台灣骨髓纖維化患者基因特徵

Genetic characteristics of Myelofibrosis patients in Taiwan

骨髓纖維化（Myelofibrosis,MF）是一種骨髓增生性腫瘤（myeloproliferative neoplasms ; MPNs），主要三種驅動基因突變Janus activated kinase 2（JAK2）、Calreticulin（CALR）、Myeloproliferative Leukemia Virus Oncogene（MPL）及少部分其他基因突變造成的造血細胞異常增生，過程中釋放出數種細胞激素及生長激素，導致骨髓產生纖維化的變化。收集的台灣96位骨髓纖維化症患者發現JAK2 p.V617F約占61%、CALR frameshift突變22%、MPL突變10%、三陰性7%。CALR frameshift突變患者中年齡明顯低於其他基因所造成骨髓纖維化患者。CALR frameshift mutant病人性別比例相較我們之前做的台灣原發性血小板增多症女性高於男性不同，而是男性高於女性。三個驅動基因的VAF隨著疾病的嚴重程度而增加。

Myelofibrosis (MF) is one of the myeloproliferative neoplasms. The primary cause of Myelofibrosis is the overproduction of hematopoietic cells due to the mutations of the JAK2, CALR, or MPL genes. We collected 96 patients with Myelofibrosis in Taiwan. Our results showed JAK2 V617F mutation was found in 61%; CALR mutation in 22%; MPL mutation in 10% and triple-negative patients in 7% of our MF cohort. Patients with CALR frameshift mutations were significantly younger than patients with myelofibrosis caused by other genes; And males are higher than females. VAF of the three driver genes increased with disease severity.