DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance, and appraisal of potential benefits and harms vary. In addition, there is increasing evidence that germline DICER1 pathogenic variants are associated with lower penetrance for cancer than previously assumed. To address these issues and to harmonize DICER1 syndrome surveillance programs within Europe, the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) and Clinical Guideline Working Group of the CanGene-CanVar project in the United Kingdom reviewed current surveillance strategies and evaluated additional relevant literature. Consensus was achieved for a new surveillance protocol and information leaflet that informs patients about potential symptoms of DICER1-associated tumors. The surveillance protocol comprises a minimum program and an extended version for consideration. The key recommendations of the minimum program are: annual clinical examination from birth to age 20 years, six-monthly chest X-ray and renal ultrasound from birth to age 6 years, and thyroid ultrasound every 3 years from age 8 to age 40 years. The surveillance program for consideration comprises additional surveillance procedures, and recommendations for DICER1 pathogenic variant carriers outside the ages of the surveillance interval. Patients have to be supported in choosing the surveillance program that best meets their needs. Prospective evaluation of the efficacy and patient perspectives of proposed surveillance recommendations is required to expand the evidence base for DICER1 surveillance protocols.

DICER1 综合征是一种罕见的遗传性疾病，易患多种肿瘤。为这种综合征制定监测方案具有挑战性，因为监测的临床疗效存在不确定性，并且对潜在益处和危害的评估各不相同。此外，越来越多的证据表明生殖系DICER1致病性变异与癌症的外显率比以前假设的要低。为了解决这些问题并协调欧洲范围内的 DICER1 综合征监测计划，国际儿科肿瘤学会 (SIOPE HGWG) 欧洲分会宿主基因组工作组和英国 CanGene-CanVar 项目临床指南工作组进行了审查目前的监测策略并评估了其他相关文献。就新的监测方案和信息传单达成共识，告知患者DICER1的潜在症状-相关的肿瘤。监视协议包括一个最低程序和一个扩展版本以供考虑。最低计划的主要建议是：从出生到 20 岁每年进行一次临床检查，从出生到 6 岁每 6 个月进行一次胸部 X 光检查和肾脏超声检查，从 8 岁到 40 岁每 3 年进行一次甲状腺超声检查。供考虑的监测计划包括额外的监测程序和针对DICER1的建议监测间隔年龄之外的致病性变异携带者。必须支持患者选择最能满足其需求的监测计划。需要对提议的监测建议的有效性和患者观点进行前瞻性评估，以扩大 DICER1 监测方案的证据基础。