TY - JOUR
T1 - A prospective study of 338 patients with polycythemia vera
T2 - The impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications
AU - Passamonti, F.
AU - Rumi, E.
AU - Pietra, D.
AU - Elena, C.
AU - Boveri, E.
AU - Arcaini, L.
AU - Roncoroni, E.
AU - Astori, C.
AU - Merli, M.
AU - Boggi, S.
AU - Pascutto, C.
AU - Lazzarino, M.
AU - Cazzola, M.
PY - 2010/9
Y1 - 2010/9
N2 - We studied the relationship between JAK2 (V617F) mutant allele burden and clinical phenotype, disease progression and survival in patients with polycythemia vera (PV). The percentage of granulocyte mutant alleles was evaluated using a quantitative real-time polymerase chain reaction-based allelic discrimination assay. Of the 338 patients enrolled in this prospective study, 320 (94.7%) carried the JAK2 (V617F) mutation. Direct relationships were found between mutant allele burden and hemoglobin concentration (P0.001), white blood cell count (P0.001), spleen size (P0.001) and age-adjusted bone marrow cellularity (P0.002), while an inverse relationship was found with platelet count (P0.001). During the study period, eight patients progressed to post-PV myelofibrosis (MF) (all carrying 50% mutant alleles), while 10 patients developed acute myeloid leukemia (AML). The mutant allele burden was significantly related to the risk of developing myelofibrosis (P0.029) and retained its significant effect also in multivariable analysis (P0.03). By contrast, the risk of developing AML as well as that of thrombosis was not significantly related to mutant allele burden. Leukocytosis did not affect thrombosis, MF, leukemia or survival. In conclusion, a JAK2 (V617F) allele burden 50% represents a risk factor for progression to MF in PV.
AB - We studied the relationship between JAK2 (V617F) mutant allele burden and clinical phenotype, disease progression and survival in patients with polycythemia vera (PV). The percentage of granulocyte mutant alleles was evaluated using a quantitative real-time polymerase chain reaction-based allelic discrimination assay. Of the 338 patients enrolled in this prospective study, 320 (94.7%) carried the JAK2 (V617F) mutation. Direct relationships were found between mutant allele burden and hemoglobin concentration (P0.001), white blood cell count (P0.001), spleen size (P0.001) and age-adjusted bone marrow cellularity (P0.002), while an inverse relationship was found with platelet count (P0.001). During the study period, eight patients progressed to post-PV myelofibrosis (MF) (all carrying 50% mutant alleles), while 10 patients developed acute myeloid leukemia (AML). The mutant allele burden was significantly related to the risk of developing myelofibrosis (P0.029) and retained its significant effect also in multivariable analysis (P0.03). By contrast, the risk of developing AML as well as that of thrombosis was not significantly related to mutant allele burden. Leukocytosis did not affect thrombosis, MF, leukemia or survival. In conclusion, a JAK2 (V617F) allele burden 50% represents a risk factor for progression to MF in PV.
KW - JAK2
KW - myelofibrosis
KW - polycythemia
KW - prognosis
KW - thrombosis
UR - http://www.scopus.com/inward/record.url?scp=77956439565&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77956439565&partnerID=8YFLogxK
U2 - 10.1038/leu.2010.148
DO - 10.1038/leu.2010.148
M3 - Article
C2 - 20631743
AN - SCOPUS:77956439565
VL - 24
SP - 1574
EP - 1579
JO - Leukemia
JF - Leukemia
SN - 0887-6924
IS - 9
ER -