Cooccurring V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms.

Mambet, Cristina;Babosova, Olga;Defour, Jean-Philippe;Leroy, Emilie;Constantinescu, Stefan;et.al.
(2018) Blood — Vol. 132, n° 25, p. 2695-2699 (2018)

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(en) Although the concept of somatic driver mutations in myeloproliferative neoplasms (MPNs) represented by polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis is well established,1-3 the contribution of germline or co-occurring JAK2 variants to a particular MPN phenotype is less well understood.4,5 Recently, 2 germline JAK2 mutations, E846D and R1063H, were described in a case of hereditary erythrocytosis6 ; the same JAK2 R1063H variant was initially reported in 3 of 93 PV patients who were JAK2 V617F+. [...]
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Mambet, C., Babosova, O., Defour, J.-P., Leroy, E., Necula, L., Stanca, O., Tatic, A., Berbec, N., Coriu, D., Belickova, M., Kralova, B., Lanikova, L., Vesela, J., Pecquet, C., Saussoy, P., Havelange, V., Diaconu, C. C., Divoky, V., & Constantinescu, S. (2018). Cooccurring V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms. Blood, 132(25), 2695-2699. https://doi.org/10.1182/blood-2018-04-843060 (Original work published 2018)