The Clinical Research Of The Relationship Between JAK2V617F Mutation And Myeloproliferative Disorders

Objective:To investigate and analyze JAK2V617F mutation and clinical significance in patients with myetoproliferafive disorders(MPD).Methods:1, Diagnose and classify the 236 patients on a retrospective study.2, Collect the genomic DNA from blood cells and bone marrow in rutine method.3, Detect the JAK2V617F mutation in all patients by allele-specific polymerase chain reaction(AS-PCR) and check the sequence of part of the cases.4, Analyze the mutation rates among different diseases and compare the clinical/lab examine features between the positive group and negative group.Results:(1) 236 patients were classified as follows:157 patients in myeloproliferative disorders(MPD) (include 44 in PV,63 in ET,48 in PMF,1 in CEL,1 in CNL);26 patients in chronic myelogenous leukemia (CML);26 patients in myelodysplastic syndrome (MDS);5 patients in chronic myelomonocytic leukemia (CMML);13 patients in acute myeloid leukemia (AML);2 patients in acute lymphocytic leukemia (ALL);2 patients in chronic lymphocytic leukemia (CLL) and 5 patients in lymphoma. (2) JAK2V617F was detected in 110 patients in all(40 in PV, 39 in ET,27 in PMF,1 in CNL,1 in MDS,1 in CMML,1 in AML). The mutation rate of each disease is 91% in PV,62% in ET,56% in PMF,0% in CML,4% in MDS,20% in CMML,8% in AML,0% in ALL,CLL and Lymphoma. (3) The mutation rate in MPD with BCR-ABL(-) was much higher than CML and other diseases(P=0.01). Comparing the PV, ET and PMF, the mutation in PV was higher than that in ET(P=0.01) and PMF(P<0.05). However, there was no statistically difference in mutation rate between ET and PMF (P=0.548). In PV patients, the white blood cell and platelet counting in JAK2V617F positive patients were significant higher than that in JAK2V617F negative patients(P<0.05). The white blood cell counting, peripheral hemoglobin level and thrombus odds in JAK2V617F positive mutation ET patients were statistically significant higher than that in JAK2V617F negative patients (P=0.004, P<0.05, P=0.015). In PMF patients, the white blood cell counting was higher in mutation positive group than that in negative group(P=0.04).There were no statistical differences in the percentage of splenomegaly and hepatomegaly, degree of secondary myelofibrosis and myeloproliferation between mutation positive and negative subgroup of PV,ET and IMF.Conclusions:(1) JAK2V617F mutation patients was detected in a large proportion of BCR-ABL negative MPD patients(91% in PV,62% in ET,56% in PMF), but none in BCR-ABL positive CML. (2) The JAK2V617F mutation rate in PV was significant higher than that in ET and PMF. (3) The JAK2V617F mutation was also detected in atypical MPD patient (1 in CNL), and its significance need to be further in-depth study. (4) The JAK2V617F mutation was only detected in myelogenous hemotopathy, but absent in lymphocytic diseases. (5) In classic MPD, including PV, ET and PMF, the white blood cell counting was higher in positive group than that in negative group. In PV, the plate counting was also found to be higher in mutation positive group. The ET mutation positive group had statistically significant higher hemoglobin level and thrombus odds than the negative group.