Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Soft Tissues: Desmoplastic small round cell tumor


ICD-Topo C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE
ICD-Morpho 8806/3 Desmoplastic small round cell tumor
Atlas_Id 5023
Phylum Soft Tissue Tumors:Uncertain differentiation:Desmoplastic small round cell tumor
Other namest(11;22)(p13;q11) in desmoplastic small round cell tumor

Clinics and Pathology

Phenotype / cell stem origin thought to be of peritoneal blastomatous cell origin
Epidemiology rare; mostly in childhood and adolescent males (mean age: 22 yrs; sex ratio: 4.7 M/1F)
Clinics very aggressive tumor, located almost exclusively to the peritoneal surfaces of the abdomen with involvement of many abdominal organs; very rare localisations outside the abdominal cavity (thoracic, cranial or skeletal localisations)
Pathology characterized by nested pattern of small poorly differenciated tumor cell growth surrounded by dense desmoplastic stroma and immunohistochemistrical trilineage coexpression: epithelial (cytokeratin, EMA), mesenchymatous (desmin, vimentin) and neural (NSE)
Treatment surgery may be performed before intensive chemo and radiotherapy
Prognosis very poor; 35% overall progression-free survival at 5 yrs; median survival of about 17 months, although tumors are responsive to aggressive therapy in some cases


Note besides the specific t(11;22)(p13;q12), 2 variant translocations have been described
Cytogenetics Molecular frequent additionnal abnormalities, sometimes complex
Variants the variant translocations are (t(2;21;22)(p23;q22;q13) and t(11;17)(p13;q11.2)

Genes involved and Proteins

Gene Name EWSR1
Location 22q12
Dna / Rna spans over 40 kb, 17 exons ; 2,4 kb mRNA
Protein 656 amino acids; N-term gln-thr-pro-rich region; C-terminal proline rich region; wide expression; RNA binding protein

Gene Name WT1
Location 11p13
Dna / Rna spans over 50 kb, 10 exons; alternative splicings (in particular, the second site adds or remove 3 amino-acids (KTS) between the second and third zinc fingers and generates 2 isoforms); mRNA 3,5 kb
Protein 52-54 Kda; 4 Cys2-His2 zinc fingers, glutamine- proline-glycine-rich transcriptional regulation domain, interacting with p53; nuclear localisation; transcriptional repressor

Result of the chromosomal anomaly

Hybrid Gene
Description 5'EWS- 3'WT1
Transcript mRNA detectable by RT-PCR (99% of DSRCT)
Fusion Protein
Description the N-term trans activation domain of EWS (exon 7) is fused to the C-term zinc fingers domain of WT1(exon 8); molecular variants have been described (exons 9 or 10 of EWS); transcritional activator ; the 2 isoforms EWS-WT1 without KTS and EWS-WT1 with KTS having different properties
Expression Localisation nuclear
Oncogenesis early: in the embryonal mesenchyme of the coelomic cavities; due to inapopriate transcriptional activition of WT1- responsive genes; the EWS-WT1 without KTS isoform would be dominantly acting as an oncogene

Other genes implicated (Data extracted from papers in the Atlas)

Genes EWSR1 WT1

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;22)(p13;q11) EWSR1/WT1

External links

Mitelman databaset(11;22)(p13;q11) EWSR1/WT1 [Case List]    t(11;22)(p13;q11) EWSR1/WT1 [Association List] Mitelman database (CGAP - NCBI)
COSMICHisto = - Site = soft_tissue fibrous_tissue_and_uncertain_origin (COSMIC)
arrayMapTopo ( C47,C49) Morph ( 8806/3) - arrayMap (Zurich)


