title: Mutation analysis of JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in Chinese patients with myeloproliferative neoplasms.
abstract: Since the discovery of JAK2V617F tyrosine kinase-activating mutation, several genes have been found mutated in myeloproliferative neoplasms (MPNs). FLT3-ITD, NPM1, and DNMT3A mutations frequently occurred in AML patients and have been found conferred with myeloproliferative neoplasms in mouse model. Therefore, we sought to search for mutations in JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in 129 cases including 120 classic MPN cases and 9 MDS/MPN cases. JAK2V617F mutation was found in 60% of the 120 classic MPNs. However, none of the patients displayed FLT3-ITD and NPM1 mutations; only 2 patients harbored DNMT3A R882 mutation. Further studies including whole-genome sequence will be conducted to investigate the possible involvement of these genes in MPN.
authors.affiliation: Department of Hematology, Qilu Hospital, Shandong University, 107 West Wenhua Road, Jinan 250012, China.
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.affiliation: Department of Hematology, Qilu Hospital, Shandong University, 107 West Wenhua Road, Jinan 250012, China.
authors.forename: Na
authors.initials: N
authors.lastname: He
authors.affiliation: Department of Hematology, Qilu Hospital, Shandong University, 107 West Wenhua Road, Jinan 250012, China.
authors.forename: Tian
authors.initials: T
authors.lastname: Tian
authors.affiliation: Department of Hematology, Qilu Hospital, Shandong University, 107 West Wenhua Road, Jinan 250012, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Hematology, Qilu Hospital, Shandong University, 107 West Wenhua Road, Jinan 250012, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Yu
authors.affiliation: Department of Hematology, Qilu Hospital, Shandong University, 107 West Wenhua Road, Jinan 250012, China.
authors.forename: Daoxin
authors.initials: D
authors.lastname: Ma
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D002681:China; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D000090205:DNA Methyltransferase 3A; D015254:DNA Modification Methylases; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: C000717967:DNMT3A protein, human; C000715535:Dnmt3a protein, mouse; C000716967:NPM1 protein, human; C000715570:Npm1 protein, mouse; D009687:Nuclear Proteins; D000090243:Nucleophosmin; D015254:DNA Modification Methylases; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3; C507924:JAK2 protein, human; D053614:Janus Kinase 2