Coexistence of gain-of-function JAK2 germ line mutations with JAK2(V617F) in polycythemia vera

0472059 - ÚMG 2017 RIV US eng J - Journal Article
Láníková, Lucie - Babošová, Oľga - Swierczek, S. - Wang, L. - Wheeler, D.A. - Divoky, V. - Kořínek, Vladimír - Prchal, J.T.
Coexistence of gain-of-function JAK2 germ line mutations with JAK2(V617F) in polycythemia vera.
Blood. Roč. 128, č. 18 (2016), s. 2266-2270. ISSN 0006-4971. E-ISSN 1528-0020
R&D Projects: GA ČR GJ15-18046Y; GA MŠMT LO1419
Institutional support: RVO:68378050
Keywords : JAK2 mutations * polycythemia vera
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 13.164, year: 2016

We described the association of gain-of-function germline JAK2 mutations (T108A, L393V) coexisting with JAK2V617F in subjects with polycythemia vera phenotype. Both JAK2 germline mutations showed in vitro hypersensitivity to erythropoietin in BaF/3-EPOR cells and weak activation of JAK2/STAT signaling. It is suggestive, that JAK2 germline mutations may provide clonal advantage and increase the probability of acquiring JAK2V617F lesion during the evolution of polycythemia vera phenotype and may contribute to further genomic alterations in polycythemia vera clone and eventually fatal leukemic transformation.
Permanent Link: http://hdl.handle.net/11104/0270337