带有种系 DICER1 致病性/可能致病性变异的青少年和成人肺囊肿患病率:美国国立卫生研究院和国际胸膜肺大疱瘤/DICER1 登记处的报告。

IF 9 1区 医学 Q1 RESPIRATORY SYSTEM Thorax Pub Date : 2024-06-14 DOI:10.1136/thorax-2023-221024
Alexander T Nelson, Lauren M Vasta, Dave Watson, Jung Kim, Anne K Harris, Ana F Best, Laura A Harney, Ann G Carr, Nicole Frederickson, Louis P Dehner, Christian P Kratz, Kelly N Hagedorn, William A Mize, Alexander Ling, Yoav H Messinger, D Ashley Hill, Kris Ann P Schultz, Douglas R Stewart
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引用次数: 0

摘要

背景:胸膜肺泡瘤(PPB)是与 DICER1 相关肿瘤易感性有关的标志性肿瘤,其特征是与年龄有关,从囊性病变(I 型)发展为具有囊性和实性混合特征的高级别肉瘤(II 型)或纯实性病变(III 型)。并非所有的囊性 PPB 都会发展;Ir 型(退行性)假定代表退行性或未发展的 I 型 PPB,是一种充满空气的囊性病变,缺乏原始肉瘤成分。本研究旨在评估通过 CT 扫描检测到的带有 DICER1 致病性/可能致病性(P/LP)种系变异的青少年和成人非进展性肺囊肿的患病率:美国国立癌症研究所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都登记了患者。本分析选取了12岁或12岁以上首次接受胸部CT检查的DICER1 P/LP种系变异患者:结果:在合并的数据库中,确定了 110 名在 12 岁或 12 岁以后首次接受胸部 CT 检查的种系 DICER1 P/LP 变异个体。38%的患者(42/110)发现了肺部囊性病变,共检测出 72 例囊性病变。肺囊肿患者与无肺囊肿患者在人口统计学上无差异。5例囊肿被切除,其中4例经中央复查为Ir型PPB:结论:肺囊肿常见于有 DICER1 基因变异的青少年和成人。需要进一步研究以了解儿童肺囊肿不进展或消退的机制,从而指导进行明智的干预。
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Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/DICER1 Registry.

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.

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来源期刊
Thorax
Thorax 医学-呼吸系统
CiteScore
16.10
自引率
2.00%
发文量
197
审稿时长
1 months
期刊介绍: Thorax stands as one of the premier respiratory medicine journals globally, featuring clinical and experimental research articles spanning respiratory medicine, pediatrics, immunology, pharmacology, pathology, and surgery. The journal's mission is to publish noteworthy advancements in scientific understanding that are poised to influence clinical practice significantly. This encompasses articles delving into basic and translational mechanisms applicable to clinical material, covering areas such as cell and molecular biology, genetics, epidemiology, and immunology.
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