Presence of calreticulin mutations in JAK2-negative polycythemia vera.
Fiche publication
Date publication
décembre 2014
Journal
Blood
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BROSEUS Julien, Pr GIRODON François
Tous les auteurs :
Broséus J, Park JH, Carillo S, Hermouet S, Girodon F
Lien Pubmed
Résumé
Calreticulin (CALR) mutations have been reported in Janus kinase 2 (JAK2)- and myeloproliferative leukemia (MPL)-negative essential thrombocythemia and primary myelofibrosis. In contrast, no CALR mutations have ever been reported in the context of polycythemia vera (PV). Here, we describe 2 JAK2(V617F)-JAK2(exon12)-negative PV patients who presented with a CALR mutation in peripheral granulocytes at the time of diagnosis. In both cases, the CALR mutation was a 52-bp deletion. Single burst-forming units-erythroid (BFU-E) from 1 patient were grown in vitro and genotyped: the same CALR del 52-bp mutation was noted in 31 of the 37 colonies examined; 30 of 31 BFU-E were heterozygous for CALR del 52 bp, and 1 of 31 BFU-E was homozygous for CALR del 52 bp. In summary, although unknown mutations leading to PV cannot be ruled out, our results suggest that CALR mutations can be associated with JAK2-negative PV.
Mots clés
Aged, Aged, 80 and over, Alleles, Calreticulin, genetics, Erythrocytes, cytology, Exons, Gene Deletion, Genotype, Hemoglobins, chemistry, Heterozygote, Humans, Janus Kinase 2, genetics, Male, Mutation, Polycythemia Vera, genetics, Primary Myelofibrosis, genetics, Thrombocythemia, Essential, genetics, Thrombocytosis, genetics
Référence
Blood. 2014 Dec;124(26):3964-6