INI1-negative colorectal undifferentiated carcinoma with rhabdoid features and postoperative rapidly growing liver metastases: a case report and review of the literature

Abstract

Background Malignant tumors with rhabdoid features are extremely rare. They can occur in various organs, including the gastrointestinal tract, with common clinical features of high malignancy and poor prognosis. Case presentation A 41-year-old man visited our hospital complaining of lower abdominal pain and fever. Computed tomography (CT) revealed two wall-thickening lesions in the rectum and sigmoid colon, with the latter invading the small intestine and abdominal wall. Lymph nodes were swollen in the sigmoid mesocolon and at the roots of the inferior mesenteric artery. Colonoscopy revealed a circular type 3 lesion in the sigmoid colon and a semicircular type 2 lesion in the rectum. Biopsies of the sigmoid colon and rectum lesions revealed poorly and moderately differentiated adenocarcinoma cells, respectively. The sigmoid colon, rectum, invaded small intestine, and abdominal wall were resected; lymph node dissection was also performed. Histopathological finding of the sigmoid colon lesion revealed that the tumor cells had poor connectivity with each other, and each cell had eosinophilic cytoplasm and a polymorphic nucleus. These characteristics are termed rhabdoid features, because the morphology of these cells is similar to that of rhabdomyosarcoma tumor cells. Immunohistochemical examination showed that the tumor cells were positive for both epithelial (cytokeratin AE1/AE3) and mesenchymal cell markers (vimentin); however, they were negative for integrase interactor 1 (INI1). Therefore, the sigmoid colorectal cancer was diagnosed as an INI1-negative undifferentiated carcinoma with rhabdoid features. The patient continued to experience high fever after surgery; thus, we performed an abdominal CT scan that revealed cystic lesions in the liver 4 days after surgery. These were absent in the positron emission tomography (PET)-CT scan performed 14 days before surgery. These tumors grew rapidly, and fine needle aspiration cytology revealed that they were undifferentiated carcinomas compatible with metastatic lesions from the undifferentiated carcinoma with rhabdoid features from the sigmoid colon. Chemotherapy was administered but was not effective. The patient died 60 days after surgery. Conclusions INI1-negative colorectal undifferentiated carcinomas with rhabdoid features are extremely rare, have high histological malignancy, and a poor prognosis. Chemotherapy is not effective. Effective systemic therapy is desired.

A Rare Case of Undifferentiated Rhabdoid Carcinoma of the Colon

“…Out of the 17 cases studied by the authors, none were noted to have GI perforation which was a unique presentation in our patient. A second literature review was performed by Kojima et al in 2021 where the authors reported a total of 28 cases from 1993 to 2019 [ 1 ]. Here, only four cases of RCC demonstrated no metastasis which was also consistent with our patient.…”

“…Nonmalignant RCC therefore, appears to be more infrequent than malignant RCC. In the same study, the authors found that the median overall survival of patients with undifferentiated carcinoma with rhabdoid features was three months [ 1 ].…”

“…Malignant rhabdoid tumors (MRTs) are associated with carcinoma, sarcoma, and carcinosarcoma, depending on the tissue it develops in [ 1 ]. In colorectal adenocarcinomas, they are named as undifferentiated carcinomas with rhabdoid features or rhabdoid carcinoma of the colon.…”

“…In colorectal adenocarcinomas, they are named as undifferentiated carcinomas with rhabdoid features or rhabdoid carcinoma of the colon. MRT cells have eosinophilic cytoplasm, oval or circular nuclei with prominent nucleoli, and vitreous inclusion bodies [ 1 , 3 ]. Tumor cells have low adhesion, high mitotic potential, and are prone to infiltrate other organs [ 1 ].…”

“…Undifferentiated carcinoma of the colon with rhabdoid features are tumors of the gastrointestinal (GI) tract infrequently reported in literature. These belong to the family of malignant rhabdoid tumors (MRTs) that are rare, associated with poor prognosis, and can occur in various organs including the GI tract, heart, nervous system, breast, and urinary tract [ 1 , 2 ]. Their histological hallmark consists of cells characterized by an eccentrically located and large nucleus, prominent nucleoli, and cytosolic aggregates of intermediate filaments [ 3 ].…”