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

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.

Effectiveness of pediatric asthma education program in the context of a general hospital in France: A retrospective real-life study.

Objective: To assess the feasibility and effectiveness of a pediatric asthma education program delivered in the context of a French suburban general hospital. Design: Monocentric retrospective study including children with asthma in Melun, Île-de-France, from January to December 2019. Data collected concerned asthma management, symptoms, education, and knowledge. Results: We included 262 patients with a median age of 4.5 years. Asthma education (AE) was taught to 226 (86 %) children, 36 with minimal education (ME), 155 (69 %) with an unstructured asthma education program (USEP) and 71 (31 %) a structured asthma education program (SEP). Patients with an SEP had better knowledge of the disease and its treatment as compared with those with a USEP or ME (p < 0.05). Lung function was evaluated for 70 % of children with ME, 90 % with a USEP (p = 0.144) and 77 % an SEP (p = 0.455). Allergy testing was assessed for 42 % of children with ME, 69 % a USEP (p = 0.020) and 57 % an SEP (p = 0.185). Almost all children with USEP (93 %) and SEP (94 %) also had a written asthma action plan as compared with 49 % of the children with ME (p < 0.001). Also, 76 % of children with ME did not have an asthma follow-up as compared with 37 % with a USEP and 52 % an SEP. Overall, 69 % of children with ME had at least one hospitalization within the year as compared with 32 % with a USEP (p = 0.001) and 59 % an SEP (p = 0.506). Conclusions: An asthma education program delivered in a general hospital resulted in increased disease knowledge for children and their caregivers, together with reduced acute interventions.