Rhabdoid Carcinoma of the Colon: A Distinct Entity With Very Aggressive Behavior: A Case Report Associated With Polyposis Coli and Review of the Literature
Rhabdoid Carcinoma of the Colon: A Distinct Entity With Very Aggressive Behavior: A Case Report Associated With Polyposis Coli and Review of the Literature
复制标题
DOI：
10.1177/1066896911415405
复制
发表时间：
2012-04-01
影响因子：
1.2
通讯作者：
Vendraminelli, Roberto
中科院分区：
文献类型：
--
作者：
Remo, Andrea;Zanella, Caterina;Vendraminelli, Roberto
横纹肌样结肠肿瘤（RCT）是一种罕见的病变，其作为一个独立的实体存在争议。迄今为止，已报告了6项RCT。本研究报告了一例与结肠息肉病相关的73岁女性新病例。组织学上，肿瘤是异质性的，包括一个腺癌与横纹肌样特征。在横纹肌样成分中，MSH2表达强烈，而MLH1表达阴性。发现BRAF V600E突变，未发现KRAS突变。对表征CIMP状态具有高度特异性的基因亚组（NEUROG1、IGF2、RUNX3、SOCS1，包括MLH1）的启动子区被高甲基化，表明存在CIMP+和MSI高肿瘤。总之，所有RCT具有相似的临床特征。息肉和腺癌成分的存在以及间充质标志物的表达提示肉瘤性去分化。认为RCT可能是一种非常具有攻击性的结肠实体，可以从新的生物结肠治疗中受益。
Rhabdoid colon tumors (RCTs) are rare lesions whose existence as an independent distinct entity remains controversial. To date, 6 RCTs have been reported. This study reports a novel case associated with polyposis coli in a 73-year-old woman. Histologically, the neoplasia was heterogeneous consisting of an adenocarcinoma associated with rhabdoid features. In rhabdoid component, an intense expression of MSH2 was noted but MLH1 was negative. A BRAF V600E mutation and no KRAS mutations were identified. The promoter regions of subset of genes highly specific to characterize the CIMP status (NEUROG1, IGF2, RUNX3, SOCS1, including MLH1) were hypermethylated, suggesting the presence of CIMP+ and MSI high tumor. In conclusion, all RCTs have similar clinical features. The presence of polyposis and adenocarcinoma component as well as the expression of mesenchymal marker suggests a sarcomatous dedifferentiation. It is argued that RCT could be a very aggressive entity of colon, which could benefit from new biological colonic treatments.