幼年性息肉病的临床病理学特征及研究进展

Clinical pathologic characteristics and research progress of juvenile polyposis syndrome

幼年性息肉病(JPS)是一种常染色体显性遗传的错构瘤性息肉综合征,以胃肠道出现多发幼年性息肉为主要表现,以结直肠息肉多见。JPS患者存在极高的胃肠道肿瘤发生风险,多数为结直肠癌,尽早检出尤为重要。JPS患者的幼年性息肉随疾病进展而呈现多样性的病理组织学表现,甚至出现腺瘤或腺癌结构,基因检测有助于精准诊断。约60%的JPS患者存在SMAD4和BMPR1A基因的胚系突变,PTEN、ENG和FOCAD等基因改变在少数病例中也有发现。JPS的治疗一般采取息肉切除或脏器切除,近年来在药物治疗方面也有所进展。

Juvenile polyposis syndrome(JPS)is an autosomal dominant hamartomatous polyposis syndrome characterized by multiple juvenile polyps in the gastrointestinal tract,with colorectal polyps being more common.JPS patients have a high risk of developing gastrointestinal tumors,most of which are colorectal cancer,and early diagnosis is particularly important.Juvenile polyps in JPS patients exhibit diverse histological manifestations as the disease progresses,and even exhibit adenomas or adenocarcinoma.Genetic testing is helpful for accurate diagnosis of JPS patients.Approximatly 60%of JPS patients have germline mutations in the SMAD4 and BMPR1A genes,as well as genetic changes such as PTEN,ENG,and FOCAD in a few cases.The treatment of JPS generally involves polypectomy or organ resection,and new advances have also been made in drug treatment in recent years.