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A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient

Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt–Hogg–Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC...

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Autores principales: Bandini, Erika, Zampiga, Valentina, Cangini, Ilaria, Ravegnani, Mila, Arcangeli, Valentina, Rossi, Tania, Mammi, Isabella, Schiavi, Francesca, Zovato, Stefania, Falcini, Fabio, Calistri, Daniele, Danesi, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419138/
https://www.ncbi.nlm.nih.gov/pubmed/37569793
http://dx.doi.org/10.3390/ijms241512418
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author Bandini, Erika
Zampiga, Valentina
Cangini, Ilaria
Ravegnani, Mila
Arcangeli, Valentina
Rossi, Tania
Mammi, Isabella
Schiavi, Francesca
Zovato, Stefania
Falcini, Fabio
Calistri, Daniele
Danesi, Rita
author_facet Bandini, Erika
Zampiga, Valentina
Cangini, Ilaria
Ravegnani, Mila
Arcangeli, Valentina
Rossi, Tania
Mammi, Isabella
Schiavi, Francesca
Zovato, Stefania
Falcini, Fabio
Calistri, Daniele
Danesi, Rita
author_sort Bandini, Erika
collection PubMed
description Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt–Hogg–Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt–Hogg–Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS). Here, we describe a novel FLCN variant observed in a subject manifesting disorders that were suspected to be related to BHDS and with a family history of multiple cancers.
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spelling pubmed-104191382023-08-12 A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient Bandini, Erika Zampiga, Valentina Cangini, Ilaria Ravegnani, Mila Arcangeli, Valentina Rossi, Tania Mammi, Isabella Schiavi, Francesca Zovato, Stefania Falcini, Fabio Calistri, Daniele Danesi, Rita Int J Mol Sci Case Report Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt–Hogg–Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt–Hogg–Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS). Here, we describe a novel FLCN variant observed in a subject manifesting disorders that were suspected to be related to BHDS and with a family history of multiple cancers. MDPI 2023-08-04 /pmc/articles/PMC10419138/ /pubmed/37569793 http://dx.doi.org/10.3390/ijms241512418 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 Case Report
Bandini, Erika
Zampiga, Valentina
Cangini, Ilaria
Ravegnani, Mila
Arcangeli, Valentina
Rossi, Tania
Mammi, Isabella
Schiavi, Francesca
Zovato, Stefania
Falcini, Fabio
Calistri, Daniele
Danesi, Rita
A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
title A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
title_full A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
title_fullStr A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
title_full_unstemmed A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
title_short A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
title_sort novel flcn variant in a suspected birt–hogg–dubè syndrome patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419138/
https://www.ncbi.nlm.nih.gov/pubmed/37569793
http://dx.doi.org/10.3390/ijms241512418
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