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Desmoplastic Small Round Cell Tumor

DEFINITION AND PATHOGENESIS

  • Caused by the reciprocal chromosomal translocation, t(11;22)(p13;q12)
  • Gene fusion product is chimeric protein EWS-WT1
    • Functions as a novel transcription factor that activates expression of target genes
      • PDGF-A expressed
        • Potent growth factor for fibroblasts
          • Linked to the characteristic desmoplasia
    • (EWS gene on chromosome 22)
    • (WT1 gene on chromosome 11)
      • Tumor suppressor involved in the development of Wilms' tumor
        •  

IMPORTANCE


CLINICAL FEATURES


RADIOLOGIC FEATURES

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GROSS PATHOLOGY


HISTOLOGIC AND MOLECULAR FEATURES

DIFFERENTIAL CLINICOPATHOLOGIC DIAGNOSIS

DISEASE COURSE AND TREATMENT


REFERENCES

Adsay V, Cheng J, Athanasian E, Gerald W, Rosai J: Primary desmoplastic small cell tumor of soft tissues and bone of the hand. Am J Surg Pathol. 1999 Nov;23(11):1408-13. Pubmed

Al Balushi Z, Bulduc S, Mulleur C, Lallier M: Desmoplastic small round cell tumor in children: a new therapeutic approach. J Pediatr Surg. 2009 May;44(5):949-52.

Antonescu CR, Gerald WL, Magid MS, Ladanyi M: Molecular variants of the EWS-WT1 gene fusion in desmoplastic small round cell tumor. Diagn Mol Pathol. 1998 Feb;7(1):24-8. Pubmed

Athale UH, Shurtleff SA, Jenkins JJ, Poquette CA, Tan M, Downing JR, Pappo AS: Use of reverse transcriptase polymerase chain reaction for diagnosis and staging of alveolar rhabdomyosarcoma, Ewing sarcoma family of tumors, and desmoplastic small round cell tumor. J Pediatr Hematol Oncol. 2001 Feb;23(2):99-104.

Barra WF, Castro G, Hoff AO, Siqueira SA, Hoff PM: Symptomatic hypoglycemia related to inappropriately high IGF-II serum levels in a patient with desmoplastic small round cell tumor. Case Report Med. 2010;2010:684045.

Baz W, El-Soueidi R, Nakhl F, Aoun N, Chin N, Dhar M: Desmoplastic small round-cell tumor: an adult with previous exposure to agent orange. Jpn J Clin Oncol. 2010 Jun;40(6):593-5.

Biegel JA, Conard K, Brooks JJ: Translocation (11:22)(p13;q12): primary change in intra-abdominal desmoplastic small round cell tumor. Genes Chromosomes Cancer 7:119- ,1993.

Bisogno G, Ferrari A, Rosolen A, Alaggio R, Scarzello G, Garaventa A, Arcamone G, Carli M: Sequential intensified chemotherapy with stem cell rescue for children and adolescents with desmoplastic small round-cell tumor. Bone Marrow Transplant. 2010 May;45(5):907-11.

Bisogno G, Riccardi R, Scagnellato A, Arcamone G, Miglionico L, Carli M: No effect of irinotecan in patients with resistant desmoplastic small round cell tumor. Pediatr Blood Cancer. 2010 Jan;54(1):182-3.

Chao J, Budd GT, Chu P, Frankel P, Garcia D, Junqueira M, Loera S, Somlo G, Sato J, Chow WA: Phase II clinical trial of imatinib mesylate in therapy of KIT and/or PDGFRalpha-expressing Ewing sarcoma family of tumors and desmoplastic small round cell tumors. Anticancer Res. 2010 Feb;30(2):547-52.

Cohen IJ, Stark B, Avigad S: Synovial sarcoma mimicking desmoplastic small-cell tumor: critical role for molecular diagnosis. Med Pediatr Oncol. 2000 Mar;34(3):234.

Folpe AL, Hill CE, Parham DM, O'Shea PA, Weiss SW: Immunohistochemical detection of FLI-1 protein expression: a study of 132 round cell tumors with emphasis on CD99-positive mimics of Ewing's sarcoma/primitive neuroectodermal tumor. Am J Surg Pathol. 2000 Dec;24(12):1657-62.

Hayes-Jordan A, Green H, Fitzgerald N, Xiao L, Anderson P: Novel treatment for desmoplastic small round cell tumor: hyperthermic intraperitoneal perfusion. J Pediatr Surg. 2010 May;45(5):1000-6.
Hill DA, Pfeifer JD, Marley EF, Dehner LP, Humphrey PA, Zhu X, Swanson PE: WT1 staining reliably differentiates desmoplastic small round cell tumor from Ewing Sarcoma/PNET. Amer J Clin Pathol 114:345-53,2000.

