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
{"title":"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。","authors":"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","doi":"10.1136/thorax-2023-221024","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Pleuropulmonary blastoma (PPB), the hallmark tumour associated with <i>DICER1</i>-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 <i>DICER1</i> pathogenic/likely pathogenic (P/LP) variants.</p><p><strong>Methods: </strong>Individuals were enrolled in the National Cancer Institute Natural History of <i>DICER1</i> Syndrome study, the International PPB/<i>DICER1</i> Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Individuals with a germline <i>DICER1</i> P/LP variant with first chest CT at 12 years of age or older were selected for this analysis.</p><p><strong>Results: </strong>In the combined databases, 110 individuals with a germline <i>DICER1</i> 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.</p><p><strong>Conclusion: </strong>Lung cysts are common in adolescents and adults with germline <i>DICER1</i> variation. Further study is needed to understand the mechanism of non-progression or regression of lung cysts in childhood to guide judicious intervention.</p>","PeriodicalId":23284,"journal":{"name":"Thorax","volume":null,"pages":null},"PeriodicalIF":9.0000,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11179973/pdf/","citationCount":"0","resultStr":"{\"title\":\"Prevalence of lung cysts in adolescents and adults with a germline <i>DICER1</i> pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/<i>DICER1</i> Registry.\",\"authors\":\"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\",\"doi\":\"10.1136/thorax-2023-221024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Pleuropulmonary blastoma (PPB), the hallmark tumour associated with <i>DICER1</i>-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 <i>DICER1</i> pathogenic/likely pathogenic (P/LP) variants.</p><p><strong>Methods: </strong>Individuals were enrolled in the National Cancer Institute Natural History of <i>DICER1</i> Syndrome study, the International PPB/<i>DICER1</i> Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Individuals with a germline <i>DICER1</i> P/LP variant with first chest CT at 12 years of age or older were selected for this analysis.</p><p><strong>Results: </strong>In the combined databases, 110 individuals with a germline <i>DICER1</i> 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.</p><p><strong>Conclusion: </strong>Lung cysts are common in adolescents and adults with germline <i>DICER1</i> variation. Further study is needed to understand the mechanism of non-progression or regression of lung cysts in childhood to guide judicious intervention.</p>\",\"PeriodicalId\":23284,\"journal\":{\"name\":\"Thorax\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":9.0000,\"publicationDate\":\"2024-06-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11179973/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Thorax\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1136/thorax-2023-221024\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Thorax","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/thorax-2023-221024","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
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.
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.