Takao Akinari, Yamaguchi Tatsuro, Eguchi Hidetaka, Okazaki Yasushi, Ishikawa Hideki, Akagi Kiwamu, Ishida Hideyuki
Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
J Anus Rectum Colon. 2024 Oct 25;8(4):348-355. doi: 10.23922/jarc.2024-030. eCollection 2024.
Serrated polyposis syndrome (SPS) is a rare condition associated with an increased risk of colorectal cancer. However, the genetic basis of SPS in Japanese patients remains unclear. The present study therefore aimed to address this omission by identifying candidate causative genes of SPS in Japanese patients.
The present study performed next-generation sequencing using a multigene panel to identify the causative genes in SPS. Whenever a candidate gene was detected, whole exome sequencing of the tumor tissue was performed.
An analysis of 11 patients with SPS identified a germline pathogenic variant of (c.1543G>T/p.Gly515Ter) in a 47-year-old, female patient with transverse colon cancer with more than 50 serrated polyps. She had no history of smoking. None of the canonical, causative genes in common colorectal cancer, such as and , were detected in her lesion. Most of the somatic variants detected in the cancer were transition substitutions (C>T).
was identified as a candidate causative gene in SPS in a non-smoker with the disease. These findings will hopefully contribute to understanding the genetic basis of SPS.
锯齿状息肉病综合征（SPS）是一种与结直肠癌风险增加相关的罕见疾病。然而，日本患者中SPS的遗传基础仍不清楚。因此，本研究旨在通过鉴定日本患者中SPS的候选致病基因来解决这一遗漏问题。
本研究使用多基因panel进行二代测序以鉴定SPS中的致病基因。每当检测到候选基因时，就对肿瘤组织进行全外显子测序。
对11例SPS患者的分析在一名患有50多个锯齿状息肉的横结肠癌的47岁女性患者中鉴定出一种种系致病变体（c.1543G>T/p.Gly515Ter）。她没有吸烟史。在她的病变中未检测到常见结直肠癌中的任何典型致病基因，如 和 。在癌症中检测到的大多数体细胞变体是转换替代（C>T）。
在一名患有该疾病的非吸烟者中， 被鉴定为SPS的候选致病基因。这些发现有望有助于理解SPS的遗传基础。
