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Introduction: Alpha 1 antitrypsin deficiency (AATD) is a genetic condition that predisposes to the development of pulmonary emphysema and liver disease. Objectives: The aim of this study was to assess the characteristics of patients with AATD and the distribution of genotypes analyzed in the CHUVI Genetics Laboratory. Methods: Retrospective analysis of patients who underwent AAT levels determination between 2012-2017. Analysis of deficient alleles, frequency and distribution. Genetic study was performed in those cases with serum concentration of Alpha-1 antitrypsin ≤ 120 mg/dl and RCP ≤ 3 mg/dl (according to laboratory protocol). Results: 491 patients. Pi*ZZ genotype was found in 18 (3.7%), Pi*SZ in 100 (20.4%), Pi*MZ in 143 (29.1%), Pi*SS in 26 (5.3%) and No-Sno-Z in 174 (35,4%): 14 rare or null variants (6 Mmalton/M, 2 Mmalton/Z, 1 Mmalton/S, 1 S/QOurem, 1 S/MHerleen, 1 I/Z, 1 PLowell/S and 1 PLowell/Z), which were diagnosed by sequencing the gene. Serum levels were ZZ: 32 mg/dl (20-64), SZ: 66 mg/dl (42-120), MZ: 83 mg/dl (21-147), SS: 88 mg/dl (56-127) and No-S No-Z: 101 mg/dl (18-390). Conclusions: Genotypes associated with severe deficiency showed worse pulmonary function. Galicia is an area of relatively high prevalence of AATD, so this diagnostic possibility should be considered in the study of patients with diseases related to this genetic condition and in relatives of affected individuals.

Molecular characterization of non-small-cell lung cancer is becoming increasingly important with the appearance of molecular testing. Tumors with somatic mutations in the gene that encodes for the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) or in the gene that encodes for the anaplastic lymphoma kinase (ALK) preclude favorable responses to tyrosine kinase and ALK inhibitors, respectively. Semirigid thoracoscopy is a minimally invasive technique for pleural effusion management. However, there is scarce evidence assessing the role of semirigid thoracoscopy for molecular testing, with only one study including EGFR mutation status but no study analyzing ALK translocation. The aim of this prospective study was to evaluate the adequacy of samples obtained using semirigid thoracoscopy for EGFR mutation and ALK translocation analyses in confirmed primary lung cancers. We conducted a prospective analysis of 26 consecutive patients referred for semirigid thoracoscopy between November 2009 and July 2015. Twenty-two cases were adenocarcinomas. Fourteen samples were sent for molecular analysis. Semirigid thoracoscopy had a diagnostic yield of 95.45%for malignancy. EGFR mutation testing was possible in all (100%) cases. EGFR mutations were detected in 2/14 (14.2%) samples. ALK translocation testing was possible in all but one (90%), although negative in all of them. This study confirms the high clinical utility of samples obtained through semirigid thoracoscopy for EGFR and ALK genotyping in primary lung cancers.