Department of Pathology and Molecular Diagnostics, Aichi Cancer Center, Nagoya, Japan; Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Department of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Pathology. 2024 Oct;56(6):804-813. doi: 10.1016/j.pathol.2024.03.010. Epub 2024 Jun 4.
Hepatocyte nuclear factors (HNF) 6 and 4α are master transcriptional regulators of development and maintenance of the liver and pancreaticobiliary tract in mice and humans. However, little is known about the prevalence of HNF6 and HNF4α expression in carcinomas of the hepatobiliary tract and pancreas. We aimed to reveal the diagnostic utility of HNF6 and HNF4α immunolabelling in adenocarcinomas of these organs. We investigated HNF6 and HNF4α expression by immunohistochemistry using a total of 480 adenocarcinomas of the digestive system, including 282 of the hepatobiliary tract and pancreas and 198 of the gastrointestinal tract. HNF6 expression was primarily restricted to intrahepatic cholangiocarcinomas (CCs) (63%, n=80) and gallbladder adenocarcinomas (43%, n=88), among others. Notably, small duct intrahepatic CCs almost invariably expressed HNF6 (90%, n=42), showing stark contrast to a low prevalence in large duct intrahepatic CCs (10%, n=21; p<0.0001). HNF6 expression was infrequent in extrahepatic CCs (9%, n=55) and pancreatic ductal adenocarcinomas (7%, n=58), and it was rare in adenocarcinomas of the gastrointestinal tract [oesophagus/oesophagogastric junction (EGJ) (2%, n=45), stomach (2%, n=86), duodenum (0%, n=25), and colorectum (0%, n=42)]. In contrast, HNF4α was widely expressed among adenocarcinomas of the digestive system, including intrahepatic CCs (88%), extrahepatic CCs (94%), adenocarcinomas of the gallbladder (98%), pancreas (98%), oesophagus/EGJ (96%), stomach (98%), duodenum (80%), and colorectum (100%). HNF6 was frequently expressed in and almost restricted to intrahepatic CCs of small duct type and gallbladder adenocarcinomas, while HNF4α was expressed throughout adenocarcinomas of the digestive system. HNF6 immunolabelling may be useful in distinguishing small duct intrahepatic CCs from other types of CC as well as metastatic gastrointestinal adenocarcinomas.
肝细胞核因子 (HNF) 6 和 4α 是调控小鼠和人类肝脏及肝胆管发育和维持的主要转录调节因子。然而,人们对其在肝胆道和胰腺腺癌中的表达普遍性知之甚少。我们旨在揭示 HNF6 和 HNF4α 免疫标记在这些器官腺癌中的诊断效用。我们通过免疫组织化学法共检测了 480 例消化系统腺癌,包括 282 例肝胆道和胰腺腺癌及 198 例胃肠道腺癌,以研究 HNF6 和 HNF4α 的表达情况。HNF6 表达主要局限于肝内胆管癌 (ICC) (63%,n=80) 和胆囊腺癌 (43%,n=88) 等。值得注意的是,小胆管型肝内 ICC 几乎无一例外地表达 HNF6 (90%,n=42),与大胆管型肝内 ICC 的低发生率形成鲜明对比 (10%,n=21;p<0.0001)。HNF6 在肝外 ICC (9%,n=55) 和胰腺导管腺癌 (7%,n=58) 中表达不常见,在胃肠道腺癌中也很少见[食管/食管胃交界 (EGJ) (2%,n=45)、胃 (2%,n=86)、十二指肠 (0%,n=25)和结直肠 (0%,n=42)]。相比之下,HNF4α 在消化系统腺癌中广泛表达,包括肝内 ICC (88%)、肝外 ICC (94%)、胆囊腺癌 (98%)、胰腺腺癌 (98%)、食管/EGJ (96%)、胃 (98%)、十二指肠 (80%)和结直肠 (100%)。HNF6 频繁表达并几乎局限于小胆管型肝内 ICC 和胆囊腺癌,而 HNF4α 则在消化系统的腺癌中均有表达。HNF6 免疫标记可能有助于鉴别小胆管型肝内 ICC 和其他类型的 ICC 以及转移性胃肠道腺癌。