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Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary hypertension. Heritable and sporadic forms have been distinguished. Hypoxemia, profound reduction in the diffusion of carbon monoxide and haemodynamic confirmation of pre-capillary pulmonary hypertension are the major diagnostic criteria. Thoracic CT scanning and a response to pharmaceutical therapy provide additional information to confirm the diagnosis. A 52-year-old patient, three of whose siblings had pulmonary hypertension, was admitted with dyspnoea, malaise and palpitations. Right heart catheterisation confirmed pre-capillary pulmonary hypertension. A search for an EIF2AK4 mutation was carried out, and this showed a composite biallelic heterozygous mutation compatible with the diagnosis of familial PVOD, identical to that showed in one of his brothers. Given the signs of severity of the disease and the diagnosis of PVOD, whose response to pharmaceutical therapy is often poor, the patient was placed on a waiting list for lung transplantation. Despite a similar diagnosis in 3 brothers and follow-up proposed 11 years before the diagnosis, pulmonary hypertension appeared within a few weeks and led immediately to a severe clinical situation. Annual clinical and echocardiographic monitoring had been strongly advised to the patient, but had not allowed diagnosis at a mild or moderate stage of the disease. This clinical case shows that the identification of factors predicting the development of heritable PVOD at a pre-symptomatic stage is an important issue for clinical research.

Introduction La recente decouverte des addictions oncogeniques a radicalement modifie la prise en charge du cancer bronchopulmonaire avance via le developpement des therapies ciblees par inhibiteurs de tyrosine kinase. Notre etude avait pour objectifs l’estimation de la repartition des principales addictions oncogeniques et l’etude de leur impact pronostique chez les patients suivis au CHRU de Nancy pour un adenocarcinome bronchopulmonaire d’emblee metastatique. Methodes Une analyse retrospective incluant 114 patients qui presentaient un adenocarcinome bronchopulmonaire metastatique diagnostique au CHRU de Nancy entre 2012 est 2014 a ete realisee afin d’etudier la survie a 5 ans. Resultats La repartition des addictions oncogeniques dans notre population, comparable a celle obtenue sur le plan national [1] , etait la suivante : KRAS (27,2%), puis EGFR (13,2%), et enfin BRAF (4,4%) et ALK (1,8%) ( Tableau 1 ). Le pronostic de l’adenocarcinome bronchopulmonaire metastatique restait sombre avec une survie a 5 ans Conclusion La repartition des addictions oncogeniques dans l’adenocarcinome bronchopulmonaire au CHRU de Nancy, comprenant une majorite de patients mutes KRAS, semble superposable aux donnees de la litterature pour les populations d’Europe Occidentale. La mutation EGFR semble conferer un avantage pronostique, en grande partie explique par l’efficacite des therapies ciblant cette alteration moleculaire.