The study of JAK2 gene in essential thrombocythemia

• Main Authors: Hui-Hua Hsiao, 蕭惠樺
• Other Authors: Sheng-Fung Lin
• Format: Others
• Language: zh-TW
• Published: 2011
• Online Access: http://ndltd.ncl.edu.tw/handle/76882277538193806396

博士 === 高雄醫學大學 === 醫學研究所 === 99 === Essential thrombocythemia (ET) is one of the myeloid proliferative neoplasms with marked thrombocytosis and complications of thrombosis and/or bleeding events. The real pathomechanism of ET is still unknown. Recently, a novel finding of Janus kinase 2 (JAK2) mutation over V617F is noted on ET patients and further investigations also noted that the mutation is associated with special SNPs (single nucleotide polymorphism). Therefore, we enrolled our ET patients to study the JAK2 V617F status and the relationship with clinical presentations. We also investigated the relationship between JAK2 V617F and special SNP and the negative regulator of JAK2-STAT pathway. Of all 61 patients, 34 (55.7%) harbor JAK2 V617F, and the JAK2 V617F mutation was associated with leukocytosis, high hemoglobin level and increased thrombotic event significantly. We noted that special SNP was significantly associated with JAK2 V617F. The special G-allele of rs10974944 and the JAK2 V617F was highly linked. The results of Q-PCR (quantitative-polymerase chain reaction) also demonstrated significant difference between ET patients and normal individuals on SOCS and PIAS expressions. In summary, our study showed 55.7% of ET patients had JAK2 V617F and the mutation was associated with clinical presentations. The special SNP near JAK2 was also associated with the mutation, which might provide genetic mutation benefit or survival benefit of blood cells for progression of the disease. The regulatory mechanism also takes part in the pathomechanism of the development of ET. These results will help the understanding of ET for further investigations.