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Article Dans Une Revue Blood Année : 2014

Presence of calreticulin mutations in JAK2-negative polycythemia vera

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.

Dates et versions

hal-03579004 , version 1 (17-02-2022)

Identifiants

Citer

Julien Broséus, Ji-Hye Park, Serge Carillo, Sylvie Hermouet, François Girodon. Presence of calreticulin mutations in JAK2-negative polycythemia vera. Blood, 2014, 124 (26), pp.3964-3966. ⟨10.1182/blood-2014-06-583161⟩. ⟨hal-03579004⟩
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