Identification of <i>JAK2</i>(V617F) Mutation in Myeloproliferative Neoplasms by Using Allele Specific Polymerase Chain Reaction (AS-PCR)

• 作者: Aung Zaw Latt Khin La Pyae Tun San San Htwe San Yu Hlaing Sein Win Wai Wai Han Win Pa Pa Naing Win Win Mar Yamin Ko Ko
• 来源期刊: 美国分子生物学期刊(英文)
• 学科: 医学
• 关键词: Myeloproliferative Neoplasms JAK2 (V617F) Allele-Specific PCR
• 年，卷（期）: mgfzswxqkyw_2020,（4）
• 页码范围: 273-282
• 页数: 10页
• 分类号: R55

摘要

<p align="justify"> <span style="font-family:Verdana;"></span><span style="font-family:Verdana;"></span>Myeloproliferative neoplasms (MPNs) are a group of clonal haematopoietic stem cell disorders characterized by the proliferation of one or more myeloid cell lineages. According to WHO classification, the Janus associated kinase 2 (<em>JAK</em>2) V617F mutation is one of the major diagnostic criteria in BCR-ABL1 negative myeloproliferative neoplasms. The aim of this study is to detect the <em>JAK</em>2 (V617F) mutation in patients with myeloproliferative neoplasms to get accurate diagnosis and proper management. A total of 90 clinically diagnosed MPN patients attending to Department of Clinical Haematology, Yangon General Hospital were enrolled in this study. The mean age was 53.4 ± 14 years which ranged from 16 to 81 years old and male and female ratio was 2.4:1. The identification of <em>JAK</em>2 (V617F) point mutation was found to be positive in 44/90 MPN patients (48.9%). According to MPN subtypes, the <em>JAK</em>2 mutation positivity was found in 19 out of 46 polycythemia vera patients (41.3%), 17 out of 25 essential thrombocythemia patients (68%), 8 out of 15 primary myelofibrosis patients (53.3%), 0 of 4 others myeloproliferative neoplasms (0%). Confirmation of each of nine <em>JAK</em>2 mutation positive and negative samples was done by Sanger sequencing. The arterial or venous thrombotic attack was found in 32/44 <em>JAK</em>2 mutation positive cases (72.7%) and 12/44 <em>JAK</em>2 mutation negative cases (27.3%). The association between thrombotic attack and presence of <em>JAK</em>2 mutation was statistically significance with p = 0.000. The diagnosis of myeloproliferative neoplasms mainly relies on the molecular genetics according to WHO classification. The Allele specific PCR reaction is sensitive, simple test and relatively cost-effective. Therefore, the identification of <em>JAK</em>2 (V617F) somatic point mutation by AS-PCR should be implemented as a routine diagnosis procedure for patients wit