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

Autor:	Brudon A; Service d'Oncologie Thoracique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.; Université Paris Cité, Inserm CIC-EC 1425, Paris, France.; A. Brudon and M. Legendre contributed equally to this work., Legendre M; UF de Génétique Moléculaire, Hôpital Armand Trousseau, AP-HP, Paris, France.; Sorbonne Université, Inserm UMR-S 933, Maladies Génétiques d'Expression Pédiatrique, Paris, France.; A. Brudon and M. Legendre contributed equally to this work., Mageau A; Département de Médecine Interne, Hôpital Bichat, AP-HP, Paris, France.; Université Paris Cité, Inserm IAME UMR 1137 Team Descid, Paris, France., Bermudez J; Service de Pneumologie, Centre de Compétences de Maladies Pulmonaires Rares et de Transplantation Pulmonaire, CHU Nord, AP-HM, Marseille, France.; Aix-Marseille Université, Marseille, France., Bonniaud P; Department of Respiratory Diseases and Intensive Care, Reference Constitutive Center for Adult Rare Pulmonary Diseases, Dijon-Bourgogne University Hospital, University of Burgundy, Inserm UMR1231, Dijon, France., Bouvry D; Département de Pneumologie, Hôpital Avicenne, AP-HP, Bobigny, France.; Université Paris 13, Inserm UMR U1272, Bobigny, France., Cadranel J; Service de Pneumologie et Oncologie Thoracique, DMU APPROCHES, Hôpital Tenon, AP-HP, Paris, France.; Sorbonne Université, GRC04 Theranoscan, Paris, France., Cazes A; Département d'Anatomie Pathologique, Hôpital Bichat, AP-HP, Paris, France.; Université Paris Cité, Inserm UMR-S 1152 PHERE, Paris, France., Crestani B; Université Paris Cité, Inserm UMR-S 1152 PHERE, Paris, France.; Service de Pneumologie A, Hôpital Bichat, AP-HP, Paris, France., Dégot T; Centre de Référence pour les Maladies Respiratoires Rares RespiRare, Centre Hospitalier Intercommunal de Créteil, Créteil, France., Delestrain C; Université de Paris Est Créteil, Inserm IMRB, Créteil, France.; Service de Pneumologie, Centre National Coordinateur de Référence des Pathologies Pulmonaires Rares, ERN-LUNG, Hôpital Louis Pradel, Hospices Civils de Lyon, Lyon, France., Diesler R; Université Claude Bernard Lyon 1, Lyon, France.; Département de Génétique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France., Epaud R; Centre de Référence pour les Maladies Respiratoires Rares RespiRare, Centre Hospitalier Intercommunal de Créteil, Créteil, France.; Université de Paris Est Créteil, Inserm IMRB, Créteil, France., Philippot Q; Université Paris Cité, Inserm UMR-S 1152 PHERE, Paris, France.; Service de Pneumologie A, Hôpital Bichat, AP-HP, Paris, France., Théou-Anton N; Université Paris Cité, Paris, France.; Service de Radiologie, Hôpital Bichat, AP-HP, Paris, France., Kannengiesser C; Département de Génétique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.; Université Paris Cité, Paris, France., Ba I; Département de Génétique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.; Université Paris Cité, Paris, France., Debray MP; Université Paris Cité, Paris, France.; Service de Radiologie, Hôpital Bichat, AP-HP, Paris, France., Fanen P; Université de Paris Est Créteil, Inserm IMRB, Créteil, France.; Service de Radiologie, Hôpital Bichat, AP-HP, Paris, France., Manali E; Département de Pneumologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares RespiRare, Paris, France., Papiris S; General University Hospital 'Attikon', Medical School, National and