肠型胆管内乳头状肿瘤的病理和遗传学特征

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  摘要:肠型胆管内乳头状肿瘤(intraductal papillary neoplasm of the bile duct,ilPNB)表现为柱状细胞,假复层排列、胞核雪茄状,胞质嗜碱性或双嗜染性,免疫组化染色CK20和/或CDX2弥漫表达。本研究旨在探讨该肿瘤的病理和遗传学特征。对34例ilPNB按解剖部位(胆管)进行了病理学检查,并与22例肠型胰腺导管内乳头状粘液性肿瘤(intraductal papillary mucinous neoplasm,ilPMN)进行对比分析。使用TruSight Tumor 26和二代测序法检测了21例经福尔马林固定、石蜡包埋的ilPNB患者组织标本中的26个体细胞突变基因。所有这些ilPNB病例被分成肝内(n=6)和肝外(n=28)两种类型。肝内型lPNB主要表现为单纯的绒毛-乳头状模式,而肝外型lPNB的乳头包括管状和/或绒毛状结构,且结构复杂,伴有明显重度异型增生。MUC5AC在肝内ilPNB和ilPMN中多广泛表达,而在肝外ilPNB中不表达。CD10在肝外IPNB中表达较多,而在肝内ilPNB和ilPMN中不表达。TP53和PIK3CA基因突变在肝外ilPNB 中常见,而在ilPMN 中罕见或缺失;KRAS和GNAS突变在肝内ilPNB和ilPMN中都较常见。肝内ilPNB呈绒毛-乳头状生长,其特征类似于ilPMN;而肝外ilPNB与ilPMN不同,乳头含有管状和/或绒毛状结构,组织学复杂,这些都提示,由于位于胆管树不同的位置,ilPNB 在肿瘤发生学方面存在差别。
  关键词:胆管树,胆管内乳头状肿瘤,肠型,胰腺导管内乳头状粘液性肿瘤,二代测序
(Am J Surg Pathol 2019;43:1212-1220)
美国外科病理学杂志中文版2020年第一期摘要NO.3
(刘霞 翻译 贾永峰 审校)
  The American Journal of Surgical Pathology 中文版版权说明:
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