37076Department of Diagnostic Pathology, Ishikawa Prefectural Central Hospital, Ishikawa, 9208530, Japan.
37076Department of Gastroenterological Surgery, Ishikawa Prefectural Central Hospital, Ishikawa, 9208530, Japan.
Int J Surg Pathol. 2022 Aug;30(5):581-585. doi: 10.1177/10668969211070169. Epub 2021 Dec 27.
Intrahepatic cholangiocarcinoma with rhabdoid morphology is rare, and only three case reports have been published to date, none of which discuss the genetic changes in the rhabdoid component. We present a case of intrahepatic cholangiocarcinoma with focal rhabdoid features and SMARCA4-deficiency detected using immunohistochemistry. A Japanese man in his 60s without viral hepatitis was diagnosed with an avascular tumor in the liver, measuring 4.4 cm in the greatest dimension. The tumor was mostly composed of moderately differentiated adenocarcinoma, focal poorly differentiated adenocarcinoma, and an undifferentiated rhabdoid component. Immunohistochemical analysis showed an inclusion-like staining pattern for keratin AE1/AE3 and vimentin in the rhabdoid component. BRG1/SMARCA4 was detected in the differentiated component but not in the poorly- and undifferentiated components. Our novel findings reflecting the morphological and genetic heterogeneity of intrahepatic cholangiocarcinoma and will aid the research on drugs targeting the aberrant SWItch/Sucrose NonFermentable complex.
肝内胆管细胞癌伴横纹肌样形态学特征较为罕见，迄今为止仅发表了 3 例病例报告，均未探讨横纹肌样成分的遗传改变。我们报告了一例肝内胆管细胞癌伴局灶性横纹肌样特征和免疫组织化学检测到的 SMARCA4 缺失的病例。一名 60 多岁的日本男性，无病毒性肝炎，被诊断为肝脏无血管肿瘤，最大直径为 4.4cm。肿瘤主要由中分化腺癌、局灶性低分化腺癌和未分化横纹肌样成分组成。免疫组织化学分析显示横纹肌样成分中角蛋白 AE1/AE3 和波形蛋白呈包涵体样染色。BRG1/SMARCA4 在分化成分中检测到，但在低分化和未分化成分中未检测到。我们的新发现反映了肝内胆管细胞癌的形态和遗传异质性，将有助于针对异常 SWItch/Sucrose NonFermentable 复合物的药物研究。