Cytogenetic evidence of clonality in cutaneous benign fibrous histiocytomas: a report of the CHAMP study group.
Vanni R, Fletcher CD, Sciot R, Dal Cin P, De Wever I, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Tallini G, Van Den Berghe H, Willˆ©n H
Histopathology. 2000 ; 37 (3) : 212-217.
PMID 10971696
Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals.
Gerald WL, Miller HK, Battifora H, Miettinen M, Silva EG, Rosai J
The American journal of surgical pathology. 1991 ; 15 (6) : 499-513.
PMID 1709557
A novel reciprocal chromosome translocation t(11;22)(p13;q12) in an intraabdominal desmoplastic small round-cell tumor.
Sawyer JR, Tryka AF, Lewis JM
The American journal of surgical pathology. 1992 ; 16 (4) : 411-416.
PMID 1314522
Cytogenetic abnormalities in an intraabdominal desmoplastic small cell tumor.
Shen WP, Towne B, Zadeh TM
Cancer genetics and cytogenetics. 1992 ; 64 (2) : 189-191.
PMID 1486572
Translocation (11;22)(p13;q12): primary change in intra-abdominal desmoplastic small round cell tumor.
Biegel JA, Conard K, Brooks JJ
Genes, chromosomes & cancer. 1993 ; 7 (2) : 119-121.
PMID 7687454
A recurring translocation, t(11;22)(p13;q11.2), characterizes intra-abdominal desmoplastic small round-cell tumors.
Rodriguez E, Sreekantaiah C, Gerald W, Reuter VE, Motzer RJ, Chaganti RS
Cancer genetics and cytogenetics. 1993 ; 69 (1) : 17-21.
PMID 8374894
Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor.
Ladanyi M, Gerald W
Cancer research. 1994 ; 54 (11) : 2837-2840.
PMID 8187063
Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction. A specific diagnostic assay.
de Alava E, Ladanyi M, Rosai J, Gerald WL
The American journal of pathology. 1995 ; 147 (6) : 1584-1591.
PMID 7495283
Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor.
Gerald WL, Rosai J, Ladanyi M
Proceedings of the National Academy of Sciences of the United States of America. 1995 ; 92 (4) : 1028-1032.
PMID 7862627
Detection of the EWS/WT1 gene fusion by reverse transcriptase-polymerase chain reaction in the diagnosis of intra-abdominal desmoplastic small round cell tumor.
Argatoff LH, O'Connell JX, Mathers JA, Gilks CB, Sorensen PH
The American journal of surgical pathology. 1996 ; 20 (4) : 406-412.
PMID 8604806
Fusion of the EWS1 and WT1 genes as a result of the t(11;22)(p13;q12) translocation in desmoplastic small round cell tumors.
Benjamin LE, Fredericks WJ, Barr FG, Rauscher FJ 3rd
Medical and pediatric oncology. 1996 ; 27 (5) : 434-439.
PMID 8827070
Desmoplastic small cell tumor: a report of three cases and a review of the literature.
Kretschmar CS, Colbach C, Bhan I, Crombleholme TM
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology. 1996 ; 18 (3) : 293-298.
PMID 8689345
Molecular variants of the EWS-WT1 gene fusion in desmoplastic small round cell tumor.
Antonescu CR, Gerald WL, Magid MS, Ladanyi M
Diagnostic molecular pathology : the American journal of surgical pathology, part B. 1998 ; 7 (1) : 24-28.
PMID 9646031
Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants.
Gerald WL, Ladanyi M, de Alava E, Cuatrecasas M, Kushner BH, LaQuaglia MP, Rosai J
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1998 ; 16 (9) : 3028-3036.
PMID 9738572
The desmoplastic small round cell tumor t(11;22) translocation produces EWS/WT1 isoforms with differing oncogenic properties.
Kim J, Lee K, Pelletier J
Oncogene. 1998 ; 16 (15) : 1973-1979.
PMID 9591781
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Written05-1999Christine Pérot


This paper should be referenced as such :
Pérot, C
Soft tissue tumors: Desmoplastic small round cell tumor
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):158-159.
Free journal version : [ pdf ]   [ DOI ]
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