Kapodistrian University of Athens, Athens, Greece., Nathan N; Sorbonne Université, Inserm UMR-S 933, Maladies Génétiques d'Expression Pédiatrique, Paris, France.; Service de Pneumologie, Centre des Maladies Pulmonaires Rares, Hôpital de Besançon, Besançon, France., Amselem S; UF de Génétique Moléculaire, Hôpital Armand Trousseau, AP-HP, Paris, France.; Sorbonne Université, Inserm UMR-S 933, Maladies Génétiques d'Expression Pédiatrique, Paris, France., Gondouin A; Service de Pneumologie, Hôpital de Brabois, Vandoeuvre-les-Nancy, France., Guillaumot A; Respiratory and Intensive Care Unit, University Hospital Amiens, Amiens, France., Andréjak C; EA 4294, AGIR, Jules Verne Picardy University, Amiens, France.; Service de Pneumologie, Centre de Référence Maladies Pulmonaires Rares, Hôpital Pontchaillou, CHU Rennes, Inserm UMR1085 IRSET, Université de Rennes 1, EHESP, Rennes, France., Jouneau S; Pediatrics Department, Pediatric Pulmonology, CHU Bordeaux, Bordeaux, France., Beltramo G; Department of Respiratory Diseases and Intensive Care, Reference Constitutive Center for Adult Rare Pulmonary Diseases, Dijon-Bourgogne University Hospital, University of Burgundy, Inserm UMR1231, Dijon, France., Uzunhan Y; Département de Pneumologie, Hôpital Avicenne, AP-HP, Bobigny, France., Galodé F; Pneumonology and Thoracic Oncology Department, Eure-Seine Hospital Center, Évreux, France., Westeel V; Service de Pneumologie, Centre des Maladies Pulmonaires Rares, Hôpital de Besançon, Besançon, France., Mehdaoui A; Service de pneumologie, FHU Oncoage, Hôpital Pasteur - CHU Nice, Nice, France., Hirschi S; Service de Pneumologie, Groupe de Transplantation Pulmonaire, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Leroy S; Université Nice Côte d'Azur, Nice, France.; Service de Pneumologie, Hôpital de Tours, Tours, France., Marchand-Adam S; Université de Tours, Inserm U1100, Tours, France.; Service de Pneumologie et de Transplantation Pulmonaire, Hôpital Foch, Suresnes, France., Nunes H; Département de Pneumologie, Hôpital Avicenne, AP-HP, Bobigny, France.; Université Paris 13, Inserm UMR U1272, Bobigny, France., Picard C; Service de Pneumologie, Hôpital Larrey, Toulouse, France., Prévot G; Service de Pneumologie, Hôpital Erasme, Brussels, Belgium., Reynaud-Gaubert M; Service de Pneumologie, Centre de Compétences de Maladies Pulmonaires Rares et de Transplantation Pulmonaire, CHU Nord, AP-HM, Marseille, France.; Aix-Marseille Université, Marseille, France., De Vuyst P; Service de Pneumologie et Immuno-allergie, Institut Coeur-Poumon, Lille, France., Wemeau L; Université de Poitiers, Poitiers, France., Defossez G; A. Brudon and M. Legendre contributed equally to this work., Zalcman G; Service d'Oncologie Thoracique, Hôpital Bichat, AP-HP, Institut du Cancer AP-HP Nord, Paris, France.; Université Paris Cité, Inserm CIC-EC 1425, Paris, France., Cottin V; Service de Pneumologie, Centre National Coordinateur de Référence des Pathologies Pulmonaires Rares, ERN-LUNG, Hôpital Louis Pradel, Hospices Civils de Lyon, Lyon, France.; Université Claude Bernard Lyon 1, Lyon, France., Borie R; Université Paris Cité, Inserm UMR-S 1152 PHERE, Paris, France raphael.borie@aphp.fr.; Service de Pneumologie A, Hôpital Bichat, AP-HP, Paris, France.
Jazyk:	angličtina
Zdroj:	The European respiratory journal [Eur Respir J] 2024 May 02; Vol. 63 (5). Date of Electronic Publication: 2024 May 02 (Print Publication: 2024).
