• Julien Broséus, Ji-Hye Park, Serge Carillo, Sylvie Hermouet, and François Girodon.
• Département d'Hématologie Biologique, Pôle Laboratoires, Centre Hospitalier Universitaire de Nancy, Nancy, France; INSERM U954, Université de Lorraine, Nancy, France;
• Blood. 2014 Dec 18; 124 (26): 3964-6.

AbstractCalreticulin (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.© 2014 by The American Society of Hematology.

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