The Expression And Clinical Relevance Of JAK2V617F And CALR Gene Mutations In BCR/ABL Fusion Gene Negative Bone Marrow Proliferative Tumors

Objective: Negative BCR/ABL myeloproliferative neoplasms(MPN)includes polycythemia vera(PV),essential thrombocythemia(ET)and primary myelofibrosis(PMF),which were often overlapped in laboratory characterwastics and clinical manifestations.Recently,JAK2V617 F,CALR,MPL gene mutation spectrum provided a new basis for the diagnosis and differential diagnosis of BCR/ABL negative MPN,and laid the foundation for the precision medicine of MPN.At present,the reported correlation between JAK2V617 F,CALR,MPL mutation and MPN was various.In this study,222 cases of BCR/ABL negative MPN were retrospectively analyzed by observing the correlation between JAK2V617 F,CALR,MPL mutation and clinical and laboratory characteristics,to provide basis for the differential diagnosis of this three kinds of diseases.Methods:222 MPN(PV ET PMF)cases with negative BCR/ABL for this study were selected at outpatient and hospitalization of The Second Hospital of He Bei Medical University from October 2014 to December2016.Collecting clinical dates,followed by analysis the correlation between JAK2V617 F,CALR,MPL mutation and clinical,laboratory features(including WBC,RBC,PLT,Hb,HCT,NAP score,biochemistry,bone marrow morphology,bone marrow histopathology,etc).All dates were analyzed by SPSS19.0.P<0.05 were used as statistically significant.Results:1 The expression of JAK2V617 F,CALR,MPL mutation in MPN patients1.1 General gene expression in MPN patients Among 222 BCR/ABL negative MPN patients.The total mutation rate was 70.3%.Mutation rate of JAK2V617 F,CALR,MPL was 58.6%,10.8%and 0.9% respectively.Negative mutations of all three genes was 29.7%.1.2 JAK2V617 F expression in MPN patients Mutation rate of JAK2V617 F in PV patients was 70.4%,in ET was50.7% and in PMF was 76.9%.1.3 CALR expression in MPN patients Mutation of CALR gene was all negative in PV patients.Mutation rate of CALR in ET was 14.8%,while the rate was 30% in JAK2V617 F negative ET patients.There were two types of CALR mutation were detected,including type ?(L367fs*46)and type ?(K385fs*47).The mutation rate of type I was 47.6% in ET patients,while the type ? was 52.4%.Mutation rate of CALR in PMF was 11.5%,while the rate was 50% in JAK2V617 F negative PMF patients.Two type I and one type II mutations were detected in PMF patients.1.4 MPL expression in MPN patients The incidence of MPL mutation was low,It was not detected in PV patients,and only two cases were positive in ET and PMF patients in all.The mutation of MPL in ET was W515 K,while in PMF was S505 N.2 The comparison of clinical features of JAK2V617 F gene mutation MPN2.1 The clinical characteristics of JAK2V617 F gene expression The age,RBC,WBC,PLT and NAP score were significantly higher in PV patients with positive JAK2V617 F mutation than those with negative one(P<0.05).The age,RBC,WBC,Hb and NAP score were significantly higher in ET patients with positive JAK2V617 F mutation than those with negative one(P<0.05).The WBC and NAP score were significantly higher in PMF patients with positive JAK2V617 F mutation than those with negative one(P<0.05).2.2 The comparison of clinical features of JAK2V617 F gene mutation in different MPN RBC and Hb were significantly higher,while Plt was significantly lower in PV patients with positive JAK2V617 F mutation than ET patients with positive JAK2V617 F mutation(P<0.05).RBC?Hb and PLT was significantly higher in PV patients with positive JAK2V617 F mutation than PMF patients with positive JAK2V617 F mutation(P<0.05).RBC?Hb and PLT was significantly higher in ET patients with positive JAK2V617 F mutation than PMF patients with positive JAK2V617 F mutation(P<0.05).2.3 The comparison of clinical features of JAK2V617 F gene mutation negative in different MPN RBC and Hb were significantly higher,while Plt was significantly lower in PV patients with negative JAK2V617 F mutation than ET patients with negative one(P<0.05).RBC and Hb was significantly higher in PV patients with negative JAK2V617 F mutation than PMF patients with negative JAK2V617 F mutation(P<0.05).RBC and PLT was significantly higher in ET patients with negative JAK2V617 F mutation than PMF patients with negative JAK2V617 F mutation(P<0.05).3 Comparison of clinical features of CALR gene mutation MPN patients RBC ? WBC and NAP score were significantly lower,while PLT was significantly higher in ET patients with positive CALR mutation than the ones with negative CALR mutation.Two types were detected,PLT was significantly lower in patients with CALR type I than CALR type II(P<0.05).NAP score was significantly lower in PMF patients with positive CALR mutation than the ones with negative CALR mutation(P<0.05).PLT and Hb were significantly higher in ET patients with positive CALR mutation than in PMF patients with positive CALR mutation(P<0.05).4 The clinical characteristics of JAK2V617 F and CALR gene were compared in MPN WBC?Hb and NAP scores were significantly higher,while PLT were significantly lower in ET patients with positive JAK2V617 F mutation than in ET patients with positive CALR mutation.PLT was significantly higher in ETpatients with positive CALR mutation than in the ones with negative JAK2/CALR/MPL mutation(P<0.05).Hb and NAP scores were significantly higher in PMF patients with positive JAK2V617 F mutation than in PMF patients with positive CALR mutation(P<0.05).Conclusion:1 CALR mutation was mainly found in ET and PMF patients,while was very few in PV patients.JAK2V617 F,CALR and MPL mutation existed independently.2 Patients with positive JAK2V617 F mutation had a higher RBC than patients with negative one.3 ET,PMF patients with positive JAK2V617 F mutation had a higher WBC ? RBC ? Hb and NAP scores than the ones with positive CALR mutation.ET patients with positive CALR mutation had a higher PLT than ET patients with positive JAK2V617 F mutation and negative JAK2/CALR/MPL mutation.