Korean J Lab Med.  2010 Dec;30(6):567-574. 10.3343/kjlm.2010.30.6.567.

JAK2 V617F and Exon 12 Genetic Variations in Korean Patients with BCR/ABL1-negative Myeloproliferative Neoplasms

• Kim JT
• Cho YG
• Choi SI
• Lee YJ
• Kim HR
• Jang SJ
• Moon DS
• Park YJ
• Park G

• KMID: 1781660
• DOI: http://doi.org/10.3343/kjlm.2010.30.6.567

Abstract

BACKGROUND
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.
METHODS
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.
RESULTS
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<0.05). However, c.1641+179_183del5 was not related to age, sex, or complete blood cell count parameters in V617F-negative MPN patients and healthy subjects. The c.1641+179_183del5 was associated with an increased odds ratio for MPN (odds ratio, 2.6; 95% confidences interval, 1.3-5.1; P=0.007).
CONCLUSIONS
Frequencies of V617F are similar to reported results. JAK2 exon 12 mutations may be rare and c.1641+179_183del5 may influence the occurrence of MPN in Korean patients with V6 17F-negative MPN.

Keyword

Myeoloproliferative neoplasms; JAK2; V617F; Exon 12; rs56241661

MeSH Terms

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/*genetics
Odds Ratio
Polymorphism, Restriction Fragment Length
Republic of Korea
Sequence Analysis, DNA