TY - JOUR
T1 - Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms
T2 - A critical reappraisal
AU - Vannucchi, A. M.
AU - Antonioli, E.
AU - Guglielmelli, P.
AU - Pardanani, A.
AU - Tefferi, A.
N1 - Funding Information:
This study was supported by Associazione Italiana per la Ricerca sul Cancro, Milano, and projects from Ministero Italiano della Università e Ricerca (COFIN 2006067001_003) to AMV.
PY - 2008/7
Y1 - 2008/7
N2 - JAK2 and MPL mutations are recurrent in myeloproliferative neoplasms (MPNs). A JAK2 mutation, primarily JAK2V617F, is almost invariably associated with polycythemia vera (PV). However, JAK2V617F also occurs in the majority of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) as well as in a much smaller percentage of those with other MPNs. The mechanism(s) behind this one allele-multiple phenotypes phenomenon has not been fully elucidated. The issue is further confounded by the presence of marked variation in JAK2V617F allele burden among mutation-positive patients. In the current communication, we discuss potential mechanisms for phenotypic diversity among JAK2V617F-positive MPNs as well as review the current literature in regard to genotype-phenotype correlations (that is clinical correlates and prognostic significance) in the context of both the presence or absence of the mutation (ET and PMF) and its allele burden (PV, ET and PMF).
AB - JAK2 and MPL mutations are recurrent in myeloproliferative neoplasms (MPNs). A JAK2 mutation, primarily JAK2V617F, is almost invariably associated with polycythemia vera (PV). However, JAK2V617F also occurs in the majority of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) as well as in a much smaller percentage of those with other MPNs. The mechanism(s) behind this one allele-multiple phenotypes phenomenon has not been fully elucidated. The issue is further confounded by the presence of marked variation in JAK2V617F allele burden among mutation-positive patients. In the current communication, we discuss potential mechanisms for phenotypic diversity among JAK2V617F-positive MPNs as well as review the current literature in regard to genotype-phenotype correlations (that is clinical correlates and prognostic significance) in the context of both the presence or absence of the mutation (ET and PMF) and its allele burden (PV, ET and PMF).
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U2 - 10.1038/leu.2008.113
DO - 10.1038/leu.2008.113
M3 - Review article
C2 - 18496562
AN - SCOPUS:47649123488
SN - 0887-6924
VL - 22
SP - 1299
EP - 1307
JO - Leukemia
JF - Leukemia
IS - 7
ER -