Desmoplastic Small Round Cell Tumor in Transverse Colon: Report of a Rare Case

Abstract

Desmoplastic small round cell tumor (DSRCT) is an extremely rare, highly aggressive, malignant tumor of undetermined histogenesis. Adolescent males are primarily affected with a typically abdominal or pelvic mass. Diagnosis is based on histologic analysis of biopsy and cytogenetic studies. Owing to the rarity of the tumor and the unusually aggressive presentation, treatment is challenging and has not been standardized. DSRCT has a very poor prognosis, with a median survival range of 17 to 25 months. In this work, we report a case of DSRCT in the transverse colon, which has never before been reported in the literature. Our case study is of a 30-year-old Chinese female who presented with a history of 6 months abdominal discomfort and fatigue. A palpable, hardly mobile mass was detected in the right lower quadrant abdomen by physical examination. Abdominal and pelvic magnetic resonance imaging revealed an 8.0 3 10.5 3 11.1-cm mass with no pulmonary and hepatic metastasis. The patient underwent exploratory laparotomy and transverse colectomy, which revealed a mass in the transverse colon and no metastasis in the peritoneum, greater omentum, or mesentery. Immunohistochemistry findings revealed positive staining for epithelial, mesenchymal, and neural markers, which confirmed the presentation of DSRCT. A 6-month postoperative follow-up failed to find any recurrence. DSRCT is a highly aggressive, malignant, mesenchymal tumor with a very poor prognosis. No consensus has been reached for the treatment protocol of DSRCT. However, debulking surgery with postoperative chemotherapy or radiotherapy might promise more optimistic results on survival.

Use of anlotinib in intra-abdominal desmoplastic small round cell tumors: a case report and literature review

“…It formed a pathognomonic EWSR1-WT1 t(11;22)(p13:q12) chromosomal translocation that pairs the Ewing sarcoma (ES) gene (EWSR1) with the Wilm’s tumor suppressor gene (WT1). The functional loss of the WT1 tumor suppressor protein and the oncogenic effects caused by the aberrant 59 kDa fusion protein results in hundreds or thousands of nodules coating the intraabdominal serosal and subdiaphragmatic surfaces 12–14…”

Effective treatment of apatinib in desmoplastic small round cell tumor: a case report and literature review

“…Cytogenetic study shows unique (11:22), (p13:q12) translocation which resulted in an active fusion protein involving the Ewing sarcoma (EWS) and Wilms tumor (WT1) genes [ 4 ]. The presence of this translocation provides definitive diagnosis for DSRCT [ 22 ].…”

Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

“…Recent genomics analysis of mutational profiles indicated that epithelial-mesenchymal transition (EMT), immune response, and the DNA damage response (DDR) are associated with gene deregulation in DSRCT (35). Whole-exome sequencing of six consecutive pre-treated DSRCT samples identified 137 unique somatic mutations: 133 mutated genes were case-FIGURE 1 | Previous case reports reported primary sites of DSRCT, including kidney (2), bladder (3), pancreas (4), transverse colon (5), testes (6), ovary (7), mediastinum (8), pleura (9), lung (10), parotid gland (11), salivary glands (12), middle ear (13), sinonasal (14), orbital (15), intracranial cavity (16), subcutaneous site (17), femur (18), and bone of the hand (19). specific, and only 2 genes were overlapping among two cases but in different locations, which reveals the heterogeneity of the DSRCT genome.…”