中国人群经典型家族性腺瘤性息肉病的临床、病理和分子特征  

Clinicopathological and molecular characteristics of classical familial adenomatous polyposis in the Chinese population

作　　者：卢斌 张天琪 徐烨 刘方奇 Bin Lu;Tianqi Zhang;Ye Xu;Fangqi Liu(Department of General Surgery,Shanghai Armed Police Corps Hospital,Shanghai 201103,China;Department of Colorectal Surgery,Fudan University Shanghai Cancer Center,Shanghai 200032,China)

机构地区：[1]武警上海市总队医院外二科,上海201103 [2]复旦大学附属肿瘤医院大肠外科,上海200032

出　　处：《中华结直肠疾病电子杂志》2024年第1期38-44,共7页Chinese Journal of Colorectal Diseases(Electronic Edition)

基　　金：上海市结直肠癌专病队列数据库与生物样本全息库的建设与应用(No.SKXZ2028)。

摘　　要：目的分析中国人群经典型家族性腺瘤性息肉病(FAP)患者的临床病理特征以及基因型和表型的关系。方法纳入2006年1月至2022年12月复旦大学附属肿瘤医院诊治的69例经典型FAP患者为研究对象,通过二代测序技术行基因检测,分析患者的临床病理特征、基因型与临床表型的关系。结果在69例经典型FAP患者中,40例(58%)患者有明确家族史,癌变中位年龄34(28,42)岁;有49例(71%)患者检出APC致病性胚系突变,20例(29%)则未检出,无APC突变的患者平均年龄可能更大(39.2±13.3 vs.34.1±9.9,t=-1.723,P=0.089),合并肠外病变的比例可能较低(30%vs.51%,χ^(2)=2.536,P=0.111);31例患者合并结肠外病变,其中胃和十二指肠息肉(20例)最常见,好发于胃底胃体;其次是硬纤维瘤(13例),多在术后2年内发病,以育龄期女性为主,好发于腹腔和腹壁;还发现甲状腺癌(3例)、子宫肌瘤(2例)和肾上腺肿瘤(1例);p.E1309Dfs突变最常见,与胃十二指肠息肉、硬纤维瘤、子宫肌瘤和肾上腺腺瘤有关;另发现p.Y935^(*)突变的患者可同时合并胃十二指肠息肉、硬纤维瘤和甲状腺癌。结论中国人群经典型FAP患者中,无家族史者较多,无APC突变者合并肠外病变的比例可能较低,探索APC突变和表型的关系有助于该疾病的诊治。Objective To analyze the clinicopathological characteristics,and the genotype-phenotype relationships of classical familial adenomatous polyposis(FAP)based on the Chinese population.Methods Sixty-nine patients diagnosed with classical FAP in Fudan University Shanghai Cancer Center from January 2006 to December 2022 were included and their clinicopathological characteristics,genotype-phenotype relationships were analyzed after genetic test.Results Among these 69 patients,forty patients(58%)had definite family histories,medianage of canceration is 34(28,42)years old.Compared with the patients(49/69,71%)with APC germline mutations,patients without APC germline mutations might show older ages(39.2±13.3 vs.34.1±9.9,t=-1.723,P=0.089)and lower rate in extra-colonic lesions(30%vs.51%,χ^(2)=2.536,P=0.111).As for the extra-colonic lesions detected in 31 patients,gastroduodenal polyps(20 cases)were the most common lesions and mainly located in the fundus and body of stomach;subsequently,desmoids(13 cases)were often found among child-bearing women during 2 years after surgery and mainly located in the abdominal cavity and wall.Additionally,thyroid cancer(3 cases),hysteromyoma(2 cases),and adrenal tumors(1 case)were also found.Furthermore,p.E1309Dfs,the most common variant,was associated with gastric and duodenal polyps,desmoid,adrenal adenoma;patient harboring p.Y935^(*)might be related with the manifestations of gastroduodenal polyps,desmoid,and thyroid cancer.Conclusion There are more patients with de novo classical FAP in the Chinese population,and patients without APC mutations may have a lower rate of extra-colonic lesions.Relationships of genotype and phenotype are helpful for the treatment of FAP.

关 键 词：家族性腺瘤性息肉病 胚系突变 APC基因 基因型-表型 

分 类 号：R735.34[医药卫生—肿瘤]