BACKGROUND: @entity5 ( @entity5 ) are @entity2214 characterized by the overproduction of mature blood cells. The pathogenetic hallmark of @entity5 is the dysregulation of JAK-STAT signaling, usually associated with the @entity4016 @entity4017 mutation. Multiple additional genetic and epigenetic alterations that constitutively activate the JAK-STAT signaling pathway have been described, including the modulation of the microRNAs (miRs) expression levels. The aims of our study were to investigate @entity4016 @entity4017 mutation allele burden and @entity6957 expression levels in @entity5 @entity1 and to investigate the correlation between these genetic signatures and hematological parameters. METHODS: In total 78 @entity1 with a clinical diagnosis of @entity6582 vera (PV), @entity4407 ( @entity4407 ) and idiopathic @entity4018 (IM), made according to the WHO 2008 criteria, were included in the study. Twenty healthy subjects were checked as controls. Quantification of @entity4016 @entity4017 mutation and @entity6957 expression levels were determined by real-time quantitative polymerase chain reaction. RESULTS: The @entity6957 expression in @entity5 @entity1 was 2.97-fold higher than in controls. @entity4016 @entity4017 mutation allele burden and @entity6957 expression level resulted higher in PV and IM respect to @entity4407 @entity1 . @entity1 who had @entity4017 allele burden >50% displayed a higher miRNA-143 expression level than @entity1 with allele burden <50%. In @entity5 @entity1 , a statistically significant positive correlation was observed between @entity4016 @entity4017 mutation allele burden and hemoglobin and hematocrit values and between @entity6957 expression levels and platelet count. CONCLUSIONS: Our findings of aberrant @entity6957 expression support the concept that factors other than @entity4016 @entity4017 mutation may contribute to the pathogenesis and some clinical signs of @entity5 .

Role of @entity4016 XXXX mutation and aberrant expression of microRNA-143 in myeloproliferative @entity5 .

@entity2214 :: ('MESH:D007945', 'Disease') :: ['clonal myeloid disorders'] @entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity6582 :: ('MESH:D011086', 'Disease') :: ['polycythemia'] @entity5 :: ('MESH:D009369', 'Disease') :: ['MPNs', 'Myeloproliferative neoplasms'] @entity4016 :: ('3717', 'Gene') :: ['JAK2'] @entity4018 :: ('MESH:D055728', 'Disease') :: ['myelofibrosis'] @entity6957 :: ('406935', 'Gene') :: ['miR-143'] @entity4407 :: ('MESH:D013920', 'Disease') :: ['ET', 'essential thrombocythemia'] @entity4017 :: ('p|SUB|V|617|F', 'ProteinMutation') :: ['V617F']
@entity4017 :: (p|SUB|V|617|F,ProteinMutation) :: ['V617F']
