Correlations between Janus Kinase 2 V617F Allele Burdens and Clinicohematologic Parameters in Myeloproliferative Neoplasms

Title
Correlations between Janus Kinase 2 V617F Allele Burdens and Clinicohematologic Parameters in Myeloproliferative Neoplasms
Author(s)
김유경Ha, Jung-Sook[Ha, Jung-Sook]정순일Jung, He-Ra[Jung, He-Ra]Chung, In-Sung[Chung, In-Sung]
Keywords
ESSENTIAL THROMBOCYTHEMIA; POLYCYTHEMIA-VERA; IDIOPATHIC MYELOFIBROSIS; HOMOZYGOUS JAK2(V617F); MUTATION; JAK2; DISORDERS; PHENOTYPE; IDENTIFICATION; TRANSFORMATION
Issue Date
201211
Publisher
KOREAN SOC LABORATORY MEDICINE
Citation
ANNALS OF LABORATORY MEDICINE, v.32, no.6, pp.385 - 391
Abstract
Background: This study evaluated potential correlations between the allele burden of the Janus kinase 2 (JAK2) V617F mutation and clinicohematologic characteristics in patients with myeloproliferative neoplasms (MPN). Methods: Clinical and hematologic features were reviewed for 103 MPN patients, including patients with polycythemia vera (PV, 22 patients), essential thrombocythemia (ET, 64 patients), and primary myelofibrosis (PMF, 17 patients). JAK2 V617F allele status and allele burdens were measured by allele-specific PCR and pyrosequencing, respectively. Results: The JAK2 V617F mutation was detected in 95.5%, 68.8%, and 52.9% of PV, ET, and PMF patients, respectively. JAK2 V617F-positive ET patients were significantly older and exhibited higher neutrophil fractions, a higher frequency of thrombotic events, and a higher myelofibrosis rate than JAK2 V617F-negative patients (P<0.05). PV patients carried the highest mean T allele burden (66.0% +/- 24.9%) compared with ET (40.5% +/- 25.2%) and PMF patients (31.5% +/- 37.0%) (P=0.00). No significant correlations were detected between V617F allele burden and patient age, white blood cell count, Hb, Hct, or the platelet count for PV, ET, or PMF patients. ET patients with organomegaly had a higher JAK2 V617F allele burden (53.4% +/- 23.7%) than patients without organomegaly (35.6% +/- 24.3%) (P=0.03). Conclusions: The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenotypes of ET patients, including older age, higher neutrophil count, and greater rates of organomegaly, thrombotic events, and myelofibrosis. For PV and PMF patients, larger-scale studies involving more MPN patients are needed.
URI
http://hdl.handle.net/YU.REPOSITORY/27015http://dx.doi.org/10.3343/alm.2012.32.6.385
ISSN
2234-3806
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의과대학 > 진단검사의학교실 > Articles
의과대학 > 영상의학과학교실 > Articles
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