Savelyeva Т A, Ponomarenko А A, Shelygin Y A, Kuzminov А M, Vyshegorodtsev D V, Loginova А N, Pikunov D Y, Goncharova Е P, Likutov А A, Mainovskaya О A, Tsukanov А S
Ryzikh State Scientific Center for Coloproctology.
Ter Arkh. 2023 Mar 30;95(2):145-151. doi: 10.26442/00403660.2023.02.202059.
Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the growth of hamartomatous polyps in the gastrointestinal tract, perioral pigmentation and an increased risk of malignant neoplasms. The syndrome is caused by a pathogenic variant in the gene.
To assess the clinical picture and treatment of Russian patients with PJS.
A retrospective analysis of 30 patients from 25 families with an established diagnosis of PJS who were in the Ryzikh State Scientific Center for Coloproctology from 2011 to 2021 was carried out. All patients underwent instrumental examination, including esophagogastroduodenoscopy, colonoscopy, X-ray examination of the small intestine/CT-enterography, in the absence of invaginates - video capsule endoscopy, as well as molecular genetic examination for the presence of pathogenic variants in the gene. All removed polyps were subjected to the histological examination.
The analysis of the clinical picture allowed us to establish the following data: the first complaints in patients were noted in childhood and adolescence, while the median age was 11 [7; 19] (0.5-24) years; pathogenic variants in the gene were identified in 26 (87%) cases, among which 10 were described for the first time; during the initial examination, polyps in the small intestine were detected in all 30 (100%) patients, in the stomach - in 23/30 (77%) patients, and in the colon - in 21/30 (70%); with an age, an increase in the number of polyps in all parts of the gastrointestinal tract was noted; before the diagnosis operations were performed urgently for intestinal obstruction; after the diagnosis of PJS, when polyps were detected in the gastrointestinal tract, endoscopic polypectomies were performed; if endoscopic removal of hamartomatous polyps was impossible, patients were operated as planned; malignant diseases of the predominantly reproductive system were detected in 8/30 (27%) patients. The median age of cancer detection was 52 [31; 52] (17-59) years.
Russian patients with PJS have population-specific features in the clinical picture of the course of the disease, which dictates the need to develop their own recommendations for monitoring and treatment of such patients.
黑斑息肉综合征（PJS）是一种罕见的遗传性综合征，其特征为胃肠道错构瘤性息肉生长、口周色素沉着以及恶性肿瘤风险增加。该综合征由 基因的致病性变异引起。
评估俄罗斯 PJS 患者的临床表现及治疗情况。
对 2011 年至 2021 年在里齐赫国家结直肠科学中心确诊为 PJS 的 25 个家庭中的 30 例患者进行回顾性分析。所有患者均接受了器械检查，包括食管胃十二指肠镜检查、结肠镜检查、小肠 X 线检查/CT 小肠造影，在无肠套叠的情况下——视频胶囊内镜检查，以及检测 基因致病性变异的分子遗传学检查。所有切除的息肉均进行了组织学检查。
对临床表现的分析使我们得出以下数据：患者的首发症状出现在儿童期和青春期，中位年龄为 11 [7; 19]（0.5 - 24）岁；在 26 例（87%）病例中发现了 基因的致病性变异，其中 10 种是首次描述；在初次检查时，所有 30 例（100%）患者的小肠中均检测到息肉，23/30（77%）例患者的胃中检测到息肉，21/30（70%）例患者的结肠中检测到息肉；随着年龄增长，胃肠道各部位的息肉数量均有所增加；在诊断前，因肠梗阻紧急进行了手术；在诊断为 PJS 后，当在胃肠道中检测到息肉时，进行了内镜下息肉切除术；如果无法通过内镜切除错构瘤性息肉，则按计划对患者进行手术；8/（30%）例患者检测到主要为生殖系统的恶性疾病。癌症检测的中位年龄为 52 [31; 52]（17 - 59）岁。
俄罗斯 PJS 患者在疾病病程的临床表现方面具有特定人群特征，这决定了需要制定针对此类患者监测和治疗的自身建议。
