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JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature

Authors
 Jong-Ha Yoo  ;  Tae Sung Park  ;  Ho-Young Maeng  ;  Young-Kyu Sun  ;  Young-Ah Kim  ;  Jeong-Hae Kie  ;  Eun Hae Cho  ;  Jaewoo Song  ;  Kyung-A Lee  ;  Borum Suh  ;  Jong Rak Choi 
Citation
 CANCER GENETICS AND CYTOGENETICS , Vol.189(1) : 43-47, 2009 
Journal Title
 CANCER GENETICS AND CYTOGENETICS 
ISSN
 0165-4608 
Issue Date
2009
MeSH
Adult ; Base Sequence ; Humans ; Janus Kinase 2/genetics* ; Male ; Molecular Sequence Data ; Point Mutation/genetics* ; Polycythemia Vera/genetics* ; Polycythemia Vera/pathology
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
Full Text
http://www.sciencedirect.com/science/article/pii/S0165460808005426
DOI
10.1016/j.cancergencyto.2008.09.010
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Maeng, Ho Young(맹호영)
Park, Tae Sung(박태성)
Sun, Young Kyu(선영규)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/103444
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