Bolzacchini Elena, Digiacomo Nunzio, Marrazzo Cristina, Sahnane Nora, Maragliano Roberta, Gill Anthony, Albarello Luca, Sessa Fausto, Furlan Daniela, Capella Carlo
Unit of Oncology, ASST-Lariana, 22100 Como, Italy.
Unit of Pathology, Dept. of Medicine and Surgery and Research Center for the Study of Hereditary and Familial tumors, University of Insubria, 21100 Varese, Italy.
Cancers (Basel). 2019 Aug 26;11(9):1252. doi: 10.3390/cancers11091252.
Colorectal rhabdoid carcinomas (CRbCs) are very rare and aggressive cancers. The mutation 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 neutrophilic infiltration. The PDMCs were positive for pancytokeratin but negative for vimentin and showed moderate peritumoral/intratumoral CD8+ lymphocytes. All PDMCs showed SMARCB1(INI-1) expression. The coexistence of and mutations was observed in 80% of CRbCs and PDMCs. PDMCs always showed microsatellite instability and CpG island methylator phenotype (CIMP), while CRbCs were CIMP negative and exhibited microsatellite instability (MSI) in two out of seven cases. CRbCs are characterized by and mutations. Loss/reduced expression of nuclear SMARCB1/INI, intense vimentin immunostaining, dense neutrophilic infiltration, and low frequency of CIMP are useful markers to recognize these rare aggressive tumors.
结直肠横纹肌样癌（CRbCs）是非常罕见且侵袭性很强的癌症。据报道，突变和CpG岛甲基化表型是CRbCs的常见特征。本研究回顾了关于CRbCs的文献，并分析了7例CRbCs的临床病理和分子特征，这些病例的特点是细胞大且松散，嗜酸性细胞质丰富，可见透明包涵体以及大的圆形至豆形细胞核。为作比较，我们纳入了4例低分化髓样癌（PDMCs），其局部表现类似横纹肌样特征。两个亚组的总生存期均较差，78%的患者在2 - 11个月内死于该疾病。CRbCs的主要特征为：SMARCB1/INI表达缺失或减少、波形蛋白免疫染色强阳性以及密集的中性粒细胞浸润。PDMCs全细胞角蛋白呈阳性，但波形蛋白呈阴性，且肿瘤周围/肿瘤内CD8 +淋巴细胞中度浸润。所有PDMCs均显示SMARCB1（INI - 1）表达。在80%的CRbCs和PDMCs中观察到 和 突变共存。PDMCs总是表现为微卫星不稳定性和CpG岛甲基化表型（CIMP），而CRbCs为CIMP阴性，7例中有2例表现为微卫星不稳定性（MSI）。CRbCs的特征为 和 突变。核SMARCB1/INI表达缺失/减少、波形蛋白免疫染色强阳性、密集的中性粒细胞浸润以及低频率的CIMP是识别这些罕见侵袭性肿瘤的有用标志物。
