46例黑斑息肉综合征的诊治

目的：探讨黑斑息肉综合征(Peutz-Jeghers syndrome，PJS)的临床特点、病理特征、基因检测结果、诊断治疗及预后。方法：对2007—2017年收治的46例PJS患者的临床资料进行回顾性分析。 结果：46例患者均存在口唇黏膜黑斑及消化道多发息肉，黑斑多于5岁以内出现，14例有家族史。临床上表现为黑斑、腹痛、便血、贫血等。病理学检查可表现为错构瘤(20例)、腺瘤(18例)、炎性息肉(14例)及锯齿状息肉(10例)等。11例患者行遗传性结直肠癌易感基因(20个)检测，结果提示5例有丝/苏氨酸蛋白激酶(serine/threonine kinase 11，STK11)基因突变，其中3例STK11基因致病证据明确者均有肠套叠及外科手术史。治疗以内镜下微创为主，出现并发症及息肉过大时行内镜和腹腔镜联合或外科手术治疗。随访发现3例患者发生恶性肿瘤。结论：PJS以特殊部位的皮肤、黏膜黑斑和消化道多发息肉为特征。病理学表现以错构瘤及腺瘤多见。STK11基因致病证据明确者发生肠套叠及外科手术风险较大。PJS早期治疗以内镜下微创为主，因增加恶性肿瘤风险，容易复发，应密切随访。

Diagnosis and treatment for 46 cases of Peutz-Jeghers syndrome

Objective: To explore the clinical features, pathological features, gene test results, diagnosis,treatment and prognosis of Peutz-Jeghers syndrome(PJS).Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and2017.Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinalpolyposis. The pigmentation was first noticed often within 5 years old, and 14 cases had familyhistory. The clinical manifestations mainly included black spots, abdominal pain, hematochezia,and anemia. Histological examinations showed that 20 patients were classifi ed as hamartomatouspolyps,18 as adenomatous polyps, 14 as inflammatory polyps, and 10 as zigzag polyps. Elevenpatients sequenced a panel of 20 genes previously associated with colorectal cancer (CRC) bynext-generation sequencing, and the results showed 5 patients with gene mutations, and 3 of them with intussusception and surgical histories were found to have pathogenic germline mutationsin the STK11 gene. Endoscopic treatment was the main therapy, but endoscopy combined withlaparoscopy or surgical treatment was performed when complications occurred or the polyp wastoo large. Malignant tumors were found in 3 patients during follow-up.Conclusion: PJS is a hereditary disease which is characterized by spots of the skin or mucosa andgastrointestinal multiple polyps. The main pathological features are hamartoma and adenoma. Therisks for intussusception and surgical operation are found to be high in the patients with pathogenicgermline mutations in the STK11 gene. Endoscopic treatment is the main therapy. PJS patientsshould be followed up regularly due to the increasing risk for cancer and being easily to relapse.