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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881073/
https://www.ncbi.nlm.nih.gov/pubmed/33580445
http://dx.doi.org/10.1186/s40792-021-01131-9
Descripción
Sumario: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.