家族性腺瘤性息肉病合并林奇样综合征一例  

A case of familial adenomatous polyposis in an adult male with Lynch-like syndrome

作　　者：张天琪 徐烨[1] Zhang Tianqi;Xu Ye(Department of Colorectal Surgery,Fudan University Shanghai Cancer Center,Shanghai200032,China)

机构地区：[1]复旦大学附属肿瘤医院大肠外1科,上海200032

出　　处：《中华胃肠外科杂志》2024年第11期1168-1171,共4页Chinese Journal of Gastrointestinal Surgery

基　　金：上海市抗癌协会“翱翔计划”项目(SHAX-LC-202333)。

摘　　要：家族性腺瘤性息肉病和林奇综合征是两种常见的遗传性结直肠癌,分别代表了染色体不稳定和微卫星不稳定两种不同的结直肠癌发生分子通路,通常被认为是互斥的机制。本文报道一例罕见家族性腺瘤性息肉病合并林奇样综合征的病例。患者为46岁男性,结肠镜示结肠数百枚广基息肉,直肠、乙状结肠、横结肠见不规则肿块;基因检测提示其携带APC(c.423-1G>A)致病性胚系突变及MLH1(p.R725H)、PTCH1(p.S438N)意义未明变异,并合并AKT1、PIK3CA和KRAS体细胞突变、高度微卫星不稳定和肿瘤突变负荷高等肿瘤特点。该患者行腹腔镜下全结直肠切除术+腹会阴联合切除术+回肠造口术,后接受奥沙利铂联合卡培他滨方案化疗。随访至2024年4月,目前整体状况尚可,肿瘤标志物及影像学检查均未见异常。Familial adenomatous polyposis and Lynch syndrome represent two different molecular pathways of colorectal carcinogenesis that are commonly considered mutually exclusive:chromosomal instability and microsatellite instability.Here,we report a rare case of familial adenomatous polyposis in an adult male with Lynch-like syndrome.A 46-year-old male patient was found to have hundreds of adenomatous polyps throughout the whole intestine,and irregular masses in rectum,sigmoid and transverse colon.Genetic test showed that the patient carried pathogenic germline APC(c.423-1G>A)variant and two variants of uncertain significance in MLH1(p.R725H)and PTCH1(p.S438N),combined with tumor characteristics of somatic AKT1/PIK3CA/KRAS co-mutations,microsatellite instability and high tumor mutation burden.The patient underwent laparoscopic total colectomy with abdominoperineal resection and end ileostomy,then received 4 cycles adjuvant chemotherapy of oxaliplatin with capecitabine.This patient was followed up to April 2024 and performed well without abnormalities in serum cancer biomarkers and radiological examinations.

关 键 词：家族性腺瘤性息肉病 林奇样综合征 遗传性结直肠癌 染色体不稳定 微卫星不稳定 

分 类 号：R735.34[医药卫生—肿瘤]