Clinicopathological features of desmoplastic small round cell tumors: clinical series and literature review

World Journal of Surgical Oncology

Ping-Ping Sun¹  Ying Gao¹  Hong Chang¹  Ling-Ling Wang¹  Yan Li²  Zhong-He Ji³ 

[1] Department of Pathology, Beijing Shijitan Hospital, Capital Medical University, 100038, Beijing, People’s Republic of China;Department of Pathology, Beijing Shijitan Hospital, Capital Medical University, 100038, Beijing, People’s Republic of China;Department of Peritoneal Cancer Surgery, Beijing Shijitan Hospital, Capital Medical University, No 10, Tieyi Road, Yangfangdian Street, Haidian District, 100038, Beijing, People’s Republic of China;Department of Peritoneal Cancer Surgery, Beijing Shijitan Hospital, Capital Medical University, No 10, Tieyi Road, Yangfangdian Street, Haidian District, 100038, Beijing, People’s Republic of China;

关键词: Desmoplastic small round cell tumor;    Pathology;    EWSR1-WT1;    Desmin;    Vimentin;   

DOI  :  10.1186/s12957-021-02310-6

来源: Springer

【 摘 要 】

Background and purposeDesmoplastic small round cell tumor (DSRCT) is a highly malignant sarcoma that occurs in the abdominopelvic cavities of adolescents. The accurate diagnosis of DSRCT is challenging owing to limited literatures. Our study aimed to investigate the relationship between clinicopathological features and prognosis in patients with DSRCTs.MethodsData of 8 patients with DSRCT originating from the abdominal cavity were retrospectively reviewed. The clinical manifestations, pathological characteristics, treatment approaches, and prognosis were analyzed. The histopathological (identified using hematoxylin-eosin staining), immunohistochemical, and molecular diagnostic (using fluorescence in situ hybridization) features were also reviewed.ResultsAll patients were male aged between 24 and 45 years (median age, 30 years). The main clinical symptoms included abdominal distension, abdominal pain, and constipation. Seven of the 8 patients developed metastases to either distant organs or lymph nodes. Multiple gray nodules with diameters of 1–10 cm and poorly defined boundaries were scattered throughout the omentum and mesentery. Histopathological examination demonstrated well-defined nests composed of small round blue cells separated by markedly desmoplastic stroma. Immunohistochemical analysis revealed positive expressions of desmin, vimentin and C-terminal of Wilm’s tumor suppressor (WT-1). The Ewing sarcoma breakpoint region 1 gene fused with WT1 (EWSR1-WT1) gene fusion was detected in all patients. Cytoreductive surgery (CRS) was performed in 6 patients. Follow-up period ranged from 7.5 to 28.5 months with a median of 17.2 months. Three patients died during follow-up.ConclusionDSRCT is highly aggressive and presents distinctive morphological features. CRS is the essential therapy for DSRCT. A test for the combined expression of desmin, cytokeratins, and C-terminal of WT-1, as well as the analysis of morphologic features, might be helpful during DSRCT diagnosis, and the EWSR1-WT1 gene fusion is the gold standard for definitive diagnosis. Our work will provide new insights into the diagnosis and treatment of DSRCTs.

【 授权许可】

CC BY