ImportancePediatric oncology patients are increasingly recognized as having an underlying cancer predisposition syndrome (CPS). Surveillance is often recommended to detect new tumors at their earliest and most curable stages. Data on the effectiveness and outcomes of surveillance for children with CPS are limited.ObjectiveTo evaluate the performance of surveillance across a wide spectrum of CPSs.Design, Setting, and ParticipantsThis cohort study reviewed surveillance outcomes for children and young adults from birth to age 23 years with a clinical and/or molecular CPS diagnosis from January 1, 2009, through September 31, 2021. Patients were monitored using standard surveillance regimens for their corresponding CPS at a specialty pediatric oncology center. Patients with hereditary retinoblastoma and bone marrow failure syndromes were excluded. Data were analyzed between August 1, 2021, and December 6, 2023.ExposureCancer predisposition syndrome.Main Outcomes and MeasuresOutcomes of surveillance were reviewed to evaluate the incidence, spectrum, and clinical course of newly detected tumors. Surveillance modalities were classified for accuracy and assessed for common strengths and weaknesses.ResultsA total of 274 children and young adults (mean age, 8 years [range, birth to 23 years]; 144 female [52.6%]) with 35 different CPSs were included, with a median follow-up of 3 years (range, 1 month to 12 years). During the study period, 35 asymptomatic tumors were detected in 27 patients through surveillance (9.9% of the cohort), while 5 symptomatic tumors were detected in 5 patients (1.8% of the cohort) outside of surveillance, 2 of whom also had tumors detected through surveillance. Ten of the 35 tumors (28.6%) were identified on first surveillance imaging. Malignant solid and brain tumors identified through surveillance were more often localized (20 of 24 [83.3%]) than similar tumors detected before CPS diagnosis (71 of 125 [56.8%]; P < .001). Of the 24 tumors identified through surveillance and surgically resected, 17 (70.8%) had completely negative margins. When analyzed across all imaging modalities, the sensitivity (96.4%), specificity (99.6%), positive predictive value (94.3%), and negative predictive value (99.6%) of surveillance were high, with few false-positive (6 [0.4%]) or false-negative (5 [0.3%]) findings.Conclusions and RelevanceThese findings suggest that standardized surveillance enables early detection of new tumors across a wide spectrum of CPSs, allowing for complete surgical resection and successful treatment in the majority of patients.

中文翻译：

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对有癌症倾向的儿童进行肿瘤监测


重要性越来越多的人认识到儿科肿瘤患者患有潜在的癌症易感综合症（CPS）。通常建议进行监测，以便在最早和最可治愈的阶段发现新肿瘤。关于 CPS 儿童监测的有效性和结果的数据有限。目的评估各种 CPS 的监测表现。设计、设置和参与者本队列研究回顾了从出生到 23 岁的儿童和年轻人的监测结果从2009年1月1日到2021年9月31日，具有临床和/或分子CPS诊断的患者。在专业儿科肿瘤中心，使用标准监测方案对患者相应的CPS进行监测。患有遗传性视网膜母细胞瘤和骨髓衰竭综合征的患者被排除在外。对2021年8月1日至2023年12月6日期间的数据进行分析。暴露癌症易感综合征。主要结果和措施回顾监测结果，以评估新发现肿瘤的发病率、谱系和临床过程。对监测方式进行了准确性分类，并评估了共同的优点和缺点。 结果 共有 274 名儿童和年轻人（平均年龄，8 岁[范围，出生至 23 岁]；144 名女性 [52.6%]），具有 35 种不同的 CPS ，中位随访时间为 3 年（范围：1 个月至 12 年）。研究期间，通过监测在 27 名患者（占队列的 9.9%）中检测到 35 个无症状肿瘤，而在监测之外的 5 名患者（占队列的 1.8%）中检测到 5 个有症状的肿瘤，其中 2 名患者也检测到肿瘤通过监视。 35 个肿瘤中有 10 个 (28.6%) 在第一次监测成像中被识别出来。 通过监测发现的恶性实体瘤和脑肿瘤比 CPS 诊断前检测到的类似肿瘤（125 例中的 71 例 [56.8%]；P < .001）更常局限于局部（24 例中的 20 例 [83.3%]）。在通过监测和手术切除的 24 个肿瘤中，17 个（70.8%）的边缘完全阴性。对所有成像方式进行分析时，监测的敏感性 (96.4%)、特异性 (99.6%)、阳性预测值 (94.3%) 和阴性预测值 (99.6%) 都很高，几乎没有假阳性 (6 [0.4 %]）或假阴性（5 [0.3%]）结果。结论和相关性这些结果表明，标准化监测能够早期发现各种 CPS 中的新肿瘤，从而可以对大多数患者进行完全手术切除和成功治疗。