2012 Abstract Participants: Page 2
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15. A 40 year old with androgen insensitivity syndrome: A clinico-pathologic correlation
Atin Agarwal, MD
Baylor College of Medicine
Introduction: Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation which is directed by testicular determining factor: the SRY gene (sex determining region on Y chromosome) located on the short arm of chromosome Y. The androgen insensitivity syndrome (AIS) is the partial or complete inability of the cell to respond to androgens. This may impair or prevent the masculinization of the male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty. However, female genital or sexual development is usually not impaired.
Materials and Methods: CLINICAL HISTORY: This report describes the case of a 40 year old female who presented with primary amenorrhea, varicose vein and degenerative joint disease of the thoracic spine. Her pelvic ultrasound revealed absence of pelvic organs. Patient had seen multiple doctors but was never worked up for her genetic testing.
Results: HISTOPATHOLOGY AND CYTOGENETICS: Her bilateral gonads were removed laproscopically and revealed seminiferous tubules, leydig cells and mature ovarian stroma. No evidence of gonadoblastoma was identified. Her cytogenetic study revealed that she had 46 XY chromosomes. Her histological features and cytogenetic studies were consistent with complete androgen insensitivity syndrome.
Conclusion: Sex determination and differentiation depends on a cascade of events that begins with the establishment of chromosomal sex at fertilization and ends with sexual maturation at puberty, subsequently leading to fertility. AIS are divided into 3 categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS), mild androgen insensitivity syndrome (MAIS) and partial androgen insensitivity syndrome (PAIS). The case reported here is consistent with CAIS. It is important clinically not to misdiagnose these cases in newborns, teenagers and adult since the patient would be raised both socially and educationally as a female. The patients should always undergo endocrine and genetic testing to reach to a conclusive diagnosis. The diagnosis should also be confirmed on the excised specimen and the specimen should be submitted entirely for microscopic examination to rule out the evidence of gonadoblastoma.
16. An Unusual Sclerosing Smooth Muscle Tumor of the Renal Capsule: A Case Report
David Berger, MD
Baylor College of Medicine
Introduction: Leiomyomas are benign smooth muscle tumors that occur most commonly in the uterus and GI tract. They are rarely seen in the renal capsule fewer than 20 cases have been reported to date where they are difficult to distinguish from leiomyomatous perivascular epithelioid cell tumors (PEComas). We report the case of a 49-year-old female with a smooth muscle tumor of the renal capsule that displays features of both leiomyoma and sclerosing PEComa.
Materials and Methods: A 49-year-old Hispanic female with poorly controlled hypertension, recurrent urinary tract infection, and a history of total laparoscopic hysterectomy for uterine leiomyomas presented with lower abdominal pain. She denied hematuria. Abdominal CT scan showed a 1.4cm exophytic right mid-renal mass; repeat scan eight months later showed the mass had grown to 1.7cm. The patient underwent right partial nephrectomy.
Results: Gross examination revealed a 1.9 x 1.7 x 1.0cm firm, irregular renal capsular mass displaying a tan-white to brown, scabrous cut surface with no areas of hemorrhage or necrosis. H&E stained sections showed a circumscribed tumor nodule composed of plump, spindled cells with ovoid to cigar-shaped nuclei and inconspicuous nucleoli. Peripherally, the spindled cells had eosinophilic cytoplasm and were arranged in intertwining fascicles. Centrally, the cells were permeated by a network of densely sclerotic trabeculae. No significant mitotic activity, atypia, or pleomorphism was seen. Immunohistochemical phenotype was strongly positive for desmin and ?-SMA and negative for low molecular weight keratin and pancytokeratin. Staining with HMB-45 revealed a few positive cells in an irregular distribution, mostly toward the center of the nodule.
Conclusion: Renal capsular leiomyomas and PEComas (especially leiomyomatous angiomyolipomas) share common features and can be difficult to differentiate. Both are rare, benign tumors with spindle cell morphology that stain for ?-SMA. HMB45 positivity typical of PEComa has been reported in leiomyomas. The latter are more likely to stain strongly positive for desmin, suggesting that our case represents a true leiomyoma. However, the sclerotic trabeculae observed have not, to our knowledge, been previously described in renal capsular leiomyoma. This raises the possibility of sclerosing PEComa, a recently described variant. Mutational analysis of TSC2 gene may be helpful in making this distinction.
17. Collision Tumor of the Lumbosacrum: A Case Report
Elvia Martinez Blanco, MD
Baylor College of Medicine
Introduction: Prostate cancer is the most common cancer among men and the second leading cause of death. Advanced treatments, combined with the indolent nature of prostate cancer, results in extended survival of patients with high grade or metastatic disease. These factors may allow a second primary neoplasm to develop which can give rise to a collision tumor. We present a case of metastatic prostate adenocarcinoma and likely colorectal adenocarcinoma to the sacrum and surrounding soft tissue.
Materials and Methods: The patient is an 83 year old male who initially presented with difficulty urinating and a PSA of 140. Prostate biopsy revealed gleason 7 (4+3) prostate cancer. He received treatment and underwent resection of a posterior lumbosacral tumor eight months later.
Results: Grossly, the mass consisted of irregular soft tissue with admixed bone. Two histomorphologically distinct adenocarcinomas were identified. The tumor present entirely in bone was pancytokeratin+, PSA+, CK7-, and CK20-, confirming metastatic prostatic adenocarcinoma.The second tumor occupied predominantly the soft tissue with a focus in bone and was pancytokeratin+, CK20+, partial CDX2+, CK7- and PSA-, most compatible with a second primary of colorectal origin. On repeat imaging, a 6x5.3 cm large soft tissue mass posterior to the bladder and anterior to the rectum with thickening and stranding in the region of the rectosigmoid was identified.
Conclusion: The histologic and immunohistochemical features of this collision tumor confirm metastatic prostatic adenocarcinoma and likely colorectal adenocarcinoma. Only two reports of collision tumors with these particular carcinomas have been reported that had metastasized to lymph nodes. Careful examination by the pathologist and clinical awareness by treating physicians is necessary to ensure proper diagnosis and tailored treatment of collision tumors for improved patient survival.
18. Anastamosing Hemangioma of the Genitourinary Tract
Jesse Qiao, MD
UT - San Antonio HSC
Introduction: The rarity of vascular lesions in the genitourinary tract poses a problem in their proper classification and in the prediction of their clinical behavior. We describe a lesion recently designated as anastamosing hemangioma (AH) with apparent predilection for the urinary tract.
