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

被引:4
作者
Nelson, Alexander T. [1 ,2 ,3 ,4 ]
Vasta, Lauren M. [5 ]
Watson, Dave [6 ]
Kim, Jung [5 ]
Harris, Anne K. [2 ,3 ,4 ]
Best, Ana F. [7 ]
Harney, Laura A. [8 ]
Carr, Ann G. [8 ]
Frederickson, Nicole [2 ,3 ,4 ]
Dehner, Louis P. [9 ]
Kratz, Christian P. [10 ]
Hagedorn, Kelly N. [11 ]
Mize, William A. [11 ]
Ling, Alexander [12 ]
Messinger, Yoav H. [2 ,3 ,4 ]
Hill, D. Ashley [9 ,13 ]
Schultz, Kris Ann P. [2 ,3 ,4 ]
Stewart, Douglas R. [5 ]
机构
[1] Univ Minnesota, Med Sch, Minneapolis, MN USA
[2] Childrens Minnesota, Int Pleuropulomary Blastoma Registry DICER1, Minneapolis, MN USA
[3] Childrens Minnesota, Int Ovarian & Testicular Stromal Tumor Registry, Minneapolis, MN USA
[4] Childrens Minnesota, Canc & Blood Disorders, Minneapolis, MN 55404 USA
[5] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Rockville, MD USA
[6] Childrens Minnesota, Res Inst, Minneapolis, MN USA
[7] NCI, Biometr Res Program, Div Canc Treatment & Diag, NIH, Bethesda, MD USA
[8] Westat Corp, Rockville, MD USA
[9] Washington Univ, Dept Pathol & Immunol, Lauren V Ackerman Lab Surg Pathol, Sch Med, St Louis, MO USA
[10] Hannover Med Sch, Pediat Hematol & Oncol, Hannover, Niedersachsen, Germany
[11] Childrens Minnesota, Dept Radiol, Minneapolis, MN USA
[12] NIH, Dept Radiol, Clin Ctr, Bethesda, MD USA
[13] ResourcePath LLC, Sterling, VA USA
关键词
Imaging/CT MRI etc; Lung Cancer; Paediatric Lung Disaese; Rare lung diseases; MANIFESTATIONS;
D O I
10.1136/thorax-2023-221024
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
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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收藏
页码:644 / 651
页数:8
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