[Pulmonary adenocarcinoma with double mutation EGFR: L858R and G719X].

Lung cancer with EGFR mutation is rare in our country, with an estimated incidence of 7-10%. It is well known that, in this type of disease, specific inhibitors should be used, as they increase patient survival and therefore prognosis. So-called tumour heterogeneity, the possibility of various mutations concurring in the same tumour, is currently being debated.

[Retrospective study of lung carcinoid: experience in a third level Spanish hospital].

Introduction: Pulmonary carcinoids are relatively rare neuroendocrine neoplasms, accounting for only 1-2% of malignant thoracic tumours. We describe our experience in the management and follow-up of such an infrequent tumour, with special emphasis on possible problems that might arise.

Patients And Methods: We present a descriptive retrospective study of all patients diagnosed with carcinoid tumour between January 2013 and January 2018.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice.