Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera.

摘要: After accounting for misdiagnosis and treatment effect, allele-specific (AS)-PCR detects the JAK2V617F mutation in >95% of polycythemia vera (PV) patients. Using database inquiry, we identified 6 a total 220 cases with PV that were JAK2V617F-negative (prevalence=3%). Of these, five (∼80%) found to harbor one two JAK2 exon 12 mutations (F537-K539delinsL or N542-E543del) bone marrow (BM) and/or peripheral blood cells. Similar screening six additional – three each idiopathic erythrocytosis (IE) otherwise unexplained (UE) did not reveal either mutations. We be readily detected by both DNA sequencing AS-PCR, regardless whether BM cells used as source DNA. Although erythroid hyperplasia was predominant histologic feature on examination, megakaryocyte abnormalities reticulin fibrosis noted most patients harboring However, similar morphologic changes can also seen some JAK2V617F-positive cases; therefore, distinct genotype–phenotype association cannot established.