Mutation Analysis of JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in Chinese Patients with Myeloproliferative Neoplasms | Zendy

Min Wang | Zendy; Na He | Zendy; Tian Tian | Zendy; Lu Liu | Zendy; Shuang Yu | Zendy; Daoxin Ma | Zendy

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Mutation Analysis of JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in Chinese Patients with Myeloproliferative Neoplasms

Author(s) -

Min Wang,

Na He,

Tian Tian,

Lu Liu,

Shuang Yu,

Daoxin Ma

Publication year - 2014

Publication title -

biomed research international

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.772

H-Index - 126

eISSN - 2314-6141

pISSN - 2314-6133

DOI - 10.1155/2014/485645

Subject(s) - npm1 , mutation , myeloproliferative disorders , cancer research , fms like tyrosine kinase 3 , gene , biology , mutation frequency , oncology , polycythemia vera , genetics , medicine , karyotype , chromosome

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.

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