Prevalence of jak2v617f and its clinical correlation in thais with myeloproliferative neoplasm

Abstract

Myeloproliferative neoplasm (MPN) is a group of various chronic myeloid cancers. According to the 2008 WHO recommendation, JAK2V617F mutation is a major diagnostic criterion for these diseases, particularly the Philadelphia chromosome-negative MPN (Ph- MPN). Prevalence of such mutation, however, has been reported differently in numbers based on a study population; never before in Thais. This study aims to explore the prevalence of JAK2V617F mutation in Thai MPN patients and examine its correlation to clinical features. 103 individuals diagnosed MPN after the 2008 WHO recommendation were recruited: 96 Philadelphia-negative MPN and 7 CML. Blood samples were taken for DNA isolation. JAK2V617F detection was examined using AS-PCR and PCR-RFLP. Clinical data at the diagnosed date were matched to the molecular outcome. In the Ph- MPN population, prevalence of JAK2V617F was 68.8 % (66/96): 59.2% (29/49) in ET, 80.6% (25/31) in PV, 70.0% (7/10) in PMF, and 83.3% (5/6) in unclassifiable MPN. None of CML patients exhibited the mutation (0/7). The mutant group had less bleeding history (P = 0.039) and MCV than the wild type (P = 0.006). No difference of all parameters between both groups showed in ET, except slightly higher white cells and platelets level of the mutant than the wild type without significance. In PV, the haemoglobin level of the mutant was lower than the wild type (P = 0.038) while the platelet level was higher (P= 0.014). In conclusion, JAK2V617F does exist in Thai MPN patients. Its prevalence is close to other populations with ethnical difference. The mutant displayed some difference in parameters to the wild type, referring to clinical contribution of the mutation. Nevertheless, other factors can not be overlooked. Vascular circumstances and other intracellular signal transduction molecules could altogether participate in pathophysiology.