Materials and Methods: A 68 year old male underwent resection for colon adenocarcinoma. During metastatic work up, a left renal hilar mass was discovered. After recovery from the colon resection, he underwent a left radical nephretomy. A routine pathologic evaluation was carried out.
Results: The fairly circumscribed mass measured 3.0 x 2.5 x 1.5 cm and located towards the posterior renal hilum. The mass was adherent to the kidney and impinged on the renal pelvis and calyces but did not grossly involved the renal sinus structures. The ureter, renal artery and renal vein were grossly free of tumor. Microscopic sections showed small anastomosing small vascular channels with sparse spindle cells in the background. The endothelial lining was flat or with hobnailing. Some areas of the mass were hyalinized and hypocellular. Few medium-sized vessels and small focus of mature-appearing adipose tissue were present. There was minimal cytologic atypia. Mitoses and necrosis were not seen. The lesion was partly intravascular. CD31 and CD34 highlighted the endothelial cells and SMA was expressed by spindle cells in the stroma (desmin to a lesser degree). There was low proliferation by Ki-67 (<5%). HMB-45, Melan-A, D2-40, S-100, CK7, and pancytokeratin were negative. CD117 was focally expressed while CD68 highlighted intravascular macrophages. An incidental finding in the renal cortex away from the tumor was a small triphasic angiomyolipoma (0.3 cm), which was positive for Melan-A.
Conclusion: Due to the similarity in architecture, histomorphology and immunohistochemical profile, AH may be mistaken for malignant vascular tumors including angiosarcoma and Kaposi sarcoma. Familiarity with the pathologic features of AH helps avoid a misdiagnosis.
19. Case of Thyroid - Type Carcinoma of Struma Ovarii
Brad Barrows, DO
Baylor College of Medicine
Introduction: Malignant struma ovarii is a rare ovarian tumor with annual incidence less than 1 in 10,000,000 woman years. Struma ovarii are mature teratomas composed predominantly of, or at least >50%, thyroid tissue. Most malignancies arising in struma ovarii have the histological features of papillary thyroid carcinoma; nuclear features are the only criteria used to establish the diagnosis. We present a case of thyroid-type carcinoma originating in struma ovarii displaying features of low grade papillary thyroid carcinoma, follicular variant, in a 41-year-old female.
Materials and Methods: A 41-year-old female with a two year history of an abdominal mass presented with abdominal pain and fever. CT scan showed a 25 cm mass arising from the left ovary. Her CA-125 and CA 19.9 were elevated at 61.2 and 1213.36, respectively. The decision was made to surgically remove the mass; it was submitted for intraoperative consultation.
Results: A 28 x 25 x 16 cm, 6.34 kg, cystic ovary with a 12 x 0.7 x 0.7 cm attached fallopian tube were received. Sectioning revealed multiple multiloculated cysts filled with semiviscous brown fluid along with an intracysytic 2.5 x 2 x 1.5 cm tan-pink soft nodule. No normal ovary was grossly identified. Microscopic examination revealed thyroid tissue. Extensive sampling of the specimen was performed. Permanent sections showed a well-differentiated papillary thyroid carcinoma with follicular architecture comprising greater than 95% of the solid portion of the tumor, along with mature lamellar bone (5%). The cyst wall showed extensive squamous metaplasia with rare ciliated columnar cells. No other tissues were seen. The diagnosis of thyroid-type carcinoma of struma ovarii was made.
Conclusion: Thyroid-type carcinoma of struma ovarii is a rare ovarian tumor requiring recognition by the pathologist due to significant implications concerning patient management. Up to 34% of cases showing thyroid carcinoma arising in the ovary have been initially misdiagnosed as benign struma ovarii, stressing the importance of increased awareness for this entity. Unlike the current case, thyroid-type carcinoma of struma ovarii is often diagnosed after progression to Stage IIIC (metastasis beyond pelvis, >2 cm in greatest dimension), further emphasizing the need for rapid, accurate diagnosis to expedite treatment and improve patient prognosis.
20. Unique combination of complete hydatidiform mole and multiple uterine leiomyomas case report
Kimberly Klein, MD
Baylor College of Medicine
Introduction: Combination of multiple uterine leiomyomas, leading to the increase in size to 22-week equivalent, with a complete hydatidiform mole at estimated 8-10 week gestation, is an extremely rare presentation. Very few English language publications previously mentioned combination of the hydatidiform mole with small fibroid, but none of them provided gross or microscopic pathologic evaluation.
Materials and Methods: We are reporting the case of a patient with uterine enlargement for known leiomyomas, who presented with vaginal bleeding. Ultrasound revealed multiple leiomyomas of variable size, in combination with molar pregnancy. hCG was elevated to over 200,000 mIU/ml. Hysterectomy was performed, with immediate postoperative drop in the hCG levels. Hysterectomy specimen has been examined in pathology.
Results: 899.9 gram hysterectomy specimen revealed fibroids ranging from 10 cm to 1.0 cm in greatest dimension. Molar tissue measured 9 cm in greatest dimension. Histologically, leiomyomas had a typical appearance; complete mole demonstrated characteristic morphologic features. No malignancy was identified.
Conclusion: Rarity of this combination is emphasized by the fact that approximately 40% of women with multiple myomas have a history of infertility during their reproductive years and the occurrence of hydatidiform mole is only 1/1000 to 1/2000 pregnancies in the U.S. This report raises the awareness of the coexistence of such gynecological conditions.
21. Microscopic Sertoli Cell Nodule in Fallopian Tube: A Rare Case Report and Literature Review
Liping Song, MD,PhD
UT - Houston Medical School
Introduction: The incidence of Sertoli cell tumors is less than 1% of testicular tumors and ~ 0.1 - 0.2% of ovarian tumors. Sertoli cell nodules (SCN) are usually small, incidental microscopic lesions composed of aggregates of tubules lined by immature Sertoli cells. SCNs may be found more often in undescended but also in normally descended testes. So far no SCN cases were reported in female reproductive system. Presence of SCN doesn t necessarily imply clinical consequences and should be differentiated from Sertoli cell tumors and other forms of Sertoli cells proliferations.
Materials and Methods: We present a case of a small SCN in one fallopian tube of a 49-year-old phenotypically normal female with history of left ovarian cyst rupture at the outside institution, who presented with right ovarian cyst.
