Detetion And Clinical Significance Of JAK2V617F Mutation In 92 Patients With Chronic Myeloproliferative Neoplasm

Objective To investigate the frequency of JAK2V617F mutation in 92patients with chronic myeloproliferative neoplasm(MPN) and to study the relationship between JAK2V617F mutation and clinical characteristics.Method The retrospective analysis of 92 MPN patients from August 24,2011 to September 29,2014 who were first treated by The First Affiliated Hospital of Dalian Medical university clinical data and laboratory test results were carried out. Among them there were 25 cases with polycythemia vera(PV),44 cases with essential thrombocytosis(ET),and 17 cases with primary myelofibrosis(PMF),6 cases of Chronic myeloid leukemia(CML). JAK2V617F mutation was screened by allele-specific polymerase chain reaction(AS-PCR) to detect in the MPN patients. To analyze the relationship between the JAK2V617F mutation with the MPN patients age、gender、 types of sample、chromosome、blood cell count、enlargement of the spleen and liver、 lactic dehydrogenase(LDH).Result J AK2 V617F mutation was detected in 67 of the 92 patients with MPN, total mutation rate of 72.82%. The frequency of JAK2V617F mutation was similar among ET and PMF (P>0.05), but it was significantly lower than that in PV(P<0.05). None of theCML patients had JAK2V617F mutation.PV patients with JAK2V617F mutation had more platelets than patients without it, ET patients with JAK2V617F mutation had more hemoglobin and red blood cells than patients without it, PMF patients with JAK2V617F mutation had more leukocytes than patients without it(P<0.01). Significant difference was found in gender and types of sample between JAK2V617 positive and negative patients(P<0.05), The frequency of JAK2V617F mutation positive was more higher than negative in peripheral blood and female. The association between abnormal karyotype, LDH, enlargement of the spleen and liver and J AK2V617F was not found, they were also no association found in PV、ET、PMF. Significant difference was not found between under the age of 60 and above. Abnormal karyotype of 7 patients was found in cytogenetical analysis of 75 patients,2 cases of patients (28.57%)with JAK2V617F mutation. The frequency of abnormal karyotype was 9.33%,14.29% of PV,71.43% of ET,14.29% of PMF. BCR/ ABL mutation was detected 4 patiens in 17 MPN patients whose JAK2V617F mutation negative and all were CML.Conclusion JAK2V617F mutation was detected among PVN ET and PMF, The frequency of JAK2V617F mutation PV higher than ET and PMF (P<0.05) It would be effective to make accurate diagnosis、differential diagnosis and early treated with targeted therapies of MPN for gene mutation of JAK2V617F. The method of Allele-specific PCR was reliably and useful for clinical use. The blood cell count was higher between JAK2V617F mutation positive and negative. The association between gender and types of sample with JAK2V617F mutation was found. Patients with BCR/ABL mutation was no detected JAK2V617F mutation positive.