Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Date publication

avril 2016

Journal

Orphanet journal of rare diseases

Auteurs

Membres identifiés du Cancéropôle Est :
Dr CORNILLET-LEFEBVRE Pascale , Pr JONVEAUX Philippe , Pr PHILIPPE Christophe

Tous les auteurs :
Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci MJ, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/27112265

Résumé

Less than 50 patients with FPD/AML (OMIM 601309) have been reported as of today and there may an underestimation. The purpose of this study was to describe the natural history, the haematological features and the genotype-phenotype correlations of this entity in order to, first, screen it better and earlier, before leukaemia occurrence and secondly to optimize appropriate monitoring and treatment, in particular when familial stem cell transplantation is considered.

Mots clés

Adolescent, Adult, Blood Coagulation Disorders, Inherited, genetics, Blood Platelet Disorders, genetics, Child, Child, Preschool, Comparative Genomic Hybridization, Core Binding Factor Alpha 2 Subunit, genetics, Female, Genetic Association Studies, Humans, Infant, Leukemia, Myeloid, Acute, genetics, Male, Middle Aged, Mutation, Pedigree, Thrombocytopenia, diagnosis, Young Adult

Référence

Orphanet J Rare Dis. 2016 Apr;11:49