SMARCB1型
神经母细胞瘤RAS病毒癌基因同源物
克拉斯
表型
病理
恶性肿瘤
生物
结直肠癌
医学
癌症研究
癌症
内科学
基因
遗传学
染色质
染色质重塑
作者
Shivali Maurya,Sujata Yadav,Subham Bhowmik,Jasmine Dhal,Lalita Mehra,Raju Sharma,Asuri Krishna,Atul Sharma,Adarsh Barwad,Prasenjit Das
标识
DOI:10.1177/10668969231171134
摘要
Poorly differentiated colonic carcinoma with rhabdoid features is a rarely described entity. Our knowledge regarding the molecular phenotype of the tumor is evolving. We herein report a similar tumor with rhabdoid differentiation identified in the splenic flexure, which on histological examination showed a poorly differentiated phenotype with epithelioid to spindled morphology, tumor giant cells, and rhabdoid differentiation. The tumor was mismatch repair-proficient, deficient of INI1/SMARCB1, KRAS mutated (A146×), BRAFV600E mutated (c.1799T > A), and NRAS wild-type, indicating serrated differentiation in the tumor. The patient died after 3.5 months post-surgery. INI1-deficient poorly differentiated carcinoma of the colon is a rare, aggressive colonic malignancy showing a serrated phenotype. Routine identification and subtyping are important keeping in mind the distinct tumor phenotype, resistance to conventional chemotherapy, and dismal prognosis.
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