title: Presence of calreticulin mutations in JAK2-negative polycythemia vera.
abstract: 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.
authors.affiliation: Département d'Hématologie Biologique, Pôle Laboratoires, Centre Hospitalier Universitaire de Nancy, Nancy, France; INSERM U954, Université de Lorraine, Nancy, France;
authors.forename: Julien
authors.initials: J
authors.lastname: Broséus
authors.affiliation: Département d'Hématologie Biologique, Pôle Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France;
authors.forename: Ji-Hye
authors.initials: JH
authors.lastname: Park
authors.affiliation: Département de Cytologie Clinique, Pôle Biologie, Centre Hospitalier Universitaire de Nîmes, Nîmes, France; Unité Mixte de Recherche 5247, Centre National de la Recherche Scientifique-Université de Montpellier, Montpellier, France;
authors.forename: Serge
authors.initials: S
authors.lastname: Carillo
authors.affiliation: Département d'Hématologie, Pôle Biologie, Centre Hospitalier Universitaire de Nantes, Nantes, France; INSERM U892, Institut de Recherche Thérapeutique, Nantes, France;
authors.forename: Sylvie
authors.initials: S
authors.lastname: Hermouet
authors.affiliation: Département d'Hématologie Biologique, Pôle Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France; INSERM U866, Université de Bourgogne, Dijon, France; and Centre de Ressources Biologiques Ferdinand Cabanne, Dijon, France.
authors.forename: François
authors.initials: F
authors.lastname: Girodon
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D037282:Calreticulin / Q000235:genetics*; D004912:Erythrocytes / Q000166:cytology; D005091:Exons; D017353:Gene Deletion; D005838:Genotype; D006454:Hemoglobins / Q000737:chemistry; D006579:Heterozygote; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D009154:Mutation; D011087:Polycythemia Vera / Q000235:genetics*; D055728:Primary Myelofibrosis / Q000235:genetics*; D013920:Thrombocythemia, Essential / Q000235:genetics; D013922:Thrombocytosis / Q000235:genetics*
chemical_list: D037282:Calreticulin; D006454:Hemoglobins; C507924:JAK2 protein, human; D053614:Janus Kinase 2