A recurring translocation, t(11;22)(p13;q11.2), characterizes intra-abdominal desmoplastic small round-cell tumors

Retrovesical desmoplastic small round cell tumor in a patient with urinary frequency

“…Radiologic findings revealed little evidence confirming the diagnosis. A calcification shadow within the tumor has been reported in prior reports, 5,11 but this was absent in this case. The combined histologic and immunohistologic findings were basically identical to previous reports of DSRCT.…”

Cytology of desmoplastic small round cell tumor

“…1,[5][6][7]10 Cytologically, DSRCT must be distinguished from Ewing sarcoma/PNET, neuroblastoma, Wilms' tumor, lymphoma, rhabdomyosarcoma, and malignant rhabdoid tumor. Mesothelioma, which may present with diffuse peritoneal involvement, also may be considered in the differential diagnosis, but the patient population and the cytomorphologic features of mesothelioma are quite different from those of DSRCT and other small round cell tumors.…”

“…1,2,5,6 Cytogenetic studies have demonstrated a reciprocal chromosome translocation, t(11;22)(p13;q12), which is different from the t(11;22)(q24;q12) translocation observed in Ewing sarcoma/peripheral neuroectodermal tumor (PNET). 6,7 Molecular studies have shown consistent fusion of the EWS and WT1 genes, resulting in a chimeric EWS-WT1 RNA. 8 To our knowledge the cytology literature concerning DSRCT is limited and generally is comprised of case reports that include findings in both aspirate material and ascitic fluid.…”

Desmoplastic Small Round Cell Tumors in a Young Man

“…However, the cytogenetic and molecular genetic analyses of small round cell tumors reveal distinctive findings that help in reaching a diagnosis. The chromosomal translocation t (11;22)(p13;q12), which leads to fusion of the WT1 and EWS genes, is specific to DSRCT, and the presence of this fusion gene assists with making the final diagnosis (7,8). Making the differential diagnosis is crucial, since treatment strategies differ.…”

“…Histological examinations reveal sheets or nests of uniform small, round or ovoid cells within a desmoplastic stroma (5,6). DSRCT has a polyphenotypic immunoprofile and is positive for the EWS-WT1 fusion transcript (7,8). Most patients are diagnosed in the advanced stage and have a poor prognosis.…”