Comparison of clinicopathologic findings according to JAK2 V617F mutation in patients with essential thrombocythemia

Abstract

The JAK2 V617F mutation is present in most patients with polycythemia vera, but in fewer patients with essential thrombocythemia (ET). We have assessed the frequency of this mutation in ET patients using amplification refractory mutation system PCR and determined the relationship of the mutation with disease phenotypes. Clinical-laboratory findings and histomorphological features were compared according to mutational status in 108 ET patients. The mutation was detected in 61 patients (56.5%) including one homozygous patient. Those with the mutation had significantly higher leukocyte (P = 0.003) and neutrophil (P = 0.007) counts. However, the incidences of thrombotic events and progression to advanced stages did not differ significantly between patients with and without the mutation. Thrombotic events were significantly correlated with older age (P = 0.025). Morphological analysis revealed that erythroid hypoplasia was exclusively found in the mutation-negative patients (P = 0.027). We could confirm previous findings of higher leukocyte count in ET patients with JAK2 mutation, but could not find any correlation with thrombotic events. Therefore, the detection of the mutation could characterize a subset of ET patients with distinct phenotype, despite its clinical significance being still undetermined.

Association Between Soluble CD40L with Thrombosis Occurrence and JAK2 V617F Mutation in Essential Thrombocythemia

“…However, the present study results indirectly support the concept that the JAK2V617F mutation contributes to intrinsic changes in both megakaryocyte and platelet biology beyond the increase in cell numbers [35][36][37]. The results of another single center analyses also revealed that the JAK2 V617F (−) cases did not differ significantly from the JAK2 V617F (+) cases in the incidence of thrombosis [38][39][40]. The number of involved patients might be determinative in view of clear evaluation of the predictive value of the JAK2 V617F mutation in thrombosis [41,42].…”

Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis

“…Korean patients with MPN had similar frequencies of JAK2 mutation and occurrence of vascular events as compared to Western patients (Bang et al. , 2009; Cho et al. , 2009).…”

“…The lower frequency of JAK2 V617F mutation in our data as compared with previous studies (Table 2) is hard to explain. Korean patients with MPN had similar frequencies of JAK2 mutation and occurrence of vascular events as compared to Western patients (Bang et al, 2009;Cho et al, 2009). However, the patterns of vascular events revealed notable differences; a very low incidence of venous thrombosis including SVT, more prevalent cerebrovascular events, and frequent serious bleeding complications at the time of diagnosis (Bang et al, 2009).…”

Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic era

“…60 Other series in adults also showed that the presence of JAK2 mutation did not have a significant impact on the risk of thrombosis or lost its predictive value when other variables were controlled for in the analysis. 61–66 A glaring common denominator of all these studies is the small sample size, which weakens the strength of conclusions.…”