Serafini Francesco M, Radvinsky David
Kings County Hospital Center, Brooklyn, NY, United States; SUNY Downstate Medical Center, Brooklyn, NY 11203, United States.
SUNY Downstate Medical Center, Brooklyn, NY 11203, United States.
Cancer Genet. 2016 Dec;209(12):554-558. doi: 10.1016/j.cancergen.2016.07.004. Epub 2016 Aug 16.
Cholangiocarcinoma (CCA) is an aggressive malignancy that originates from the epithelial cells of the biliary duct system. Depending on the anatomical location, CCA can be considered extrahepatic (eCCA) or intrahepatic (iCCA) (1). Two thirds of CCAs involve the extrahepatic biliary system, whereas the rest are confined within the liver parenchyma, beyond the secondary biliary radicals (2). Due to its biological aggressiveness and difficulty in diagnosis, the majority of patients with CCA are unresectable at presentation and the overall 5-year survival is approximately five percent (4). This article focuses on the genetic and epigenetic alterations present in cholangiocarcinomas, their occasional relationship to external stimuli, and with an emphasis on those unanswered questions about cholangiocarcinogenesis and future directions in the comprehension of epigenetic DNA methylation in patients with CCA.
胆管癌(CCA)是一种侵袭性恶性肿瘤,起源于胆管系统的上皮细胞。根据解剖位置,CCA可分为肝外胆管癌(eCCA)或肝内胆管癌(iCCA)(1)。三分之二的CCA累及肝外胆管系统,其余局限于肝实质内,超出二级胆管分支(2)。由于其生物学侵袭性和诊断困难,大多数CCA患者在初诊时无法切除,总体5年生存率约为5%(4)。本文重点关注胆管癌中存在的基因和表观遗传改变、它们与外部刺激的偶然关系,并着重探讨那些关于胆管癌发生以及理解CCA患者表观遗传DNA甲基化方面尚未解答的问题和未来方向。