JAK2 V617F and exon 12 genetic variations in Korean patients with BCR/ABL1-negative myeloproliferative neoplasms

JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients wit...

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Bibliographic Details
Published in:Taehan Chindan Kŏmsa Ŭihakhoe chi 2010-12, Vol.30 (6), p.567-574
Main Authors: Kim, Jeong Tae, Cho, Yong Gon, Choi, Sam Im, Lee, Young Jin, Kim, Hye Ran, Jang, Sook Jin, Moon, Dae Soo, Park, Young Jin, Park, Geon
Format: Article
Language:Korean
Subjects:
Adolescent
Adult
Age Factors
Aged
Aged, 80 and over
Alleles
Amino Acid Substitution
Asian Continental Ancestry Group - genetics
Child
Exons
Female
Fusion Proteins, bcr-abl - metabolism
Genetic Variation
Humans
Janus Kinase 2 - genetics
Male
Middle Aged
Myeloproliferative Disorders - diagnosis
Myeloproliferative Disorders - genetics
Odds Ratio
Polymorphism, Restriction Fragment Length
Republic of Korea
Sequence Analysis, DNA
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Summary:JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN. We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively. We performed allele-specific PCR to detect V617F in all BCR/ABL1-negative patients, and performed direct sequencing to detect exon 12 variations in 47 V617F-negative MPN patients. JAK2 c.1641+179_183del5 variation was detected by restriction fragment length polymorphism assay in 176 healthy subjects. JAK2 V617F was detected in 91 patients (59.1%): PV (91.6%), PMF (46.2%), ET (52.8%), and MPNU (66.7%). In V617F-negative MPN patients, no mutations were found in exon 12. The c.1641+179_183del5 was detected in 68.1% of V617F-negative MPN patients and 45.4% of healthy subjects (P=0.008). JAK2 V617F was closely correlated with age and leukocytosis in BCR/ABL1-negative MPN patients (P
ISSN:1598-6535
DOI:10.3343/kjlm.2010.30.6.567