成人急性T淋巴细胞白血病JAK1基因突变

JAK1 gene mutation in patients with adult acute T lymphoblastic leukemia

目的分析成人急性T淋巴细胞白血病(T-ALL)患者骨髓细胞JAK1基因突变特征。方法提取骨髓单个核细胞总DNA,采用PCR及直接测序方法分析40例初诊的成人T-ALL患者骨髓单个核细胞JAK1基因的全部外显子的突变。结果 40例T-ALL患者中,JAK1突变2例(5%),分别为点突变及插入突变,导致氨基酸序列发生变化,且这两种突变类型均位于国外文献未报道过的外显子区域。结论初诊成人急性T淋巴细胞白血病中,JAK1基因突变率为5%左右,低于国外报道。

Objective To analyze the mutations of JAK1 gene in bone marrow cells from adult patients with newly-diagnosed T cell acute lymphoblastic leukemia （T-ALL）. Methods The entire coding sequence of JAK1 in bone marrow mononuclear cells （MNCs） from 40 adult T-ALL patients were screened by polymerase chain reaction （PCR） and direct sequencing. The clinical features of JAK1 mutation positive patients were analyzed. Results JAK1 mutations were identified in 5 %（2/40） patients,of whom one was point mutation and the other was insertion mutation, resulting in the changes in amino acid sequences. The two types of mutations in this group were different from those found before. Conclusion The incidence rate of JAK1 mutations is 5% in this group of patients with newly-diagnosed T-ALL, which is lower than that reported abroad.