DOI:	10.1183/13993003.01809-2023
Abstrakt:	Background: 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. Methods: 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. Results: We identified 99 SRG adult variant carriers ( SFTPA1 (n=18), SFTPA2 (n=31), SFTPC (n=24), ABCA3 (n=14) and NKX2-1 (n=12)), including 20 (20.2%) with lung cancer ( SFTPA1 (n=7), SFTPA2 (n=8), SFTPC (n=3), NKX2-1 (n=2) and ABCA3 (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 SFTPA1 / SFTPA2 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 versus TRG patients was 18.1 (95% CI 7.1-44.7). Conclusions: 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. Competing Interests: Conflict of interest: P. Bonniaud reports grants from AstraZeneca, lecture honoraria from Sanofi and AstraZeneca, travel support from AstraZeneca, Novartis, Sanofi, Boehringer and Stallergenes, and advisory board membership with AstraZeneca, Novartis, Sanofi, GSK and Boehringer. J. Cadranel had a patent planned, received consulting fees and participated on a data safety monitoring board or advisory board for AbbVie, Amgen, AstraZeneca, Boehringer Ingelheim, BMS, Daichi, Lilly, Pfizer, Novartis, MSD, Roche and Takeda. A. Cazes reports lecture honoraria and travel support from Boehringer Ingelheim. B. Crestani reports grants from Boehringer Ingelheim, consulting fees from Apellis, BMS, Boehringer Ingelheim and Sanofi, lecture honoraria from Apellis, AstraZeneca, BMS, Boehringer Ingelheim, Novartis and Sanofi, support for attending meetings or travel from AstraZeneca, BMS, Boehringer Ingelheim and Sanofi, participated on a data safety monitoring board or advisory board for Apellis, BMS, Boehringer Ingelheim and Sanofi, and had a leadership role as President of the Board of Trustees of the Fondation du Souffle. R. Epaud reports consulting fees from AstraZeneca, lecture honoraria from GSK, AstraZeneca and Menarini, travel support from GSK and AstraZeneca, and advisory board membership with AstraZeneca and Novartis. M-P. Debray reports lecture honoraria and travel support from Boehringer Ingelheim. E. Manali reports lecture honoraria from Boehringer Ingelheim, CLS Behring and Hoffman-La Roche, support for attending meetings or travel from Boehringer Ingelheim, CLS Behring, Hoffman-La Roche and Elpen, and had a leadership role as a Chair in the ERS Task Force for transition of chILD to adult care. S. Papiris reports lecture honoraria from Boehringer Ingelheim and Hoffmann-La Roche, and travel support from Boehringer Ingelheim and Elpen. N. Nathan reports grants from Legs poix de la Chancellerie des Universités 2022 (number 2022000594). C. Andréjak participated on a data safety monitoring board or advisory board for the EVER-ILD2 study (rituximab in diffuse interstitial pneumonia) and received funding via a grant from the French Research Ministry. S. Jouneau reports grants from AIRB, Boehringer Ingelheim and Roche, lecture honoraria from AIRB, AstraZeneca, Bristol Myers Squibb, Boehringer Ingelheim, Chiesi, Genzyme, GSK, LVL, Novartis, Pfizer, Roche and Sanofi, travel support from Boehringer Ingelheim, Roche and AIRB, and advisory board participation for Boehringer Ingelheim, GSK and Sanofi. G. Beltramo reports lecture honoraria from Bristol Myers Squibb, and support for attending meetings or travel from Sanofi Aventis France and Boehringer Ingelheim France. S. Hirschi reports research grants from Agence de la Biomedécine, CSL Behring and Adiral medical assistance, lecture honoraria from Boehringer Ingelheim, travel support from CSL Behring, Boehringer Ingelheim and ISIS Medical, and received medical equipment from ISIS Medical. C. Picard reports lecture honoraria and consulting fees from Boehringer Ingelheim. G. Prévot reports honoraria for presentations and educational event from Boehringer Ingelheim, Sanofi, Jansen and MSD. G. Zalcman reports consulting fees from AstraZeneca, BMS, Pfizer and Sanofi, lecture honoraria from BMS, AstraZeneca and Sanofi, support for attending meetings or travel from AstraZeneca and BMS, and participated on a data safety monitoring board or advisory board for AstraZeneca and BMS. V. Cottin reports grants from Boehringer Ingelheim, consulting fees from AstraZeneca, Boehringer Ingelheim, Celgene/BMS, CSL Behring, Ferrer/United Therapeutics, GSK, Pliant, Pure Tech, RedX, Roche, Sanofi and Shionogi, lecture honoraria from Boehringer Ingelheim, Ferrer/United Therapeutics and Roche, support for attending meetings or travel from Boehringer Ingelheim and Roche, participated on a data safety monitoring board or advisory board for Galapagos, Galecto and GSK, and had a leadership role in an adjudication committee for Fibrogen. R. Borie reports consulting fees from Boehringer Ingelheim, Ferrer and Sanofi, lecture honoraria from Boehringer Ingelheim and Roche, travel support from Boehringer Ingelheim, Roche and Chiesi, and advisory board participation for Savara. The remaining authors have no potential conflicts of interest to disclose. (Copyright ©The authors 2024.)
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