Intra-abdominal desmoplastic small round cell tumor: Presentation of four cases and review of the literature

Abstract

Desmoplastic small round cell tumor (DSRCT) of the abdomen is a recently identified aggressive neoplasm. Very few cases have been reported in the literature. Thus, the treatment guidelines are yet to be defined. The role of chemotherapy, radiotherapy and surgery is evolving. We treated four cases of DSRCT involving the abdomen using combination chemotherapy and/or tumor cytoreductive surgery. There were two men and two women. The chemotherapy drugs consisted of cisplatin, adriamycin, etoposide, ifosphamide, vincristine and cyclophsophamide. All patients achieved meaningful partial response to chemotherapy, which maintained for 6–9 months. There were very minimal chemotherapy-related complications. At the time of reporting, the median survival time was 15 months. Thus, DSRCT is an aggressive intra-abdominal tumor with excellent chemoresponsiveness, but relapse is frequent.

Metastasized Intraabdominal Desmoplastic Small Round Cell Tumor

“…It is positive for desmin (100%), AE1, AE3 (100%), epithelial membrane antigen (100%), cytokeratin (100%) and specific neuronal enolase (100%). The S100 and CD99 markers are partially positive [2,4,9]. The molecular identification (FISH RT-PCR) confirms, in almost all cases, a specific translocation t(11, 22) (p13; q12) that is juxtaposed to the gene EWSR1 and to the tumor suppressor gene WT1 [4,6].…”

“…Distant metastasis is frequent at presentation, ranging from 30 to 50% in different studies. So, the initial staging of such patients should include the screening of metastasis, particularly in the liver, lung and bone [3,4]. In the described case, the presenting symptom was triggered by liver metastasis (pain in the right upper quadrant).…”

“…Ultrasound and MRI do not seem to add any value in the characterization of lesions, although ultrasound may be useful for guiding percutaneous biopsy of more superficial lesions [5,6,9]. The PET_FDG is a useful test for the identification of occult lesions not identified in the CT and MRI, evaluation of the response to chemo and radiotherapy and early detection of recurrence [4,5,8,10].…”

“…The surgical goal is to remove >90% of the tumor, and resection to less than 1.0 cm tumor size (is mostly requires omentectomy, peritoneal stripping, splenectomy for hilar involvement, and local resection of the diaphragmatic peritoneum) [5]. This surgical cytoreduction is possible in 60% of the cases, associated with a better long-term prognosis [2,4]. The cytoreduction followed by systemic chemotherapy with or without radiation therapy has shown the best results in terms of survival [3,8].…”

“…The diagnosis is based on histology, immunohistochemistry and cytogenetics. It is associated to specific chromosomal translocations t(11;22) (p13; q12), t(5;19), t(X; 16) and t(4; 10) [2,4,5,6]. Histologically it is characterized by the presence of small round blue and undifferentiated cells surrounded by fibrous and desmoplastic stroma.…”