Tanabe Hiroki, Ijiri Masami, Takahashi Kenji, Sasagawa Honoka, Kamanaka Tomomi, Kuroda Shohei, Sato Hiroki, Sarashina Takeo, Mizukami Yusuke, Makita Yoshio, Okumura Toshikatsu
Oncology Center, Asahikawa Medical University Hospital, Asahikawa, Japan.
Genetic Oncology Department, Asahikawa Medical University Hospital, Asahikawa, Japan.
Hum Genome Var. 2024 Mar 29;11(1):13. doi: 10.1038/s41439-024-00270-3.
A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. The patient and her son exhibited mild intellectual disability without developmental delay. This case highlights the need for further exploration of the characteristics associated with whole APC deletions. aCGH is a valuable tool for studying FAP and provides a detailed analysis of large deletions.
一名被诊断为晚期结肠癌并伴有肝转移的年轻患者，通过全面的基因组分析发现患有家族性腺瘤性息肉病（FAP）。全基因组阵列比较基因组杂交（aCGH）显示5号染色体q22.1 - 22.2区域存在胚系缺失，该区域包含整个APC基因。该患者及其儿子表现出轻度智力残疾，但无发育迟缓。此病例凸显了进一步探索与整个APC基因缺失相关特征的必要性。aCGH是研究FAP的一种有价值的工具，可对大片段缺失进行详细分析。
