Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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
_version_ 1784874060000264192
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
work_keys_str_mv AT choiyongjun characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT parkchulhwan characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT parkhyejung characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT shinjaemin characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT kimtaehoon characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT leekyunga characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT moondukhwan characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT leesungsoo characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT leesangeun characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation
AT byunminkwang characteristicchestcomputedtomographyfindingsforbirthoggdubesyndromeindicatingrequirementforgeneticevaluation