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Article Dans Une Revue European Respiratory Journal Année : 2024

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

1 AP-HP - Hôpital Bichat - Claude Bernard [Paris]
2 AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP)
3 U933 - Maladies génétiques d'expression pédiatrique
4 IAME (UMR_S_1137 / U1137) - Infection, Anti-microbiens, Modélisation, Evolution
5 AMU - Aix Marseille Université
6 UB - Université de Bourgogne
7 LNC - Lipides - Nutrition - Cancer (U866)
8 Hôpital Avicenne [AP-HP]
9 H&P - U1272 Inserm - Hypoxie et Poumon : pneumopathologies fibrosantes, modulations ventilatoires et circulatoires
10 Inserm U964 - CNRS UMR7104 - IGBMC - Centre for Integrative Biology - CBI
11 PHERE (UMR_S_1152 / U1152) - Physiopathologie et Epidémiologie des Maladies Respiratoires
12 HUS - Les Hôpitaux Universitaires de Strasbourg
13 CHIC - Centre Hospitalier Intercommunal de Créteil
14 IMRB - Institut Mondor de Recherche Biomédicale
15 Hôpital Louis Pradel [CHU - HCL]
16 HCL - Hospices Civils de Lyon
17 NKUA - National and Kapodistrian University of Athens
18 EGM (UMR_8261 / FRE_3630) - Expression Génétique Microbienne
19 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
20 CHU Nancy - Centre Hospitalier Universitaire de Nancy
21 CHU Amiens-Picardie
22 AGIR - Agents infectieux, résistance et chimiothérapie - UR UPJV 4294
23 Discovery French Trial Management Team
24 Centre Hospitalier Universitaire [Rennes]
25 Irset - Institut de recherche en santé, environnement et travail
26 CHU de Bordeaux Pellegrin [Bordeaux]
27 CHU Nice - Centre Hospitalier Universitaire de Nice
28 CHU - Hôpital Pasteur [Nice]
29 CHRU Tours - Centre Hospitalier Régional Universitaire de Tours
30 CEPR - Centre d’Etude des Pathologies Respiratoires (CEPR), UMR 1100
31 Hôpital Foch [Suresnes]
32 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
33 Hôpital Albert Calmette
34 UP - Université de Poitiers = University of Poitiers
35 UP13 - Université Paris 13
36 CIC 1425 - Centre d'investigation Clinique [CHU Bichat] - Épidémiologie clinique
Julien Bermudez
Guillaume Beltramo
Yurdagül Uzunhan
François Galode
Anas Mehdaoui
  • Fonction : Auteur
  • PersonId : 844554
Clement Picard
Martine Reynaud-Gaubert
  • Fonction : Auteur
  • PersonId : 907693
Paul de Vuyst
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-04567614 , version 1 (03-05-2024)

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Citer

Alexandre Brudon, Marie Legendre, Arthur Mageau, Julien Bermudez, Philippe Bonniaud, et al.. High risk of lung cancer in surfactant-related gene variant carriers. European Respiratory Journal, 2024, pp.2301809. ⟨10.1183/13993003.01809-2023⟩. ⟨hal-04567614⟩
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