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

AI Article Synopsis

  • Researchers aimed to improve the identification of Birt−Hogg−Dube (BHD) syndrome by analyzing chest CT findings, as traditional criteria were found to be weak predictors.
  • The study involved 21 patients with lung cysts and confirmed 10 cases of BHD, showing a significant difference in cyst size between BHD patients (average 4.1 cm) and non-BHD patients (average 1.6 cm).
  • Key indicators for recommending genetic testing for FLCN mutations include cysts larger than 2.1 cm in diameter and notable variations in their size, particularly in the lower parts of both lungs.

Article Abstract

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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858281PMC
http://dx.doi.org/10.3390/diagnostics13020198DOI Listing

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