Results: CT scan shows right adnexal complex cyst with an unremarkable fallopian tube. Right salpingo-oophorectomy specimen revealed a serous cystadenomas with no gross lesions of the fallopian tube. On microscopy, a 0.2 cm non encapsulated nodule of bland-looking polygonal cells arranged in tubular pattern surrounded by thickened continuous basement membrane and focal nodule hyalinization was found within the wall of the right fallopian tube. The fetal type Sertoli cells had round to oval nuclei, evenly distributed fine chromatin, some conspicuous nucleoli and clear to pale eosinophilic cytoplasm. Mitotic figures and apoptotic bodies were not seen. The Sertoli cell showed strong positivity for ?-inhibin, leading to final diagnosis of fallopian tube SCN.
Conclusion: Based on the literature review, our case is the first to describe SCN in the fallopian tube. The histogenesis and migration of this peculiar lesion is still enigmatic. Although rare, SCN may be encountered in fallopian tube and cause confusion with more ominous process. There is a reported possible association between inhibin secretion and development of ovarian serous cystadenomas. Pathologists should be aware of this possibility in differential diagnosis of benign lesions in female genital tract.
22. Endometrial carcinoma metastatic to squamous cell carcinoma of vulva: the first reported case
Jana Wimmer, MD
Methodist Hospital Program
Introduction: Endometrial carcinoma metastasizing to the vulva is a rare occurrence with only 15 reported cases in the literature. Additionally, a carcinoma metastasizing to a second primary tumor is also a rare event. To the best of our knowledge, an endometrial carcinoma as a donor tumor metastasizing to another primary tumor has never been described. Here we report the first case of a tumor-to-tumor metastasis with the endometrial carcinoma as the donor tumor and a squamous cell carcinoma of the vulva as the recipient.
Materials and Methods: A 79 year-old woman with a history of endometriod adenocarcinoma presented a vulvar lesion. A biopsy of the lesion revealed a tumor consistent with metastatic endometriod adenocarcinoma, and the patient underwent subsequent surgical excision of the vulva lesion.
Results: The pathological examination confirmed the presence of metastatic endometriod adenocarcinoma, however it was found within an invasive, well-differentiated squamous cell carcinoma of the vulva. Surrounding the squamous cell carcinoma was a background of squamous cell carcinoma in situ. Immunohistochemical staining showed nuclear positivity for p63 only in the squamous cell carcinoma, while the metastatic endometriod adenocarcinoma showed nuclear positivity for estrogen (ER) and progesterone receptors (PR); squamous cell carcinoma was negative for ER and PR. These findings confirmed the presence of two separate tumors involved in a tumor-to-tumor metastasis.
Conclusion: The phenomenon of tumor-to-tumor metastasis is a rare one, with fewer than 200 cases reported in the English literature. Among those previously described, renal cell carcinoma is the most common recipient tumor. This is the first report of a tumor-to-tumor metastasis involving endometrial adenocarcinoma as a donor and vulvar squamous cell carcinoma as a recipient tumor. This unique case highlights the importance of awareness of the phenomenon, and expands the current spectrum of tumor-to-tumor metastases. When two separate tumors are present in the same patient, a possibility of tumor-to-tumor metastasis should be considered.
23. Dysplastic Follicular Dendritic Cells in Hyaline-Vascular Castleman Disease
Neil Fuehrer, MD
UT - San Antonio HSC
Introduction: Hyaline-Vascular Castleman Disease (HVCD) typically presents as localized mediastinal or cervical lymphadenopathy in young HIV negative adults. Atypical, so-called dysplastic , follicular dendritic cells (FDCs) can be seen in HVCD and may be precursors to FDC sarcoma, given the well-documented association between HVCD and FDC sarcoma.
Materials and Methods: N/A
Results: A 37 year-old HIV negative female without significant medical history presented with a right parapharyngeal mass found during a work-up of facial numbness and tingling. The well-defined, lobulated and solid mass measured up to 7.6 cm in greatest diameter with compression of the airway and displacement of the carotid artery. Isolated right cervical lymphadenopathy was also present with a 1 cm level IIA lymph node. The right parapharyngeal mass was resected after transcatheter embolization. The surgical specimen demonstrated a markedly expanded lymph node with a thickened capsule. Numerous follicles with atretic germinal centers were present with expanded mantle zones composed of concentric rings of mantle zone lymphocytes imparting an onion skin appearance including two atretic germinal centers within a single mantle zone. Many follicles were penetrated by a prominent sclerotic blood vessel characteristic of a lollipop lesion . The interfollicular areas had prominent vascularity with many sclerotic blood vessels along with small lymphocytes, histiocytes and scattered polytypic plasma cells. Scattered FDCs (CD21+, clusterin+, EMA+, S-100-, CD1a-, CD23-, CD30-, HHV8-, and Epstein-Barr Virus in-situ hybridization-) with dysplastic features characterized by large atypical mono- and binucleate forms with irregular nuclear contours and some with smudged chromatin were appreciated. Areas of necrosis and large vessels with recanalized thrombi were contributed to the embolization.
Conclusion: Dysplastic FDCs can be seen in HVCD either as isolated atypical FDC cells, as in this case, or as proliferations of FDCs forming nodules or masses. Because immunohistochemical studies for typical FDC markers can be variable, pathologists should be aware of these dysplastic FDC proliferations found in HVCD, both to recognize their association with FDC sarcoma and to aid in differentiating them from Hodgkin Lymphoma.
24. Nodular Lymphocyte Predominant Hodgkin Lymphoma with Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Kenneth Holder, MD
UT - San Antonio HSC
Introduction: Transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) into a more aggressive neoplasm is well-known and most commonly involves transformation into a large B-cell lymphoma (Richter s transformation) or more rarely into classical Hodgkin lymphoma (CHL). To our knowledge only two well-documented cases of CLL/SLL associated with nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) have been described.
Materials and Methods: N/A
Results: A 55 year old woman with chronic leukocytosis [WBC count of 29.9 K/uL with 30% lymphocytes (8.8 K/uL)], had CT imaging demonstrating multiple enlarged right supraclavicular lymph nodes. An excisional biopsy of a 3.3 x 3.0 x 1.2 cm lymph node revealed morphology typical of CLL/SLL including diffuse effacement of nodal architecture by a vaguely nodular proliferation of small, round lymphocytes with clumped chromatin and multiple, small foci of paraimmunoblasts and prolymphocytes consistent with proliferation centers. There was a distinct large nodular area which contained small, round lymphocytes and scattered large dysplastic cells with large, folded nuclei with one or more basophilic nucleoli that were morphologically consistent with lymphocyte-predominant (LP) Hodgkin cells. Flow cytometric analysis revealed monoclonal kappa light chain restricted B-cells typical of CLL/SLL (CD19+, weak CD20+, CD22+, CD5+, CD11c+, and CD23+, FMC-7- and CD10-). Paraffin immunohistochemical studies showed that the large nodular area with LP Hodgkin cells contained expanded CD21 positive follicular dendritic meshwork. The large LP Hodgkin cells expressed CD45RB, CD20, BCL-6, EMA, OCT-2, BOB.1, and weak/partial CD30 and lacked CD15 and EBV-encoded RNA (EBER) expression. The LP Hodgkin cells were scattered within the large nodular area, and were surrounded by rosettes of CD3, CD4, and CD57 positive small T-cells.
