Background Pleuropulmonary blastoma (PPB), the hallmark tumour associated with DICER1 -related tumour predisposition, is characterised by an age-related progression from a cystic lesion (type I) to a high-grade sarcoma with mixed cystic and solid features (type II) or purely solid lesion (type III). Not all cystic PPBs progress; type Ir (regressed), hypothesised to represent regressed or non-progressed type I PPB, is an air-filled, cystic lesion lacking a primitive sarcomatous component. This study aims to evaluate the prevalence of non-progressed lung cysts detected by CT scan in adolescents and adults with germline DICER1 pathogenic/likely pathogenic (P/LP) variants. Methods Individuals were enrolled in the National Cancer Institute Natural History of DICER1 Syndrome study, the International PPB/ DICER1 Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Individuals with a germline DICER1 P/LP variant with first chest CT at 12 years of age or older were selected for this analysis. Results In the combined databases, 110 individuals with a germline DICER1 P/LP variant who underwent first chest CT at or after the age of 12 were identified. Cystic lung lesions were identified in 38% (42/110) with a total of 72 cystic lesions detected. No demographic differences were noted between those with lung cysts and those without lung cysts. Five cysts were resected with four centrally reviewed as type Ir PPB. Conclusion Lung cysts are common in adolescents and adults with germline DICER1 variation. Further study is needed to understand the mechanism of non-progression or regression of lung cysts in childhood to guide judicious intervention. Data are available upon reasonable request.

中文翻译：

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具有种系 DICER1 致病性/可能致病性变异的青少年和成人中肺囊肿的患病率：来自美国国立卫生研究院和国际胸膜肺母细胞瘤/DICER1 登记处的报告

背景 胸膜肺母细胞瘤 (PPB) 是与 DICER1 相关肿瘤易感性相关的标志性肿瘤，其特征是与年龄相关的从囊性病变（I 型）进展为具有混合囊性和实性特征的高级肉瘤（II 型）或纯粹的实性病变（III 型）。并非所有囊性 PPB 都会进展； Ir 型（消退），假设代表消退或非进展的 I 型 PPB，是一种充满空气的囊性病变，缺乏原始肉瘤成分。本研究旨在评估具有种系 DICER1 致病性/可能致病性 (P/LP) 变异的青少年和成人中通过 CT 扫描检测到的非进展性肺囊肿的患病率。方法 个体被纳入国家癌症研究所 DICER1 综合征自然史研究、国际 PPB/DICER1 登记处和/或国际卵巢和睾丸间质瘤登记处。选择具有种系 DICER1 P/LP 变异且在 12 岁或以上首次进行胸部 CT 的个体进行本分析。结果 在合并数据库中，确定了 110 名携带种系 DICER1 P/LP 变异的个体，他们在 12 岁或之后接受了第一次胸部 CT 扫描。 38% (42/110) 发现肺部囊性病变，总共检测到 72 个囊性病变。患有肺囊肿和不患有肺囊肿的人之间没有人口统计学差异。五个囊肿被切除，其中四个囊肿被集中审查为 Ir PPB 型。结论 肺囊肿在具有种系 DICER1 变异的青少年和成人中很常见。需要进一步研究来了解儿童期肺囊肿不进展或消退的机制，以指导明智的干预。数据可根据合理要求提供。