METHODS: Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN/NASPGHAN polyposis working group.
RESULTS: A total of 124 children with JPS were included: 69 (56%) DCV-negative and 55 (44%) DCV-positive (53% SMAD4 and 47% BMPR1A) with a median (interquartile range) follow-up of 4 (2.8-6.4) years. DCV-positive children were diagnosed at an older age compared to DCV-negative children [12 (8-15.7) years vs. 5 (4-7) years, respectively, p < 0.001], had a higher frequency of family history of polyposis syndromes (50.9% vs. 1.4%, p < 0.001), experienced a greater frequency of extraintestinal manifestations (27.3% vs. 5.8%, p < 0.001), and underwent more gastrointestinal surgeries (16.4% vs. 1.4%, p = 0.002). The incidence rate ratio for the development of new colonic polyps was 6.15 (95% confidence interval 3.93-9.63, p < 0.001) in the DCV-positive group compared to the DCV-negative group, with an average of 12.2 versus 2 new polyps for every year of follow-up. There was no difference in the burden of polyps between patients with SMAD4 and BMPR1A mutations.
CONCLUSIONS: This largest international cohort of pediatric JPS revealed that DCV-positive and DCV-negative children exhibit distinct clinical phenotype. These findings suggest a potential need of differentiated surveillance strategies based upon mutation status.
方法:人口统计学,临床,遗传,JPS患儿的内镜数据来自ESPHGAN/NASPGHAN息肉病工作组的8个国际中心.
结果:共纳入124例JPS患儿:69例(56%)DCV阴性和55例(44%)DCV阳性(53%SMAD4和47%BMPR1A),中位(四分位距[IQR])随访4年(2.8-6.4)。与DCV阴性儿童相比,DCV阳性儿童被诊断为年龄较大[12(8-15.7)岁与5(4-7)年,分别,p<0.001],息肉综合征家族史的频率较高(50.9%vs.1.4%,p<0.001),经历了更高的肠外表现频率(27.3%vs.5.8%,p<0.001),并接受了更多的胃肠手术(16.4%vs.1.4%,p=0.002)。与DCV阴性组相比,DCV阳性组发生新的结肠息肉的发生率为6.15(95%置信区间3.93-9.63,p<0.001)。每年随访平均12.2例,而新息肉为2例。SMAD4和BMPR1A突变患者的息肉负担没有差异。
结论:这项最大的国际儿科JPS队列研究显示,DCV阳性和DCV阴性儿童表现出不同的临床表型。这些发现表明,可能需要基于突变状态的差异化监测策略。