Multiple Desmoplastic Small Round Cell Tumor in the Intestine: A Case Report

Desmoplastic small round cell tumor (DSRCT) is a highly malignant sarcoma and an extremely rare tumor, predominantly found in the abdominal and pelvic regions. Here, we report the case of a patient who underwent surgical treatment for multiple desmoplastic round cell tumor in the intestine.

A 38-year-old male patient visited our hospital after a health check revealed positive occult blood in his stool and a colonoscopy revealed tumors in descending colon and sigmoid colon. Biopsy results revealed poorly differentiated adenocarcinoma. Chest and abdominal enhanced computed tomography revealed 3 tumors from descending colon to sigmoid colon and numerous peritoneal disseminations. Based on these findings, we diagnosed multiple colon cancers and performed a laparoscopic left hemicolectomy. Hematoxylin-Eosin (H&E) staining showed that in all tumors, atypical cells with large and small swollen nuclei formed irregular solid nests of various sizes against a background of extensive desmoplastic or myxomatous stroma. Immunohistochemistry showed that tumor cells were AE1/3 (+), S-100 (-), Desmin (-), WT1 (-). Genetic analysis detected the Ewing's sarcoma and Wilms tumor fusion gene at another inspection agency. Histopathological examination identified desmoplastic small round cell tumor. The patient was discharged on the 19th postoperative day without postoperative complications. He will undergo chemotherapy at another hospital.

We experienced a very rare case of DSRCT. DSRCT is a fatal disease that primarily affects adolescent and young adult males. Currently, there is no proven treatment. More case reports are essential to improve management of this disease.