JAK2 V617F and Exon 12 Genetic Variations in Korean Patients with BCR/ABL1-negative Myeloproliferative Neoplasms.
10.3343/kjlm.2010.30.6.567
- Author:
Jeong Tae KIM
1
;
Yong Gon CHO
;
Sam Im CHOI
;
Young Jin LEE
;
Hye Ran KIM
;
Sook Jin JANG
;
Dae Soo MOON
;
Young Jin PARK
;
Geon PARK
Author Information
1. Department of Laboratory Medicine, Chonbuk National University Medical School, Jeonju, Korea.
- Publication Type:Original Article ; English Abstract ; Research Support, Non-U.S. Gov't
- Keywords:
Myeoloproliferative neoplasms;
JAK2;
V617F;
Exon 12;
rs56241661
- MeSH:
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
- From:The Korean Journal of Laboratory Medicine
2010;30(6):567-574
- CountryRepublic of Korea
- Language:Korean
-
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.
