Desmoplastic Small Round Cell Tumor: Current Management and Recent Findings

Abstract

Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive mesenchymal tumor that develops in the abdominal cavity of young men adults. Patients typically present with symptoms of abdominal sarcomatosis. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma. DSRCT is associated with a unique chromosomal translocation t(11:22) (p 13; q 12) that involves the EWSR1 and WT1 genes. The prognosis is particularly poor; median survival ranges from 17 to 25 months, largely due to the presentation of the majority of patients with metastatic disease. Management of DSRCT remains challenging and current schemes lack a significant cure rate despite the use of aggressive treatments such as polychemotherapy, debulking surgery and whole abdominal radiation. Several methods are being evaluated to improve survival: addition of chemotherapy and targeted therapies to standard neoadjuvant protocol, completion of surgical resection with HIPEC, postoperative IMRT, treatment of hepatic metastases with [90Y]Yttrium microsphere liver embolization.

Feasibility of Administering A Modified Outpatient Regimen of Vincristine, Doxorubicin, Cyclophosphamide Alternating with Ifosfamide, and Etoposide (VAC/IE) For High-Risk Desmoplastic Small Round Blue Cell Tumor and the Role of Tumor Profiling in Selecting Treatments

“…Unfortunately, durable responses are limited, and the prognosis for patients remains poor [32]. Median survival ranges from 14 to 25 years [14] with some reports with patients as young as 5 months [33]. 3-year overall survival is dismal at around 44% and the 5-year survival rate a dismal 15% [8] with a slightly higher survival reported among those undergoing debulking including 1-2 mm implants [34] of at least 90% of tumor absence of extraperitoneal metastasis [32].…”

“…The differential includes Ewing sarcoma family tumors including rhabdomyosarcoma, neuroblastoma, lymphoma, small cell carcinoma, neuroendocrine tumors, synovial sarcoma, blastic variant of Wilms' tumor in children [13,14].…”

“…The t(11;22) (p13;q12) translocation. It has a predilection of developing in the abdominal and pelvic cavity of young adult men in 88-97% of cases [14,23,36].…”

Desmoplastic Small Round Cell Tumor in the Child

“…Встречаются данные о первичной внебрюшной локализации опухоли в грудной клетке, яичках, яичниках. В большинстве случаев метастазами поражается печень и легкие [4,8].…”

“…По данным ряда авторов, на сегодняшний день в мире официально заре-гистрировано немногим больше 300 случаев ДМККО [1,3,4]. Средний возраст манифестации опухолевого процесса -22 года (колеблется от 6 до 49 лет); соотношение мужчин и женщин -4:1 [5][6][7].…”