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A Young Man With Disseminated Intra-abdominal Masses

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A man in his 20s presented with a 2-month history of vague, right upper-quadrant abdominal pain, with associated 5-kg weight loss, loss of appetite, and increasing abdominal distension. He reported a small mass in the right scrotum that was evaluated 5 years previously and was reassured to be a nonmalignant lesion. Physical examination was notable for a distended abdomen with a palpable left abdominal mass. Testicular examination revealed an approximately 1-cm firm right spermatic cord nodule. Laboratory tests showed lactate dehydrogenase levels of 818 U/L (to convert to μkat/L, multiply by 0.0167), with no significant β-human chorionic gonadotropin and α-fetoprotein levels. Computed tomography (CT) of the abdomen (Figure, A and B) revealed innumerable masses throughout the abdomen and pelvis, with the largest measuring 17.5 × 14 × 14 cm and a 3.9-cm enhancing lesion in the left hepatic lobe, and a small amount of ascites. Testicular sonogram disclosed a 1.5-cm right epididymal cyst. Percutaneous biopsy and histologic examination of the dominant left abdominal mass revealed neoplastic cells (Figure, C) that were positive for cytokeratin, desmin but negative for S100. Fluorescence in situ hybridization (FISH) was positive for EWS-WT1 rearrangement.

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D. Advanced desmoplastic small round cell tumor

Histopathologic analysis revealed islands and nests of uniform small round cells with round hyperchromatic nuclei and minimal cytoplasm embedded in a prominent fibroblastic stroma characteristic of desmoplastic small round cell tumor (DSRCT). Immunoprofile showed varying degrees of epithelial, muscle, and neural marker expressions. Results of FISH yielded pathognomonic EWSR1-WT1 fusion oncogene that results from t(11;22)(p13;q12) translocation.1

Desmoplastic small round cell tumor is a rare and highly fatal soft tissue sarcoma of mesenchymal origin that was first described by Gerald and Rosai in 1989.2 Etiology of DSRCT remains uncertain. The name DSRCT derives from its characteristic histologic findings of clusters of small round blue cells surrounded by abundant desmoplastic stroma. It is a disease of pediatric and young adult patients with peak incidence from 20 to 24 years and is more common in men.3 Patients usually present with nonspecific abdominal symptoms, such as distension, pain, discomfort, and constipation. Most patients have advanced disease at presentation evidenced by imaging findings of large abdominal masses and peritoneal implants with ascites.4

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Article Information

Corresponding Author: Aung Myint Tun, MD, Department of Medicine, Division of Hematology and Oncology, The Brooklyn Hospital Center, 240 Willoughby St, Ste 5D, Brooklyn, NY 11201 (atun345@gmail.com).

Published Online: November 9, 2017. doi:10.1001/jamaoncol.2017.3432

Conflict of Interest Disclosures: None reported.

References
1.
Thway  K, Noujaim  J, Zaidi  S,  et al.  Desmoplastic small round cell tumor.  Int J Surg Pathol. 2016;24(8):672-684.PubMedGoogle ScholarCrossref
2.
Gerald  WL, Rosai  J.  Case 2. Desmoplastic small cell tumor with divergent differentiation.  Pediatr Pathol. 1989;9(2):177-183.PubMedGoogle ScholarCrossref
3.
Lettieri  CK, Garcia-Filion  P, Hingorani  P.  Incidence and outcomes of desmoplastic small round cell tumor.  J Cancer Epidemiol. 2014;2014:680126.PubMedGoogle ScholarCrossref
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Hayes-Jordan  A, LaQuaglia  MP, Modak  S.  Management of desmoplastic small round cell tumor.  Semin Pediatr Surg. 2016;25(5):299-304.PubMedGoogle ScholarCrossref
5.
Zhang  WD, Li  CX, Liu  QY, Hu  YY, Cao  Y, Huang  JH.  CT, MRI, and FDG-PET/CT imaging findings of abdominopelvic desmoplastic small round cell tumors.  Eur J Radiol. 2011;80(2):269-273.PubMedGoogle ScholarCrossref
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Angarita  FA, Hassan  S, Cannell  AJ,  et al.  Clinical features and outcomes of 20 patients with abdominopelvic desmoplastic small round cell tumor.  Eur J Surg Oncol. 2017;43(2):423-431.PubMedGoogle ScholarCrossref
7.
Kushner  BH, LaQuaglia  MP, Wollner  N,  et al.  Desmoplastic small round-cell tumor.  J Clin Oncol. 1996;14(5):1526-1531.PubMedGoogle ScholarCrossref
8.
Magnan  HD, Price  A, Chou  AJ,  et al.  A pilot trial of irinotecan, temozolomide and bevacizumab (ITB) for treatment of newly diagnosed patients with desmoplastic small round cell tumor (DSRCT).  J Clin Oncol. 2017;35(Suppl, 15):11050-11050.Google Scholar
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Forlenza  CJ, Kushner  BH, Kernan  N,  et al.  Myeloablative chemotherapy with autologous stem cell transplant for desmoplastic small round cell tumor.  Sarcoma. 2015;2015(2015):269197.PubMedGoogle Scholar
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Mellado-Lagarde  M, Federico  SM, Tinkle  C, Shelat  A, Stewart  E.  PARP Inhibitor combination therapy in desmoplastic small round cell tumors.  J Clin Oncol. 2017;35(Supple, 15):e23212.Google Scholar
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