Prevalence of JAK2V617F Mutation in 1,247 Thai Patients with Suspected Myeloproliferative Neoplasms
Chakrit Bunyoo MSc1, Kriangpol Wiriyaukaradecha MSc1, Narongrit Sritana MSc1, Wandee Udomchaiprasertkul MSc1, Nithiphut Tantirukdham BSc1, Jin Tongsom MSc1, Chirayu Auewarakul MD, PhD2,3
Affiliation : 1 Molecular Biology and Genomic Research Laboratory, Division of Research and International Relations, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok, Thailand 2 Department of Medicine, Faculty of Medicine Siriraj Hospital, Bangkok, Thailand 3 Faculty of Medicine and Public Health, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok, Thailand
Objective : To determine the frequency of JAK2V617F mutation in Thai patients with clinically suspected myeloproliferative
neoplasms [MPNs] including polycythemia vera [PV], essential thrombocythemia [ET], primary myelofibrosis [PMF] and
unclassified MPN.
Materials and Methods : Overall, 1,247 samples were tested for JAK2V617F from January 2009 to May 2016. DNA was
extracted from leukocytes separated from peripheral blood or bone marrow. JAK2V617F was detected by allele specific
polymerase chain reaction [AS-PCR] followed by agarose gel electrophoresis analysis.
Results : The proportion of JAK2V617F positivity in disease subtypes was 49% for suspected PV, 54% for suspected ET,
43% for suspected PMF and 45% for unclassified MPN. The presence of JAK2V617F in each disease subtype was
associated with a significant overproduction of the blood compartments including increased leukocyte counts (p<0.001) and
platelet counts in PV (p<0.001), increased leukocyte counts (p<0.001), hemoglobin levels (p<0.001) and hematocrits in
ET (p<0.001), and increased platelet counts in PMF (p = 0.023) as compared to JAK2-wild type.
Conclusion : JAK2V617F was present in approximately half of the test samples with a high clinical suspicion of various
types of MPNs. The prevalence of JAK2V617F in clinically suspected PV cases was much lower than expected.
Keywords : Myeloproliferative neoplasms; JAK2V617F mutation; Allele specific PCR; Polycythemia, Thrombocythemia