Conclusion: We present a rare case of coexisting CLL/SLL and NLPHL within the same lymph node. Because this association is exceedingly rare, the clinical significance of NLPHL associated with CLL/SLL is unclear.
25. Classical Hodgkin Lymphoma Diagnosed by Bone Marrow Biopsy
Michael Long, DO
Texas A&M - Scott and White
Introduction: Classical Hodgkin Lymphoma is a well recognized and prevalent entity. After a diagnosis is made, typically following a lymph node excision or biopsy, a bone marrow biopsy is often performed to clinically stage the patient. In the vast majority of cases bone marrow evaluation reveals negative findings. Previous studies have shown the incidence of bone marrow involvement in Classical Hodgkin Lymphoma cases is approximately 10% in the adult population. Here, we present an unusual case of Classical Hodgkin Lymphoma where the initial diagnosis was rendered upon evaluation of the bone marrow biopsy specimen.
Materials and Methods: The patient is a 30 year old female who presented to the emergency department with complaints of dizziness and diarrhea. She also reported progressive exhaustion over the prior three months and associated heavy menstruation. Vital signs showed a fever of 39.4 and tachycardia. Initial physical examination revealed no palpable lymphadenopathy. A diagnosis of gastroenteritis was suspected and laboratory workup was initiated. Laboratory findings revealed pancytopenia, highlighted by a white blood cell count of 4.1x109/L, hemoglobin of 8.9 grams/dL, and a platelet count of 118x109/L. These results were unexpected and prompted further investigation, which included a bone marrow biopsy.
Results: Evaluation of the bone marrow core biopsy was performed. The specimen showed disrupted architecture, characterized by multifocal infiltration of mixed inflammatory cells with scattered large atypical Hodgkin cells and mummified cells. CD30 and CD15 immunohistochemical stains were positive in these larger cells. A subsequent lymph node excision confirmed the diagnosis of Classical Hodgkin Lymphoma.
Conclusion: This case highlights the importance of including common neoplastic entities in a differential diagnosis, even if the presentation does not appear classic. The demographics in this case are supportive of Hodgkin Lymphoma, and the lack of palpable lymphadenopathy with presence of pancytopenia should not dissuade one from pursuit of this diagnosis. Furthermore, this case highlights the behavioral differences of disease between pediatric and adult patients. Classical Hodgkin Lymphoma rarely involves the bone marrow in children, but the finding is much more common in the adult population, and thus should be a considered diagnosis when pancytopenia is detected in such demographics.
26. Agranular Large Granular Lymphocytic Leukemia: a Potential Mimicker of Chronic Lymphocytic Leukemia
Erwin Shaw, DO
Texas A&M - Scott and White
Introduction: T-cell Large Granular Lymphocytic Leukemia (T-cell LGL) is an uncommon mature T-cell leukemia characterized by a clonal expansion of lymphocytes with increased amounts of cytoplasm and azurophilic granules in the cytoplasm. When numerous, these large cells are readily identifiable. By flow cytometry, the classic immunophenotype for these large cells is CD3+, CD8+, CD16+, variable CD56+, variable CD57+, and TCR alpha/beta. This lymphoproliferative disorder usually demonstrates monoclonal TCR gene rearrangement. Clinically, patients often present with cytopenias and autoimmune disorders, usually with no lymphadenopathy.
Materials and Methods: The index case is of a 72 year old man presenting to his primary care doctor for a routine checkup. His past medical history included diabetes and hypertension. His review of symptoms revealed no fever, joint pain or swelling. His physical exam was negative for skin lesions, lymphadenopathy and organomegaly. His lab workup showed a lymphocytosis of 13.5 x 109/L, anemia of 11.2 g and neutropenia of 0.95 x 109 /L. The peripheral smear was reviewed and reported as absolute lymphocytosis suggesting chronic lymphocytic leukemia.
Results: A preliminary diagnosis of chronic lymphocytic leukemia was made based on initial clinical findings and morphologic review. Of note, most of the lymphoid cells had moderate amounts of slightly basophilic cytoplasm and rare to absent granules resembling CLL cells. On flow cytometric analysis, the abnormal lymphoid population was consistent with the diagnosis of T-cell LGL (CD3, CD5, CD7, CD8 positive while being CD16 and CD56 negative). Clonality was confirmed by PCR for T-cell rearrangement and was reported as TCR gamma gene positive.
Conclusion: In retrospect, it is interesting to note that the initial review of the peripheral blood smear was reported with a preliminary diagnosis of CLL. Furthermore, the clinical impression also favored a diagnosis of CLL. However, on flow cytometric analysis, the cells were immunophenotypically consistent with T-cell LGL. The discrepancy between the initial impression and the flow cytometry stresses the important role of flow cytometry in evaluating peripheral blood lymphocytosis. The lack of classic granules typically seen in T-cell LGL could potentially mislead the observer into making a diagnosis of CLL. The differential diagnosis should include T-cell LGL.
27. Acute chest syndrome with in situ pulmonary thrombosis in a patient with HbSC disease and concomitant finding of Parvovirus B19
Deepika Sirohi, MD
UT - San Antonio HSC
Introduction: HbSC disease is a compound heterozygous condition equivalent to a mixture of sickle trait and HbC trait, neither of which has significant pathology. However, in HbSC disease, HbC enhances the pathogenic properties of HbS, resulting in a clinically significant disorder; though milder than sickle cell disease. Although Parvovirus B19 is commonly implicated in aplastic crisis, its association with acute chest syndrome is rare. Likewise, the occurrence of in situ pulmonary thrombosis in HbSC, which was also present in our patient, is also extremely rare.
Materials and Methods: We present a case report of a 59 year old African American with a HbSC disease who presented with acute chest syndrome.
