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.
CONCLUSIONS: 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.
方法:个人被纳入国家癌症研究所DICER1综合征自然史研究,国际PPB/DICER1注册和/或国际卵巢和睾丸间质肿瘤注册。选择12岁或以上的首次胸部CT具有种系DICER1P/LP变异的个体进行此分析。
结果:在组合数据库中,确定了110名具有种系DICER1P/LP变异的个体,他们在12岁或之后进行了首次胸部CT检查。38%(42/110)的肺部囊性病变被发现,总共检测到72个囊性病变。有肺囊肿的人和没有肺囊肿的人之间没有人口统计学差异。切除5个囊肿,其中4个为IrPPB型。
结论:肺囊肿常见于有种系DICER1变异的青少年和成人。需要进一步的研究来了解儿童期肺囊肿无进展或消退的机制,以指导明智的干预。