학술논문

A case of β-catenin-activated hepatocellular adenoma with TERT promoter mutation in a young woman not taking oral contraceptives / 経口避妊薬服用歴のない女性に発生しTERT promoter領域遺伝子変異を伴うβ-catenin活性化型肝細胞腺腫の一例
Document Type
Journal Article
Source
肝臓 / Kanzo. 2020, 61(9):461
Subject
TERT promoter mutation
TERT promoter 領域遺伝子変異
intratumor heterogeneity
malignant transformation
nodule in nodule
β-catenin activated hepatocellular adenoma
β-catenin 活性化型肝細胞腺腫
悪性転化
結節内結節
腫瘍内多様性
Language
Japanese
ISSN
0451-4203
1881-3593
Abstract
The patient was a 37-year-old woman not taking oral contraceptives. An 80-mm single nodule was found in S7 of the liver by screening ultrasonography. MRI revealed hypo-intensity on T1WI and iso-intensity on T2WI. CT during hepatic arteriography was strongly enhanced and that during portography demonstrated the nodule to be a defective lesion. The patient underwent percutaneous biopsy. Histopathologically, the biopsied specimens of the inner and outer nodules consisted of hepatocytes with mild atypia. Immunohistochemically, the tumor cells of both regions were positive for β-catenin, suggesting the presence of β-catenin-activated hepatocellular adenoma (b-HCA). The tumor was resected. It exhibited a nodule-in-nodule structure, was 9.8 cm in diameter, and was diagnosed as b-HCA. Mutation analysis revealed a mutation in the telomerase reverse-transcriptase (TERT) promoter region only in the inner nodule. The nodule-in-nodule structure and localized TERT promoter mutation of the inner nodule suggested a precancerous change in multistep carcinogenesis.