Results: Autopsy revealed in-situ pulmonary thrombosis with evidence of recent and remote thromboemboli in multiple organs and parvovirus infection of the bone marrow in the presence of a normocellular marrow with trilineage hematopoiesis. Parvovirus viremia was demonstrated by PCR analysis. Antemortem hemoglobin electrophoresis demonstrated Hemoglobin SC disease and an elevated d-Dimer. A hypercoagulable state seen in patients with sickle cell disease aggravated by receptor mediated endothelial injury caused by Parvovirus B 19 infection could well explain the on going in situ pulmonary thrombosis precipitating an acute chest syndrome in absence of a systemic source of thrombus.
Conclusion: This case demonstrates the rare occurrence of pulmonary thrombosis in the setting of Parvovirus B19 infection in a patient with HbSC disease in the absence of a systemic source of emboli. Case reports of Parvovirus B19 in association with fat embolism, autoimmune disorders and transient antiphospholipid antibodies have been described. However, very little is known about the role of Parvovirus B19 in hypercoagulability state in sickle cell disease. The role of Parvovirus B19 virus with an increased thrombotic risk seems highly probable. It also emphasizes the importance of autopsy as an important component in quality assurance.
28. Anaplastic Variant Large B-cell Lymphoma: a Mimicker of Hodgkin's Lymphoma
Pingchuan Zhang, MD
Texas A&M - Scott and White
Introduction: Anaplastic variant of large B-cell Lymphoma is characterized by anaplastic B-cell morphology and CD30 expression without the translocation t(2;5). The authors report such a case that mimics Hodgkin s lymphoma.
Materials and Methods: We received a consulting case of a 43 year old male who underwent left inguinal lymph node biopsy for lymphadenopthy at outside hospital.
Results: Microscopically, The lymph node contained multiple necrotic areas and was divided by a few fibrotic bands. Marked increase in reticular fibers was detected by reticulin stain. The neoplastic cells are markedly abnormal. Many of them resembled Sternberg-Reed cells, others were markedly atypical blasts. CD3+ T-lymphocytes were numerous, diffusely spread and CD20+ B-lymphocytes were also numerous and formed multiple aggregates. Many eosinophils and, multifocally, many plasma cells were present. All neoplastic cells weere strongly positive for Pax5+ and majority of them were CD79a+, but negative for CD45, CD15, CD19, CD20, CD22, CD30 and BCL6.
Conclusion: Anaplastic variant of large B-cell lymphoma can mimic Hodgkin's lymphoma. It may be, like in our case, necrotic, and often contains many eosinophils and T-lymphocytes. CD30 and BCL-6 are frequently expressed in these lymphomas, but were absent in this case.
29. Invasive Malassezia Restricta Infection in an Immunocompromised Adult: A Case Report
Rabia Shafi, MD
Baylor College of Medicine
Introduction: Members of the genus Malassezia are opportunistic yeasts that form part of the normal human cutaneous flora and are implicated in several cutaneous diseases. Malassezia species are rarely associated with systemic invasive infection in immunocompromised patients. However, documented cases are exceptional and are typically seen in the neonatal population.
Materials and Methods: We report an autopsy of a 58 year-old Hispanic female with invasive infection by Malassezia restricta.
Results: The decedent had a past medical history of Anaplastic Large Cell Lymphoma, status post CHOP chemotherapy, and presented with altered mental status, neutropenic fever and weakness. Previous CSF cultures revealed the presence of CD4 positive (neoplastic T) cells, suspicious for CSF involvement by lymphoma. Upon admission, MRI scan revealed the presence of multiple foci in the supra-tentorial white matter, brainstem, posterior fossa and leptomeninges, which were suspicious for infection or neoplasm. The patient was started on CHOP chemotherapy, broad-spectrum antibiotics, and Micafungin. Despite these efforts, the patient developed multiple organ failure and expired. Subsequent autopsy did not reveal residual lymphoma. Grossly, white-tan, pinpoint nodules were found on the surface of the myocardium, spleen, and kidneys. Multiple, soft, gray-green, poorly circumscribed nodules were identified in the cerebrum, mid-brain, pons and cerebellum. Histologically, sections showed multiple foci of necrosis, neutrophils, and microorganisms in the heart, kidney, lungs, spleen and brain. A GMS stain on paraffin-embedded tissue block confirmed the presence of fungal microorganisms. PCR assays performed by the molecular lab at University of Washington using sequencing of the amplified product of universal primers confirmed the organism to be Malassezia restricta in the heart and the brain.
Conclusion: Information about invasive Malassezia fungemia disease is limited. Little systematic data exists on the frequency of invasive Malassezia infections and no data exists on risk factors of invasive Malassezia infections in immunocompromised patients beyond the neonatal age. This case provides an example of M. restricta fungemia as a cause of death in an immunocompromised adult patient.
30. Peripancreatic Paraganglioma. A Rare Location Often Mistaken for Pancreatic Neuroendocrine Tumor
Alan Brown, MD
UT - San Antonio HSC
Introduction: Paragangliomas typically arise in the adrenal gland (where these are designated as pheochromocytoma), head and neck, retroperitoneum and other sites. Retroperitoneal paraganglioma may be located close to the pancreas and may be mistaken for a pancreatic neuroendocrine tumor.
Materials and Methods: We report a case of peripancreatic paraganglioma in a 38 year-old diabetic female who presented with increasing fatigue and palpitations. Imaging studies showed a 6-cm retroperitoneal mass adherent but seemingly outside the pancreas and duodenum, and enlarged peripancreatic lymph nodes, a few of which exhibited features of necrosis. Fine needle aspiration (FNA) and subsequent Whipple resection were performed.
Results: FNA of the mass showed nests and singly scattered round to polygonal tumor cells positive for CD56, synaptophysin and chromogranin. These cells were negative for CD10, vimentin, alpha-1-antitrypsin, progesterone receptor, CD117 and BerEp4. Serum level of CA-19-9 was normal at 5 (0-37 U/mL). Based on the location, histomorphology and immunohistochemical profile of the tumor, the tumor was thought to represent a low grade neuroendocrine tumor of the pancreas. Additional work up disclosed elevated urine levels of normetanephrine at 33,022 (273-3548 nmol/d), norepinephrine at 1571 (0-45 ug/gCR), and dopamine at 371 (0-250 ug/gCR). These findings led to the consideration of paraganglioma. She underwent Whipple procedure which showed an 8.5-cm peripancreatic tumor adjacent but not involving the pancreas. The tumor cells were bland-appearing and were arranged in nests, tight clusters and trabeculae separated by thin fibrous septae. Repeat immunohistochemistry showed that the tumor cells were positive for neuroendocrine markers and negative for S-100. The regional lymph nodes were negative for tumor. A diagnosis of peripancreatic paraganglioma was rendered.
