DESMOPLASTIC SMALL ROUND CELL TUMOR: A RARE PATHOLOGY PUZZLE

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1 DESMOPLASTIC SMALL ROUND CELL TUMOR: A RARE PATHOLOGY PUZZLE Ryan Granger University of Rhode Island Cytotechnology program May 2, 2015 ASCT Annual Meeting Nashville, Tennessee

2 DESMOPLASTIC SMALL ROUND CELL TUMOR Extremely Rare, highly aggressive small round cell malignancy Recognized between1987&1989- thought to originate from a mesothelial progenitor Generally affects male adolescents Polyphenotypic Epithelial Mesenchymal Neuronal 3 year survival rate of 29% No set treatment

3 CHARACTERISTICS Clinically presents as palpable abdominal mass or masses Abdominal pain, distention Ascites, metastasizes to liver, kidneys, ovaries in females Cytologically highly cellular, small round cells singly, clusters high N/C ratios, round to oval, granular chromatin, molding Scant cytoplasm Histologically Small round cells in cords/nests surrounded by desmoplastic stroma Ancillary Tests Immunoprofile: CK, Vimentin, EMA, Desmin, NSE, WT-1 Translocation, EWS-WT1 gene fusion

4 CLINICAL INFORMATION 13 year old female History of kidney stones undergoing exploratory ultrasound Found to have paratubal cysts, right lower quadrant masses, and ascites Cytology of Ascites examined Surgery to remove growths

5 CYTOLOGY Round to oval Finely granular to hyperchromatic Variable nucleoli Molding High N/C ratios PAP 400x Cell Block H&E 100x PAP 400x

6 HISTOLOGY Biopsy of white pelvic mass 3.0x1.9x1.9cm attached to segment of omentum Sheet like pattern Necrosis Mitotic activity Gland formations with mucin production Extends to deep margin Retro uterine mass- similar finding 2 paratubal cysts Benign cysts

7 HISTOLOGY H&E Biopsy 400x H&E Biopsy 400x SPINDLE CELLS ROUND TO OVAL ELONGATED CELLS MOLDING FINELY GRANULAR CHROMATIN NECROSIS STROMA

8 POTENTIAL DIAGNOSES Similar Morphology Ewing s Sarcoma Wilm s Tumor Malignant Rhabdoid Tumor Rhabdomyosarcoma Desmoplastic Small Round Cell Juvenile Granulosa Cell Tumor Peritoneal Mesothelioma Ancillary Studies Needed Immunohistochemistry CK D240 EMA MOC-31 WT-1 Calretenin EWSR-1 Myogenin Desmin HMBE-1 S100 Inhibin Synaptophysin FISH

9 120 Comparison of IHC with Differential Diagnoses CK cocktail EMA Desmin Ewing's Sarcoma S-100 Wilm's Tumor Myogenin D2-40 MOC-31 NSE Inhibin HBME-1 Calretenin Synaptophysin Case DSRCT Wilm's Tumor EWS/PNET RMS MRT Peritoneal Mesothelial Juvenile Granulosa Cell Tumor

10 IMMUNOHISTOCHEMISTRY Ewing s Sarcoma Wilm s Tumor Malignant Rhabdoid Tumor Rhabdomyosarcoma Desmoplastic Small Round Cell Juvenile Granulosa Cell Tumor Peritoneal Mesothelioma Cytokeratin 100X Demsin 100x EMA 100x

11 FISH RESULTS Translocation t(11;22)(p13;q12) with EWS-WTS-1 gene fusion

12 FINAL DIAGNOSIS Desmoplastic Small Round Cell Tumor: Stage 1 Suggested Treatment: hyperthermic peritoneal infusion January th round of chemotherapy

13 FINAL THOUGHTS Desmoplastic Small Round Cell Tumor, although rare, is an important entity which needs to be recognized as a differential in pediatric and adolescent soft tissue tumors. It is a very aggressive, often fatal tumor which requires harsh treatment. We cannot, in majority of cases, diagnose it on cytology or histology alone. All resources and tests must be performed due to the polyphenotypic nature of this tumor and other small round cell tumors. Though there are certain IHC or ICC stains that may narrow down the diagnosis, there is no absolute definitive immuno profile. FISH testing is absolutely necessary in the diagnosis. DSRCT is a prime example that all disciplines of pathology testing play an important part in assisting cytotechnologists and pathologists reach a thorough 100% definitive diagnosis.

14 ACKNOWLEDGMENTS A special Thank You to Dr. Latha Pisharodi and Sue Hoffman, CT (ASCP) at Rhode Island Hospital

15 REFERENCES Dabbs, David J. Diagnostic Immunohistochemistry; Theranostic and Genomic Applications. Philadelphia, PA.: Saunders Elservier Print. Chang, Fuju MD. Desmoplastic Small Round Cell Tumors; Cytologic, Histologic and Immunohistochemical Features. Archives of Pathology and Laboratory Medicine. May 2006 Volume 130. Print. Kempson, Richard. Desmoplastic Small Cell Tumor Stanford School of Medicine. Surgical Pathology Criteria /printable.html Arnaldez, Fernanda MD. Desmoplastic Small Round Cell Tumor Liddy Shiver Sarcoma Initiative. Koniari, Katerina, et al. Intraabdominal desmoplastic small round cell tumor; Report of a case and literature review. International Journal of Surgery Case Reports. October Online.

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