title: 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.
authors.affiliation: Department of Laboratory Medicine, Eulji General Hospital, Eulji University School of Medicine, 280-1 Hagye-dong, Nowon-gu, Seoul, 139-872, South Korea.
authors.forename: Young-Uk
authors.initials: YU
authors.lastname: Cho
authors.affiliation: Department of Laboratory Medicine, College of Medicine and Asan Medical Center, University of Ulsan, 388-1 Poongnap-dong, Songpa-gu, Seoul, 138-736, South Korea. hschi@amc.seoul.kr.
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Chi
authors.affiliation: Department of Laboratory Medicine, College of Medicine and Asan Medical Center, University of Ulsan, 388-1 Poongnap-dong, Songpa-gu, Seoul, 138-736, South Korea.
authors.forename: Eun-Hye
authors.initials: EH
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, College of Medicine and Asan Medical Center, University of Ulsan, 388-1 Poongnap-dong, Songpa-gu, Seoul, 138-736, South Korea.
authors.forename: Seongsoo
authors.initials: S
authors.lastname: Jang
authors.affiliation: Department of Laboratory Medicine, College of Medicine and Asan Medical Center, University of Ulsan, 388-1 Poongnap-dong, Songpa-gu, Seoul, 138-736, South Korea.
authors.forename: Chan-Jeoung
authors.initials: CJ
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, College of Medicine and Asan Medical Center, University of Ulsan, 388-1 Poongnap-dong, Songpa-gu, Seoul, 138-736, South Korea.
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009504:Neutrophils / Q000473:pathology; D010641:Phenotype; D013920:Thrombocythemia, Essential / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D013927:Thrombosis; D055815:Young Adult
chemical_list: D053614:Janus Kinase 2