Conclusion: Peripancreatic paraganglioma is often misdiagnosed as pancreatic neuroendocrine neoplasm due to the proximity of the tumor to the pancreas, similar morphology and immunophenotype. Familiarity with this uncommon location of paraganglioma, including its absence of expression for cytokeratin may help prevent misdiagnosis.
31. Pure Oncocytic Carcinoid of the Lung. A Case Followed For 14 Years
Wei Zhang, MD
UT - San Antonio HSC
Introduction: Carcinoid tumors of the lung account for 1% 2% of all lung tumors. About 20% are atypical carcinoid, and the remaining 80% are typical carcinoid. Most of these tumors have a relatively indolent clinical behavior. Pure oncocytic carcinoid tumor of the lung is rare and the clinical features of these have not been well characterized. We herein present a case of pure oncocytic carcinoid of the lung with long term follow-up.
Materials and Methods: An 84-year old male was found to have a mass in the left lower lung lobe 14 years ago. A biopsy showed a carcinoid tumor. He underwent a left lower lobectomy which showed an 11 cm tumor about 8 years after the initial biopsy. Two years after lung lobectomy, imaging studies showed a 7 cm liver mass and a partial hepatectomy was performed. Eleven months after the hepatectomy, multiple live nodule and two small additional lung nodules were found consistent with metastases. Repeat embolizations of the liver nodules were performed. Routine pathologic evaluation including immunohistochemistry and ultrastructural studies were carried out.
Results: Histologically, the tumors of the lung and liver were identical, which composed of sheets, nests and anastomosing trabeculae of cells with abundant eosinophilic granular cytoplasm and round to oval nuclei with smooth nuclear outline. The nucleoli were small and inconspicuous. There were rare large cells with bizarre nuclei. Mitoses were counted at <1 per 10 high power field in the lung and liver tumors. There was no tumor necrosis in all sections examined. The tumors were strongly positive for AE1/3 and chromogranin, and negative for TTF-1 and vimentin. Ultrastructural study of both the lung and liver tumors revealed numerous mitochondria and very rare neurosecretory granules. The overall features are consistent with a pure oncocytic (typical) carcinoid tumor of the lung with metastasis to the liver and lung.
Conclusion: The slow progression of this case underscores the indolent nature of these tumors. Nevertheless, these tumors are capable of metastases and may be lethal in some cases.
32. Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease): A Very Rare Hamartoma Associated with Cowden Syndrome
Anna Moorhead Best, MD
Texas A&M - Scott and White
Introduction: We present a case of dysplastic gangliocytoma in a 44-year-old Caucasian man. At age 32, the patient presented with a two-month history of headache, bilateral lower extremity numbness, facial numbness and photophobia. An MRI showed a nonenhancing lesion in the left cerebellar hemisphere, with disorganized and swollen cerebellar folia. Eleven years later, the symptoms recurred, and MRI showed a similar 6 cm lesion in the left cerebellum. A subtotal excision was performed.
Materials and Methods: N/A
Results: Both lesions were diagnosed as dysplastic gangliocytoma (Lhermitte-Duclos disease LLD). On MRI, the lesion appeared as broadening of the cerebellar cortex, without a true mass. Histologically, the first lesion consisted of disorganized glioneuronal tissue, with enlarged dysmorphic neurons admixed with fragment of normal cerebellar cortex. The recurrence consisted of disorganized neuroglial tissue in the shape of band-like collections of abnormal synaptophysin-positive neuronal/ganglionic cells in the absence of normal cortex.
Conclusion: LLD is an exceedingly rare nonneoplastic cerebellar lesion first described in 1920. LDD is pathognomonic for Cowden syndrome (multiple hamartoma syndrome), which is due to a germline PTEN mutation. MRI shows non-enhancing, T2-hyperintense unilateral enlargement of the cerebellar folia with characteristic parallel striations ( tiger stripes ). Microscopically, there is diffuse enlargement of the cerebellar molecular and granular layers, filled with dysplastic ganglion cells of various sizes positive for synaptophysin. Cells demonstrate loss of PTEN expression. LDD is considered a hamartoma rather than a neoplasm based on the architectural disorganization, absent proliferation and lack of progression. Cowden syndrome is associated with visceral hamartomas and tumors, including subcutaneous lipomas and mucocutaneous neuromas, gastrointestinal polyps and increased risk for carcinomas of breast, thyroid and uterus. PTEN mutations are found in 80% of cases. Our patient s surgical history includes removal of a lipoma on the elbow, a rectal intramucosal neuroma, an inflammatory colon polyp and a low-grade colon adenoma. He has a sister with a reported similar brain lesion and a mother who died at age 52 from pancreatic cancer. The patient has not yet undergone genetic counseling.
33. Spinal Extraventricular neurocytoma: report of a case and review of the literature
Gabriela Quiroga-Garza, MD
Methodist Hospital Program
Introduction: Central neurocytomas rare CNS tumors usually affecting young individuals. Extraventricular tumors in a spinal location have rarely been reported. We present the case of a middle-aged patient with long-standing neurological symptoms and a large intramedullary cervical spinal cord tumor, ultimately diagnosed as extraventricular neurocytoma.
Materials and Methods: The patient is a 47-year-old man with a slowly progressive five-year history of bilateral hand clumsiness and left hand twitching. Cervical spine MRI showed a heterogeneous, mildly enhancing mass filling the cervical spinal cord and extending from C3 to mid T2 vertebral level. During frozen section examination a preliminary diagnosis of glioma, favor ependymoma was rendered. Additional tissue was received for permanent sections.
Results: Touch imprints showed a bland monotonous population of predominantly round cells in a neuropil-like background. Permanent sections showed a hypercellular tumor consisting of a dual population of cells. The predominant type had small round neurocytic appearance with peri-nuclear haloes; the second population had a large ganglion cell appearance with large nuclei and prominent nucleoli. Rare mitosis were seen, no necrosis or vascular proliferation were present. The tumor cells were positive for Neu-N and synaptophysin; neurofilament was also focally positive. There was a 3% proliferation index with MIB-1 stain. The tumor cells were negative for GFAP, EMA, and IDH-1. With the above-described findings, the diagnosis was extraventricular neurocytoma with ganglion cell maturation (WHO grade II).
