title: [JAK2 V617F and exon 12 genetic variations in Korean patients with BCR/ABL1-negative myeloproliferative neoplasms].
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.
authors.affiliation: Department of Laboratory Medicine, Chonbuk National University Medical School, Jeonju, Korea.
authors.forename: Jeong Tae
authors.initials: JT
authors.lastname: Kim
authors.forename: Yong Gon
authors.initials: YG
authors.lastname: Cho
authors.forename: Sam Im
authors.initials: SI
authors.lastname: Choi
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Lee
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Kim
authors.forename: Sook Jin
authors.initials: SJ
authors.lastname: Jang
authors.forename: Dae Soo
authors.initials: DS
authors.lastname: Moon
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Park
authors.forename: Geon
authors.initials: G
authors.lastname: Park
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000378:metabolism*; D014644:Genetic Variation; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics*; D016017:Odds Ratio; D012150:Polymorphism, Restriction Fragment Length; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: D016044:Fusion Proteins, bcr-abl; D053614:Janus Kinase 2