Pediatric Gastroenterology, Nutrition, and Cystic Fibrosis Department Clinical Epidemiology, Assistance Publique-Hôpitaux de Paris, Université Paris 7, Hôpital Robert Debré, France.
J Pediatr Gastroenterol Nutr. 2011 Sep;53(3):296-302. doi: 10.1097/MPG.0b013e3182198f4d.
To retrospectively assess, in a pediatric multicenter cohort, guidelines for the management of familial adenomatous polyposis (FAP).
Ten centers from the French-speaking Pediatric Gastroenterology Hepatology and Nutrition Group provided follow-up data on patients up to 18 years of age. Clinical records, genetic test results, endoscopy with histopathology examination, and therapeutic modalities were reviewed.
A total of 70 children from 47 families were included. When initial consultation resulted from a surveillance program because of an affected family member, 12 of 59 children were already symptomatic. Among 11 patients whose initial consultation was based only on symptoms, families were unaware at the time of a familial FAP history for 7 children, whereas only 4 cases were sporadic. A panel of 27 different pathogenic adenomatous polyposis coli (APC) germ-line mutations and large genomic deletions were identified in 43 families. Extracolonic manifestations were found in half of the patients. As part of the standard practice for initial screening, the entire cohort underwent colonoscopy, which revealed adenoma above an intact rectosigmoid in 8 cases. Prophylactic colectomy was performed in 42 cases; high-grade dysplastic adenoma and 1 invasive carcinoma were detected in 6 children. For timing of surgery, indications were in accordance with recent international guidelines.
Defining optimal screening and therapeutic modalities in pediatric FAP cohorts is a challenge. Specific advice for genetic screening, endoscopy surveillance, and type of surgery based on recent guidelines is recommended.
回顾性评估法语儿科胃肠病学、肝病学和营养学组的多中心儿科队列中家族性腺瘤性息肉病（FAP）的管理指南。
10 个中心提供了年龄在 18 岁以下患者的随访数据。回顾了临床记录、基因检测结果、内镜检查和组织病理学检查以及治疗方式。
共纳入 47 个家系的 70 名儿童。当因家庭成员患病而进行监测计划的初始咨询时，59 名儿童中有 12 名已经出现症状。在 11 名仅因症状就诊的患者中，7 名儿童的家族中当时并不知道有家族性 FAP 病史，而只有 4 例是散发性的。在 43 个家系中鉴定出了 27 种不同的腺瘤性结肠息肉病（APC）胚系突变和大片段基因缺失。半数患者存在结肠外表现。作为初始筛查的标准实践，整个队列均进行了结肠镜检查，其中 8 例在完整的直肠乙状结肠上发现了腺瘤。42 例患者进行了预防性结肠切除术；6 例患儿中发现了高级别异型增生性腺瘤和 1 例浸润性癌。手术时机的指征与国际最新指南一致。
在儿科 FAP 队列中确定最佳筛查和治疗方式具有挑战性。建议根据最新指南，针对遗传筛查、内镜监测和手术类型提供具体建议。