Conclusion: The differential diagnosis for intramedullary spinal tumors includes gliomas, hemangioblastoma and metastasis. Extraventricular neurocytoma in the cervical spinal cord is a rare entity, but should remain in this differential diagnosis list despite their rarity. It is important to differentiate it from oligondendroglioma and ependymoma. Given their low-grade nature, gross total resection is the current treatment of choice; the role of radiotherapy is still controversial. Tumors with a MIB-1 index greater than 3% might behave in a more aggressive manner, being more prone to early local recurrence.
34. Immunohistochemical expression of PAX-8 in hemangioblastomas, a potential pitfall with metastatic renal cell carcinoma
Jennifer Ross, MD
Methodist Hospital Program
Introduction: Hemangioblastoma (HB) is a vascular tumor that arises more frequently in the posterior cranial fossa and may develop sporadically or in association with von Hippel-Lindau (VHL) syndrome. Histologically, HB contains stromal cells with abundant eosinophilic or clear to foamy cytoplasm admixed with capillaries (grade I, 2007 WHO Classification of Tumors). Differential diagnosis with metastatic clear cell renal cell carcinoma (ccRCC) has important prognostic and therapeutic implications. vHL patients have an increased risk of developing HB and ccRCC and cases with tumor-to-tumor metastasis have been reported. Immunohistochemical markers are useful to differentiate both tumors (inhibin-A for HBs and CD10, RCC Marker and PAX-2 for ccRCC). Recently, PAX-8 has been regarded as a reliable marker for ccRCC. In this study we examine its specificity as a marker for differentiating HB from ccRCC.
Materials and Methods: Thirteen cases of HB retrieved from our institution were analyzed. In all cases, immunohistochemistry for PAX-8, PAX-2, inhibin-A and RCC were performed with appropriate controls. Slides were reviewed by 4 pathologists . The staining patterns were scored based on intensity (1-3+) and extent of tumor staining [(<25% (focal) - >75% (diffuse)].
Results: Eight cases were sporadic and 5 had a history of vHL. Nine (9) cases were located in the posterior fossa and 4 in the spinal cord. PAX-8 showed positive nuclear staining in 3 cases (23%); PAX-2 was positive in 6 cases (46%); Inhibin-A was positive in 7 cases (54%). Immunohistochemistry for RCC Marker was negative in all samples. No differences were seen between sporadic or vHL-related tumors.
Conclusion: According to our results, PAX-8 immunohistochemistry may be better than PAX-2 in differentiating HB from ccRCC. However, no one marker is ideal for differentiating HB from ccRCC and specificity of staining may be better improved by a panel of stains rather than implementation of one stain for diagnosis.
Oral/Head and Neck
35. North American Blastomycosis of the oral cavity: A case report
Rouba Assi, Other
Baylor University Medical Center
Introduction: North American Blastomycosis is a relatively uncommon infection with an adult male predominance, and is caused by the dimorphic fungal organism Blastomyces dermatitidis. It is found primarily in the Mid-West and Northern United States and Canada. The disease primarily affects the lungs although infection might disseminate to other sites in the body, including the oropharyngeal mucosa, where lesions often clinically resemble squamous cell carcinoma.
Materials and Methods: Case report
Results: A 79 year old male presented with a two week history of a mildly erythematous midline palatal swelling with central ulceration and no discharge. Clinical symptoms were non specific with mild tenderness to palpation, minimal discomfort and no systemic symptoms. Histopathologic evaluation revealed granulomatous inflammation and a fungal organism with a budding pattern suggestive of Blastomyces. In addition to PAS and GMS stains, specific immunohistochemistry for Blastomyces dermatitidis was performed and confirmed the diagnosis. Further historical investigation revealed that the patient, though living in Texas, had a summer cabin in Minnesota that had recent problems with the water filtration system. An extensive workup showed no other organ involvement.
Conclusion: Although rare, primary lesions of North American Blastomycosis in the oral cavity do occur. Histopathologic examination of mucosal lesions could play a critical role in the timely diagnosis of this potentially life threatening illness.
36. Rare Intraparotid Schwannoma in a 55 Year-Old Male
Bettye Cox, MD
Baylor College of Medicine
Introduction: Primary neoplasms of the salivary glands account for approximately 3-10% of all head and neck tumors, with the parotid gland being the most frequent site of involvement. Neoplasms such as the pleomorphic adenoma and Warthin s tumor represent the majority of parotid tumors; however, schwannomas are occasionally encountered and present unique diagnostic dilemmas. Schwannomas are benign peripheral nerve sheath tumors, occurring most commonly along the intracranial portion of the facial nerve. To date, less than sixty intraparotid schwannomas have been reported in the literature worldwide, making the occurrence of a parotid gland schwannoma exceptionally rare.
Materials and Methods: A 55 year-old male with an eleven month history of a painless left-sided facial mass presented to the Ben Taub General Hospital Emergency Center. Following referral to ENT, an FNA was performed and revealed lymphocytic inflammation consistent with sialadenitis. Resection was initially unsuccessful due to inability to distinguish the lesion from the facial nerve; an incisional biopsy was performed and revealed a spindle cell neoplasm consistent with schwannoma. The patient was observed for a number of months, during which time the mass grew, and the decision was made to perform a left parotidectomy.
Results: The 4.8 x 2.2 x 1.8 cm, 8.7 g left parotid gland consisted of a well-encapsulated, rubbery tan-pink mass with a variegated tan-pink to yellow cut surface. Histology revealed bland spindled cells without atypia, mitosis or necrosis, with Antoni A and B architecture, as well as focal Verocay bodies. Immunohistochemistry revealed positivity for S-100, with a Ki-67 proliferation index of <1%. The specimen was negative for SMA, CD68, MSA, pancytokeratin, and CD45. The case was signed out as an intraparotid schwannoma.
Conclusion: Intraparotid schwannomas are an exceptionally rare entity, with less than sixty cases described worldwide. They represent diagnostic challenges for the pathologist, due to their non-specific findings on fine needle aspiration. With a benign spindle cell lesion of the parotid gland, inflammatory conditions and neoplasms should be included in the differential diagnosis.
37. A Case of Polysplenia and Left Atrial Isomerism in a Stillborn Fetus
Leslie J. Greebon, MD
UT - San Antonio HSC
Introduction: Polysplenia/ Left Atrial Isomerism is a heterogeneous disease that primarily affects the asymmetric organs, including the heart, lungs and bronchi, liver, intestines, and spleen. This syndrome accounts for approximately 0.4% of cases of congenital heart disease and occurs in 4 per 1 million live births. The exact cause is unknown. Embryologically, it results from failure of development of right-left asymmetry. Primary manifestations of this disease include cyanotic congenital heart disease, biliary atresia, intestinal malrotation, and functional asplenia.
