具有非典型临床形态和基因变异的家族性腺瘤性息肉病

Familial Adenomatous Polyposis with Atypical Clinical Morphology and Genetic Variants.

作者信息

Komeda Yoriaki, Ishikawa Hideki, Yoshida Teruhiko, Ushiama Mineko, Yoshida Saki, Nomura Kenji, Kono Masashi, Omoto Shunsuke, Takenaka Mamoru, Hagiwara Satoru, Kashida Hiroshi, Kudo Masatoshi

机构信息

Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, Japan.

Department of Molecular-Targeting Prevention, Kyoto Prefectural University of Medicine, Japan.

出版信息

Intern Med. 2024 Apr 15;63(8):1075-1079. doi: 10.2169/internalmedicine.2050-23. Epub 2023 Aug 9.

DOI:10.2169/internalmedicine.2050-23

PMID:37558482

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11081906/

Abstract

Familial adenomatous polyposis (FAP) is caused by pathogenic variants of the APC gene on the long arm of chromosome 5. An analysis showed an association between germline APC gene variants and clinical signs of FAP; however, attenuated FAP has also been reported in cases with pathogenic variants. In contrast, a phenotype of FAP with no APC germline pathogenic variant and with few signs has been reported. We herein report a 16-year-old girl in whom the presence of multiple large bowel cancers from a young age and several small bowel cancers reflected a carcinogenic tendency higher than that typical for FAP.

摘要

家族性腺瘤性息肉病（FAP）由5号染色体长臂上APC基因的致病变异引起。一项分析显示种系APC基因变异与FAP的临床体征之间存在关联；然而，也有报道称致病变异的病例中存在attenuated FAP（衰减型家族性腺瘤性息肉病）。相比之下，也有报道称存在一种无APC种系致病变异且体征较少的FAP表型。我们在此报告一名16岁女孩，她从年轻时就患有多处大肠癌和几处小肠癌，其致癌倾向高于FAP的典型情况。