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Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation
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 ge...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858281/ https://www.ncbi.nlm.nih.gov/pubmed/36673012 http://dx.doi.org/10.3390/diagnostics13020198 |
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author | Choi, Yong Jun Park, Chul Hwan Park, Hye Jung Shin, Jae Min Kim, Tae Hoon Lee, Kyung-A Moon, Duk Hwan Lee, Sungsoo Lee, Sang Eun Byun, Min Kwang |
author_facet | Choi, Yong Jun Park, Chul Hwan Park, Hye Jung Shin, Jae Min Kim, Tae Hoon Lee, Kyung-A Moon, Duk Hwan Lee, Sungsoo Lee, Sang Eun Byun, Min Kwang |
author_sort | Choi, Yong Jun |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9858281 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-98582812023-01-21 Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation Choi, Yong Jun Park, Chul Hwan Park, Hye Jung Shin, Jae Min Kim, Tae Hoon Lee, Kyung-A Moon, Duk Hwan Lee, Sungsoo Lee, Sang Eun Byun, Min Kwang Diagnostics (Basel) Article 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. MDPI 2023-01-05 /pmc/articles/PMC9858281/ /pubmed/36673012 http://dx.doi.org/10.3390/diagnostics13020198 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Choi, Yong Jun Park, Chul Hwan Park, Hye Jung Shin, Jae Min Kim, Tae Hoon Lee, Kyung-A Moon, Duk Hwan Lee, Sungsoo Lee, Sang Eun Byun, Min Kwang Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation |
title | Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation |
title_full | Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation |
title_fullStr | Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation |
title_full_unstemmed | Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation |
title_short | Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation |
title_sort | characteristic chest computed tomography findings for birt–hogg–dube syndrome indicating requirement for genetic evaluation |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858281/ https://www.ncbi.nlm.nih.gov/pubmed/36673012 http://dx.doi.org/10.3390/diagnostics13020198 |
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