Materials and Methods: This is a case of stillborn male delivered at 33 5/7 weeks gestation. On first prenatal visit at 27 3/7 weeks, ultrasound was performed for fetal bradycardia and hydramnios that demonstrated multiple cardiac congenital anomalies. Intrauterine fetal demise was diagnosed at 33 5/7 weeks gestation and an autopsy was performed.
Results: The fetus was appropriate size for gestational age but exhibited diffuse anasarca with serosal effusions. Internal exam revealed complex congenital heart defects included dextrocardia with cardiac complete situs inversus, cardiomegaly with marked bi-atrial and left ventricular dilatation, perimembranous ventricular septum defect and anomalous hypoplasic ductus arteriosus. Systemic venous anomalies affected included absent right superior vena cava (SVC), left SVC connected to left-sided morphologic right atrium, hemiazygous continuation to left SVC, left hepatic vein connected to left-sided morphologic right atrium, and right hepatic vein connected to coronary sinus. Other organ anomalies included left pulmonary isomerism, left sided polysplenia, hepatomegaly with major lobe on the left, midline gallbladder and partial malrotation of the intestines.
Conclusion: Polysplenia/ Left atrial isomerism is a rare entity. Death can occur in utero or up to a year after birth depending on the severity of the anomalies. Mortality is secondary to congenital heart disease, biliary atresia, intestinal malrotation, or sepsis. The anatomical findings of this fetus were consistent with Polysplenia/Left Atrial Isomerism Complex. Intrauterine fetal demise was likely caused by complex cardiac anomalies with complete heart block and bradycardia leading to heart failure and hydrops fetalis.
38. Deep Granuloma Annulare with High Mitotic Activity in a Young Child
Chad Hruska, MD
UT - Houston Medical School
Introduction: Granuloma annulare (GA) is a common idiopathic benign inflammatory dermatosis with multiple described variations. The clinical features of GA are nonscaly annulare plaques and erythematous papules, which are usually located on the hands, feet, and elbows of children and young adults. The deep GA variation is characterized by palisading granulomas deep in the dermis or subcutaneous fat. GA may demonstrate high cellularity and nuclear atypia, and some cases of clinically typical GA exhibit mitotic activity. We report a 2 y/o female who presented with two distinct masses on the anterior tibial region, which both measured approximately 1 to 2 cm in diameter.
Materials and Methods: The patient underwent elective excisional biopsy of the calcified masses. Specimens from each mass were submitted to pathology for gross and histologic evaluation and examined with H&E stain and immunohistochemical stains, including pancytokeratin, EMA, vimentin, CD34, CD68, Ki-67, INI-1, and Gli2. GMS and AFB stains to rule out fungal and Mycobacteria organisms were also performed.
Results: Sections revealed large nodules with necrotizing centers surrounded by somewhat palisading epithelioid histiocytes located in the dermis and subcutaneous fibroadipose tissue. There was increased mitotic activity with up to 3 mitoses per occasional single HPF and 9 mitoses per 10 HPF. Occasional cells demonstrated enlargement of the nuclei and irregular nuclear contour. There was bright positivity for CD68, INI-1, and vimentin in the epithelioid histiocytes surrounding the necrotic centers. Ki-67 shows numerous positive cells. GMS and AFB stains were negative. Diagnosis of granuloma annulare was made; after careful consideration epitheliod sarcoma has been ruled out.
Conclusion: The presence of mitoses in GA is rare. One study reported 3.1% of GA biopsies with increased mitotic activity. Several studies have shown that mitotic GA does not behave differently than typical GA. These studies were evaluating mitotic lesions with a mean of 3.0 mitoses per 10 HPF, while the lesion we reported has 9 mitoses per 10 HPF; in addition, the cited study was referring to the older patient population (mean age 49+/-15 years). To our knowledge, this case has the highest mitotic activity reported in GA in the youngest child.
39. Primary Pulmonary Synovial Sarcoma Presenting as a Hunge Lung Mass in a 5 Year-Old Girl: A Case Report
Sun Mi Lee, MD
UT - San Antonio HSC
Introduction: Primary synovial sarcoma in the intrathoracic cavity in pediatric population is extremely rare. We described a unique case of primary synovial sarcoma presenting as a huge lung mass in a 5 year-old girl.
Materials and Methods: A 5 year-old girl presented with worsening cough for two weeks. A chest computed tomography (CT) scan showed a huge heterogeneous mass involving the majority of the right hemithorax which measures approximately 12.3 x 11.7 x 8.9 cm. Radiographically, differential diagnoses included pleuropulmonary blastoma and other pediatric sarcomas such as rhabdomyosarcoma.
Results: The biopsy on a right lung mass was perfomed and showed uniform spindle cells with elongated nuclei, slight basophilic cytoplasm, and indistinct cell borders. Interlacing fascicles of tumor cells were densely packed, with little intervening stroma in a variable background of myxoid and densely collagenous elements. Immunohistochemistry displayed positive reactivity for vimentin, calponin, CD56, and Beta catenin. Morphologically, pleuropulmonary sarcoma and synovial sarcoma were considered. Cytogenetic analysis and fluorescence in situ hybridization showed the diagnostic X; 18 translocation with SYT-SSX gene fusion. Following the pathologic report of synovial sarcoma in the right lower lung, an extensive work up was followed, however, failed to reveal evidence for an alternative primary site. CT scans of the chest, abdomen, lower extremities and pelvis, bone scan, and magnetic resonance imaging of brain did not show any evidence of primary tumor site. The patient was treated with chemotherapy consisting of vincristine, doxorubicin, ifosfamide, and etoposide and underwent a resection of lung mass and chest wall.
Conclusion: The most common primary pulmonary malignacies in children are pleuropulmonary blastoma and carcinoid tumor. Given the rarity of primary pulmonary sarcomas in children, the clinical and pathologic diagnosis for this tumor would be challenging. Because synovial sarcomas demonstrate similar immunohistochemical and ultrastructural features to other spindle cell sarcomas. However, the detection of SYT-SSX gene fusion is an important method for establishing a definite diagnosis of this tumor. Although pleural pulmonary blastoma would be the most common primary lung tumor in infants and young children, primary synovial sarcoma also should be included as differential diagnosis.
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