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Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation

 Yong Jun Choi  ;  Chul Hwan Park  ;  Hye Jung Park  ;  Jae Min Shin  ;  Tae Hoon Kim  ;  Kyung-A Lee  ;  Duk Hwan Moon  ;  Sungsoo Lee  ;  Sang Eun Lee  ;  Min Kwang Byun 
 DIAGNOSTICS, Vol.13(2) : 198, 2023-01 
Journal Title
Issue Date
Birt–Hogg–Dube syndrome ; FLCN mutation ; chest computed tomography ; cystic lung disease
Background: Chest computed tomography (CT) findings are important for identifying Birt−Hogg−Dube (BHD) syndrome. However, the predictive power of classical criteria for chest CT findings is weak. Here, we aimed to identify more specific chest CT findings necessitating genetic examination for FLCN gene mutations.

Methods: From June 2016 to December 2017, we prospectively enrolled 21 patients with multiple bilateral and basally located lung cysts on chest CT with no other apparent cause, including cases with and without spontaneous primary pneumothorax. All enrolled patients underwent FLCN mutation testing for diagnosis confirmation.

Results: BHD was diagnosed in 10 of 21 enrolled patients (47.6%). There were no differences in clinical features between the BHD and non-BHD groups. Maximal cyst diameter was significantly greater in the BHD group (mean ± standard deviation; 4.1 ± 1.1 cm) than in the non-BHD group (1.6 ± 0.9 cm; p < 0.001). Diversity in cyst size was observed in 100.0% of BHD cases and 18.2% of non-BHD cases (p = 0.001). Morphological diversity was observed in 100.0% of BHD cases and 54.6% of non-BHD cases (p = 0.054). Areas under the receiver operating characteristic curves for predicting FLCN gene mutations were 0.955 and 0.909 for maximal cyst diameter and diversity in size, respectively. The optimal cut-off value for maximal diameter FLCN mutations prediction was 2.1 cm (sensitivity: 99%; specificity: 82%).

Conclusions: Reliable chest CT features suggesting the need for FLCN gene mutations screening include variations in cyst size and the presence of cysts > 2.1 cm in diameter, predominantly occurring in the bilateral basal lungs.
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1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Thoracic and Cardiovascular Surgery (흉부외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Tae Hoon(김태훈) ORCID logo https://orcid.org/0000-0003-3598-2529
Moon, Duk Hwan(문덕환)
Park, Chul Hwan(박철환) ORCID logo https://orcid.org/0000-0002-0004-9475
Park, Hye Jung(박혜정) ORCID logo https://orcid.org/0000-0002-1862-1003
Byun, Min Kwang(변민광) ORCID logo https://orcid.org/0000-0003-1525-1745
Shin, Jae Min(신재민)
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Sang Eun(이상은) ORCID logo https://orcid.org/0000-0003-4720-9955
Lee, Sung Soo(이성수) ORCID logo https://orcid.org/0000-0001-8998-9510
Choi, Yong Jun(최용준) ORCID logo https://orcid.org/0000-0002-6114-2059
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