High risk of lung cancer in surfactant-related gene variant carriers

Several rare surfactant-related gene (SRG) variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of SRG variant carriers. We conducted a cros...

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Vydáno v:	The European respiratory journal Ročník 63; číslo 5
Hlavní autoři:	Brudon, Alexandre, Legendre, Marie, Mageau, Arthur, Bermudez, Julien, Bonniaud, Philippe, Bouvry, Diane, Cadranel, Jacques, Cazes, Aurélie, Crestani, Bruno, Dégot, Tristan, Delestrain, Céline, Diesler, Rémi, Epaud, Ralph, Philippot, Quentin, Théou-Anton, Nathalie, Kannengiesser, Caroline, Ba, Ibrahima, Debray, Marie-Pierre, Fanen, Pascale, Manali, Efrosine, Papiris, Spyros, Nathan, Nadia, Amselem, Serge, Gondouin, Antoine, Guillaumot, Anne, Andréjak, Claire, Jouneau, Stephane, Beltramo, Guillaume, Uzunhan, Yurdagul, Galodé, François, Westeel, Virginie, Mehdaoui, Anas, Hirschi, Sandrine, Leroy, Sylvie, Marchand-Adam, Sylvain, Nunes, Hilario, Picard, Clément, Prévot, Grégoire, Reynaud-Gaubert, Martine, De Vuyst, Paul, Wemeau, Lidwine, Defossez, Gautier, Zalcman, Gérard, Cottin, Vincent, Borie, Raphael
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England 01.05.2024
Témata:	Adult Aged ATP-Binding Cassette Transporters - genetics Cross-Sectional Studies Female Genetic Predisposition to Disease Heterozygote Humans Lung Diseases, Interstitial - genetics Lung Neoplasms - genetics Lung Neoplasms - pathology Male Middle Aged Pulmonary Surfactant-Associated Protein A - genetics Pulmonary Surfactant-Associated Protein C - genetics Pulmonary Surfactant-Associated Proteins - genetics Risk Factors Thyroid Nuclear Factor 1 - genetics
ISSN:	1399-3003, 1399-3003
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Popis
Shrnutí:	Several rare surfactant-related gene (SRG) variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of SRG variant carriers. We conducted a cross-sectional study of all adults with SRG variants in the OrphaLung network and compared lung cancer risk with telomere-related gene (TRG) variant carriers. We identified 99 SRG adult variant carriers ( (n=18), (n=31), (n=24), (n=14) and (n=12)), including 20 (20.2%) with lung cancer ( (n=7), (n=8), (n=3), (n=2) and (n=0)). Among SRG variant carriers, the odds of lung cancer was associated with age (OR 1.04, 95% CI 1.01-1.08), smoking (OR 20.7, 95% CI 6.60-76.2) and / variants (OR 3.97, 95% CI 1.39-13.2). Adenocarcinoma was the only histological type reported, with programmed death ligand-1 expression ≥1% in tumour cells in three samples. Cancer staging was localised (I/II) in eight (40%) individuals, locally advanced (III) in two (10%) and metastatic (IV) in 10 (50%). We found no somatic variant eligible for targeted therapy. Seven cancers were surgically removed, 10 received systemic therapy, and three received the best supportive care according to their stage and performance status. The median overall survival was 24 months, with stage I/II cancers showing better survival. We identified 233 TRG variant carriers. The comparative risk (subdistribution hazard ratio) for lung cancer in SRG patients TRG patients was 18.1 (95% CI 7.1-44.7). The high risk of lung cancer among SRG variant carriers suggests specific screening and diagnostic and therapeutic challenges. The benefit of regular computed tomography scan follow-up should be evaluated.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1399-3003 1399-3003
DOI:	10.1183/13993003.01809-2023