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伴有β-连环蛋白突变的未分类肝细胞腺瘤:一例报告

Unclassified hepatocellular adenoma with beta-catenin mutation: a case report.

作者信息

Muranushi Ryo, Araki Kenichiro, Harimoto Norifumi, Yokobori Takehiko, Hoshino Kouki, Hagiwara Kei, Ishii Norihiro, Tsukagoshi Mariko, Igarashi Takamichi, Watanabe Akira, Kubo Norio, Aishima Shinichi, Shirabe Ken

机构信息

Department of General Surgical Science, Division of Hepatobiliary and Pancreatic Surgery, Graduate School of Medicine, Gunma University, 22 Showa-Machi, Maebashi, Gunma, 371-8511, Japan.

Division of Integrated Oncology Research, Gunma University Initiative for Advanced Research (GIAR), Maebashi, Japan.

出版信息

Surg Case Rep. 2021 Feb 12;7(1):46. doi: 10.1186/s40792-021-01131-9.

Abstract

BACKGROUND

Hepatocellular adenoma (HCA) subtypes are considered as risk factors for malignant transformation; thus, an accurate diagnosis is important. We report a case of resected HCA previously diagnosed as unclassified HCA using immunohistochemistry, subsequently discovered to harbor a mutation in exon 3 of the beta (β)-catenin gene using deoxyribonucleic acid (DNA) sequencing.

CASE PRESENTATION

The patient was a 26-year-old woman who was referred to our hospital because of a 150-mm tumor in the right lobe of the liver. Considering the possibility of malignancy, we performed right lobe hepatectomy. Based on the histopathological and immunohistochemical findings, the tumor was diagnosed as an unclassified HCA. Next, we performed sequencing of DNA isolated from the tumor and identified a mutation in exon 3 of β-catenin, suggesting that the tumor contained an activating mutation of the β-catenin gene.

CONCLUSION

β-Catenin mutations in HCA cannot be detected by immunohistochemistry alone, and molecular analysis is required to accurately diagnose and evaluate its prognosis.

摘要

背景

肝细胞腺瘤(HCA)亚型被认为是恶性转化的危险因素;因此,准确诊断很重要。我们报告一例经手术切除的HCA病例,该病例先前通过免疫组织化学诊断为未分类HCA,随后通过脱氧核糖核酸(DNA)测序发现其β-连环蛋白基因第3外显子存在突变。

病例介绍

患者为一名26岁女性,因肝脏右叶有一个150毫米的肿瘤被转诊至我院。考虑到恶性肿瘤的可能性,我们进行了右叶肝切除术。根据组织病理学和免疫组织化学结果,该肿瘤被诊断为未分类HCA。接下来,我们对从肿瘤中分离的DNA进行测序,发现β-连环蛋白第3外显子存在突变,提示该肿瘤存在β-连环蛋白基因的激活突变。

结论

HCA中的β-连环蛋白突变不能仅通过免疫组织化学检测到,需要进行分子分析以准确诊断并评估其预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fdb/7881073/f5f03c2d487d/40792_2021_1131_Fig1_HTML.jpg

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