PDF(Pubmed)
Abstract：
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.
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.
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.
摘要：
背景：胸膜肺母细胞瘤（PPB），与DICER1相关的肿瘤易感性相关的标志性肿瘤，其特征是从囊性病变（I型）到具有囊性和实性混合特征（II型）或纯粹实性病变（III型）的高级别肉瘤的年龄相关进展。并非所有囊性PPBs均有进展；Ir型（消退），假设表示回归或未进展的I型PPB，是一个充满空气的，缺乏原始肉瘤成分的囊性病变。这项研究旨在评估通过CT扫描在青少年和成年人中发现的非进展性肺囊肿的患病率，这些性系DICER1致病性/可能致病性（P/LP）变异。
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。
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。
