title: JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan.
abstract: JAK2V617F, a gain-of-function mutation in the tyrosine kinase JAK2, is frequently detected in classical myeloproliferative neoplasms (MPNs). In the present study, we determined the JAK2V617F allele burden in Japanese MPN patients using alternately binding probe competitive-polymerase chain reaction, a highly quantitative method recently developed by our group. Although we observed strong similarities in terms of epidemiological parameters associated with the JAK2V617F allele burden between our cohort and others, we found a higher JAK2V617F allele burden in Japanese polycythemia vera (PV) patients and lower frequencies of thrombosis in Japanese MPN patients compared with previous reports. In addition, despite the presence of high red blood cell counts, some patients bearing the JAK2V617F mutation were not diagnosed as PV, as their hemoglobin values were lower than the WHO PV criterion. In these patients, the JAK2V617F allele burden was strikingly similar to that in PV patients fulfilling the 2008 WHO criteria, suggesting that these patients can be classified as PV. Although isotopic measurement of red cell mass (RCM) is required for definitive diagnosis of PV, our data suggest that precise measurement of the JAK2V617F allele burden may improve the diagnosis of PV when RCM has not been determined.
authors.affiliation: Department of Hematology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Edahiro
authors.forename: Soji
authors.initials: S
authors.lastname: Morishita
authors.forename: Kochi
authors.initials: K
authors.lastname: Takahashi
authors.forename: Yumi
authors.initials: Y
authors.lastname: Hironaka
authors.forename: Yuriko
authors.initials: Y
authors.lastname: Yahata
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Sunami
authors.forename: Shuichi
authors.initials: S
authors.lastname: Shirane
authors.forename: Miyuki
authors.initials: M
authors.lastname: Tsutsui
authors.forename: Masaaki
authors.initials: M
authors.lastname: Noguchi
authors.forename: Michiaki
authors.initials: M
authors.lastname: Koike
authors.forename: Kiyotoshi
authors.initials: K
authors.lastname: Imai
authors.forename: Keita
authors.initials: K
authors.lastname: Kirito
authors.forename: Naohiro
authors.initials: N
authors.lastname: Noda
authors.forename: Yuji
authors.initials: Y
authors.lastname: Sekiguchi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Tsuneda
authors.forename: Akimichi
authors.initials: A
authors.lastname: Ohsaka
authors.forename: Marito
authors.initials: M
authors.lastname: Araki
authors.forename: Norio
authors.initials: N
authors.lastname: Komatsu
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005091:Exons; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D012737:Sex Factors; D055815:Young Adult
chemical_list: D006454:Hemoglobins; D005293:Ferritins; D053614:Janus Kinase 2