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Risk-Reducing Genetic Variant of Wilms Tumor 1 Gene rs16754 in Korean Patients With BCR-ABL1-Negative Myeloproliferative Neoplasm
2015; 35(3): 348-351
Article
Original Article
Ann Lab Med 2012; 32(6): 385-391
Published online November 1, 2012 https://doi.org/10.3343/alm.2012.32.6.385
Copyright © Korean Society for Laboratory Medicine.
Correlations between Janus Kinase 2 V617F Allele Burdens and Clinicohematologic Parameters in Myeloproliferative Neoplasms
Jung-Sook Ha, M.D.1, Yu-Kyung Kim, M.D.2, Soon-Il Jung, M.D.3, He-Ra Jung, M.D.4, and In-Sung Chung, M.D.5
Department of Laboratory Medicine1, Keimyung University School of Medicine, Daegu; Department of Laboratory Medicine2, Kyungbook National University School of Medicine, Daegu; Department of Laboratory Medicine3, Yeungnam University College of Medicine, Daegu; Departments of Pathology4,
Occupational and Environmental Medicine5, Keimyung University School of Medicine, Daegu, Korea
Correspondence to: Jung-Sook Ha
Department of Laboratory Medicine, Keimyung University School of Medicine, 56 Dalseong-ro, Jung-gu, Daegu 700-712, Korea
Tel: +82-53-250-7266
Fax: +82-53-250-7275
E-mail: ksksmom@dsmc.or.kr
Received: March 12, 2012; Revised: July 5, 2012; Accepted: August 6, 2012
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: Janus kinase 2, Allele, Myeloproliferative neoplasm