Kobayashi Takahiko, Ozasa Mariko, Miyashita Kencho, Saga Akiyoshi, Miwa Kimiaki, Saito Makoto, Morioka Masanobu, Takeuchi Motoya, Takenouchi Nobuo, Yabiku Takashi, Kanno Hiromi, Yuzawa Sayaka, Tanino Mishie, Tanaka Shinya, Kawakami Hiroshi, Asaka Masahiro, Sakamoto Naoya
Department of Gastroenterology, Hokkaido University, Graduate School of Medicine, Japan.
Intern Med. 2013;52(18):2051-6. doi: 10.2169/internalmedicine.52.9512.
Solid-pseudopapillary neoplasms (SPN) are rare pancreatic tumors. The etiology of SPN involves mutations in the gene that encodes β-catenin (CTNNB1). We herein report the case of a 23-year-old woman with a large SPN with proliferating tumor cells that displayed both solid and pseudo-papillary patterns. The simultaneous nuclear accumulation and loss of membrane localization of β-catenin and E-cadherin was specifically observed in the tumor cells. Further, the tumor cells were shown to harbor a missense mutation in exon 3 of CTNNB1. We also present a review of the literature describing the clustering of CTNNB1 mutations in patients with SPN.
实性假乳头状肿瘤(SPN)是一种罕见的胰腺肿瘤。SPN的病因涉及编码β-连环蛋白(CTNNB1)的基因突变。我们在此报告一例23岁女性患者,其患有一个具有增殖性肿瘤细胞的大SPN,肿瘤细胞呈现实性和假乳头状两种模式。在肿瘤细胞中特异性观察到β-连环蛋白和E-钙黏蛋白的核内积聚及膜定位缺失。此外,肿瘤细胞在CTNNB1基因第3外显子中存在一个错义突变。我们还对描述SPN患者中CTNNB1突变聚集情况的文献进行了综述。