BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas.

ABSTRACT: Colorectal rhabdoid carcinomas (CRbCs) are very rare and aggressive cancers. The BRAFmutation and CpG island methylator phenotype have been reported to be common features ofCRbCs. This study reviews the literature about CRbCs and analyzes the clinicopathological andmolecular profiles of seven CRbCs characterized by large discohesive cells with abundanteosinophilic cytoplasm, showing hyaline inclusions and large rounded to bean-shaped nuclei. Forcomparison, we included four poorly differentiated medullary carcinomas (PDMCs) with focalaspects mimicking rhabdoid features. Overall survival was poor in both subsets, with 78% ofpatients dying of disease within 2-11 months. The main features of CRbCs were: Loss of/reduced SMARCB1/INI expression, intense vimentin immunostaining, and dense n

SUBMITTER: Bolzacchini E 

PROVIDER: S-EPMC6770689 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature