title: JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature.
abstract: The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV). The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies. About 20 kinds of novel mutations of JAK2 other than V617F have been reported recently in the literature. Among these mutations, only one case of JAK2 V617F/C618R has been reported in a 67-year-old patient with PV. Here, we report a rare case of JAK2 V617F/C618R in a 41-year-old Korean male patient with review of the relevant literature on JAK2 mutations other than V617F. Although the frequency of JAK2 mutations other than the V617F is very low, this study emphasizes the need for assiduous analysis of the JAK2 gene to characterize new mutations, to determine their frequency, and to improve understanding of the clinical phenotypes as well as prognostic and biologic features associated with these mutations.
authors.affiliation: Department of Laboratory Medicine, National Health Insurance Corporation Ilsan Hospital, Goyang-si, Kyonggi-do, 410-719, Korea.
authors.forename: Jong-Ha
authors.initials: JH
authors.lastname: Yoo
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Ho-Young
authors.initials: HY
authors.lastname: Maeng
authors.forename: Young-Kyu
authors.initials: YK
authors.lastname: Sun
authors.forename: Young-Ah
authors.initials: YA
authors.lastname: Kim
authors.forename: Jeong-Hae
authors.initials: JH
authors.lastname: Kie
authors.forename: Eun Hae
authors.initials: EH
authors.lastname: Cho
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Borum
authors.initials: B
authors.lastname: Suh
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
mesh_terms: D000328:Adult; D001483:Base Sequence; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D011087:Polycythemia Vera / Q000235:genetics* / Q000473:pathology
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2