Kim JW, Park JH, Cho HJ, Kwon JH, Koh Y, Kim SJ, Kim SH, Lee SH, Im SA, Kim YT, Kim WH: A case of desmoplastic small round cell tumor diagnosed in a young female patient. Cancer Res Treat. 2009 Dec;41(4):233-6.

Kupeli S, Caglar K, Birgen D, Sungur A, Varan A: Desmoplastic small round cell tumor of the mandible in a child with unusual plantar metastasis. J Pediatr Hematol Oncol. 2010 May;32(4):e155-7.

Lauridant-Philippin G, Ledem N, Lemoine F, Gouerant S, Suillemet C, Michel P, Scotte M, Di Fiore F: Optimal treatment with systemic chemotherapy, complete surgical excision and hyperhtermic intraperitoneal chemotherapy for a desmoplastic small round cell tumor in an adult male patient. Gastroenterol Clin Biol. 2010 April-May;34(4-5):321-324.

Li F, Li G, Chen Z, Bi C: Primary desmoplastic small round cell tumor of urinary bladder. J Clin Oncol. 2010 Jun 20;28(18):e291-4.

Marina NM, Pappo AS, Parham DM, Cain AM, Rao BN, Poquette CA, Pratt CB, Greenwald C, Meyer WH: Chemotherapy dose-intensification for pediatric patients with Ewing's family of tumors and desmoplastic small round-cell tumors: a feasibility study at St. Jude Children's Research Hospital. J Clin Oncol. 1999 Jan;17(1):180-90. Pubmed

Murphy A, Stallings RL, Howard J, O'Sullivan M, Hayes R, Breatnach F, McDermott MB: Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation. Cancer Genet Cytogenet. 2005 Jan 15;156(2):167-71.

Nakatsuka S, Oji Y, Horiuchi T, Kanda T, Kitagawa M, Takeuchi T, Kawano K, Kuwae Y, Yamauchi A, Okumura M, Kitamura Y, Oka Y, Kawase I, Sugiyama H, Aozasa K: Immunohistochemical detection of WT1 protein in a variety of cancer cells. Mod Pathol. 2006 Jun;19(6):804-14. Pubmed

Okera M, Moffat D, Selva-Nayagam S: Desmoplastic small round cell tumour: an ususual presentation of an unusual tumour. Med J Aust. 2010 Feb 1;192(3):172-3.

Ota S, Ushijima K, Fujiyoshi N, Fujimoto T, Hayashi R, Murakami F, Komai K, Fujiyoshi K, Hori D, Kamura T: Desmoplastic small round cell tumor in the ovary: Report of two cases and literature review. J Obstet Gynaecol Res. 2010 Apr;36(2):430-4.

Pinto Marin A, Garrido Arevalo M, Redondo Sanchez A, Espinosa Arranz E, Zamora Aunon P, Gonzalez, Baron M: Intra-abdominal desmoplastic small round cell tumour in a 39-year-old man. Clin Transl Oncol. 2009 Nov;11(11):770-2.

Roberts P, Burchill SA, Beddow RA, Wheeldon J, Cullinane C, Lewis IJ: A combined cytogenetic and molecular approach to diagnosis in a case of desmoplastic small round cell tumor with a complex translocation (11;22;21). Cancer Genet Cytogenet. 1999 Jan 1;108(1):19-25.
Rodriguez E, Sreekantaiah C, Gerald W, : A recurring translocation, t(11;22)(p13;q11.2), characterizes intra-abdominal desmoplastic small round-cell tumors. Cancer Genet Cytogenet 69:17- ,1993.

Romeo S, Dei Tos AP: Soft tissue tumors associated with EWSR1 translocation. Virchows Arch. 2010 Feb;456(2):219-34. Pubmed

Sandberg AA, Bridge JA: Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors, desmoplastic small round-cell tumors. Cancer Genet Cytogenet. 2002 Oct 1;138(1):1-10. Pubmed

Tateishi U, Hasegawa T, Kusumoto M, Oyama T, Ishikawa H, Moriyama N: Desmoplastic small round cell tumor: imaging findings associated with clinicopathologic features. J Comput Assist Tomogr. 2002 Jul-Aug;26(4):579-83.

Yin WH, Guo SP, Yang HY, Chan JK: Desmoplastic small round cell tumor of the submandibular gland--a rare but distinctive primary salivary gland neoplasm. Hum Pathol. 2010 Mar;41(3):438-42.

Yoshida A, Edgar MA, Garcia J, Meyers PA, Morris CD, Panicek DM: Primary desmoplastic small round cell tumor of the femur. Skeletal Radiol. 2008 Sep;37(9):857-62.

Zhang PJ, Goldblum JR, Pawel BR, Pasha TL, Fisher C, Barr FG: PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 in desmoplastic small round cell tumors with EWS-WT1 gene fusion product and their role in stromal desmoplasia: an immunohistochemical study. Mod Pathol. 2005 Mar;18(3):382-7.

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