{"title":"Li-Fraumeni综合征患者的早发性结直肠癌：病例系列和文献综述。","authors":"Kazuki Sekiguchi, Iori Motoo, Takayuki Ando, Akira Noguchi, Rei Fukuda, Keiko Nomura, Yurika Nakayama, Shinya Kajiura, Yuko Ueda, Yuno Goto, Seitarou Shimada, Yusuke Takashima, Saeko Takahashi, Haruka Fujinami, Ichiro Yasuda","doi":"10.2169/internalmedicine.4945-24","DOIUrl":null,"url":null,"abstract":"<p><p>Screening for colorectal cancer (CRC) in individuals with Li-Fraumeni syndrome (LFS) typically recommends initiating colonoscopy at 25 years old. We herein report a case of LFS with dual CRC and liver metastasis diagnosed before the recommended screening age. A 17-year-old boy with a history of sarcoma underwent colonoscopy, revealing 2 advanced CRCs: neuroendocrine carcinoma in the descending colon and adenocarcinoma in the rectum, each displaying distinct histological features. In addition, a TP53 missense mutation (p.His193Arg) was detected by a detailed genetic examination. LFS is associated with a heightened risk of rapid progression to invasive carcinomas due to TP53 variants. Therefore, earlier initiation of colonoscopy screening may be necessary for patients with LFS.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Early-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.\",\"authors\":\"Kazuki Sekiguchi, Iori Motoo, Takayuki Ando, Akira Noguchi, Rei Fukuda, Keiko Nomura, Yurika Nakayama, Shinya Kajiura, Yuko Ueda, Yuno Goto, Seitarou Shimada, Yusuke Takashima, Saeko Takahashi, Haruka Fujinami, Ichiro Yasuda\",\"doi\":\"10.2169/internalmedicine.4945-24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Screening for colorectal cancer (CRC) in individuals with Li-Fraumeni syndrome (LFS) typically recommends initiating colonoscopy at 25 years old. We herein report a case of LFS with dual CRC and liver metastasis diagnosed before the recommended screening age. A 17-year-old boy with a history of sarcoma underwent colonoscopy, revealing 2 advanced CRCs: neuroendocrine carcinoma in the descending colon and adenocarcinoma in the rectum, each displaying distinct histological features. In addition, a TP53 missense mutation (p.His193Arg) was detected by a detailed genetic examination. LFS is associated with a heightened risk of rapid progression to invasive carcinomas due to TP53 variants. Therefore, earlier initiation of colonoscopy screening may be necessary for patients with LFS.</p>\",\"PeriodicalId\":13719,\"journal\":{\"name\":\"Internal Medicine\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2025-04-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Internal Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2169/internalmedicine.4945-24\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Internal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2169/internalmedicine.4945-24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Early-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.
Screening for colorectal cancer (CRC) in individuals with Li-Fraumeni syndrome (LFS) typically recommends initiating colonoscopy at 25 years old. We herein report a case of LFS with dual CRC and liver metastasis diagnosed before the recommended screening age. A 17-year-old boy with a history of sarcoma underwent colonoscopy, revealing 2 advanced CRCs: neuroendocrine carcinoma in the descending colon and adenocarcinoma in the rectum, each displaying distinct histological features. In addition, a TP53 missense mutation (p.His193Arg) was detected by a detailed genetic examination. LFS is associated with a heightened risk of rapid progression to invasive carcinomas due to TP53 variants. Therefore, earlier initiation of colonoscopy screening may be necessary for patients with LFS.
期刊介绍：
Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine.
Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.
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