胆总管鳞状细胞癌：一份基因组分析病例报告。

Squamous cell carcinoma of the common bile duct: A case report with genomic profiling.

机构信息

Department of Pathology, Odense University Hospital, Odense, Denmark.

Department of Surgery, Odense University Hospital, Odense, Denmark.

出版信息

Pathol Int. 2019 Jul;69(7):427-431. doi: 10.1111/pin.12806. Epub 2019 Jul 8.

DOI:10.1111/pin.12806

PMID:31286611

Abstract

Squamous cell carcinoma of the extrahepatic bile ducts is a very rare type of cancer with a virtually unknown pathogenesis. We present the case of a 66-year-old woman who underwent a pancreaticoduodenectomy with the postoperative diagnosis of squamous cell carcinoma of the common bile duct. Microscopically, the entire common bile duct showed squamous metaplasia. Besides, an invasive squamous cell carcinoma was found, stage pT3pN0. A next generation sequencing assay covering 315 tumor-related genes revealed genomic alterations in seven genes: FBXW7, CREBBP, CTCF, FAT1, MAGI2, MLL2, and NOTCH1.

摘要

肝外胆管鳞状细胞癌是一种非常罕见的癌症，其发病机制几乎未知。我们报告了一例 66 岁女性患者，她接受了胰十二指肠切除术，术后诊断为胆总管鳞状细胞癌。显微镜下，整个胆总管均显示鳞状上皮化生。此外，还发现了浸润性鳞状细胞癌，分期为 pT3pN0。涵盖 315 个肿瘤相关基因的下一代测序检测显示 7 个基因存在基因组改变：FBXW7、CREBBP、CTCF、FAT1、MAGI2、MLL2 和 NOTCH1。