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JAK2 V617F mutation in essential thrombocythaemia: clinical associations and long‐term prognostic relevance
Author(s) -
Wolanskyj Alexandra P.,
Lasho Terra L.,
Schwager Susan M.,
McClure Rebecca F.,
Wadleigh Martha,
Lee Stephanie J.,
Gary Gilliland D.,
Tefferi Ayalew
Publication year - 2005
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2005.05764.x
Subject(s) - polycythaemia , myelofibrosis , jak2 v617f , medicine , gastroenterology , clinical significance , myeloid , polycythemia vera , bone marrow , metaplasia , mutation , essential thrombocythemia , myeloproliferative disorders , hematology , pathology , biology , genetics , gene
Summary Clinical correlates and long‐term prognostic relevance of the JAK2 V617F mutation was studied in 150 patients with essential thrombocythaemia (ET) from a single institution and followed for a median of 11·4 years. During this period, thrombotic complications were documented in 62 patients (41·3%) and transformation into acute myeloid leukaemia (AML), polycythaemia vera (PV), or myelofibrosis with myeloid metaplasia (MMM) occurred in 4 (2·7%), 8 (5·3%), and 15 (10%) patients, respectively. JAK2 V617F was detected in either archived bone marrow or blood cells from 73 patients (48·7%) but none were homozygous for the mutant allele. Parameters at diagnosis that were significantly associated with the presence of JAK2 V617F included advanced age and higher counts of both haemoglobin and leucocytes. During follow‐up, patients with the mutation were more likely to transform into PV but the incidences of AML, MMM, or thrombotic events were similar between patients with and without the mutation. Multivariate analysis identified advanced age, higher haemoglobin level, and thrombosis history but not the presence of JAK2 V617F as independent predictors of inferior survival. Therefore, although the presence of JAK2 V617F in ET appears to promote a PV phenotype, it might not carry treatment‐relevant information.