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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 characteristics of JAK1 gene mutation in bone marrow cells of adult patients with acute lymphoblastic leukemia (T-ALL). Methods The total DNA of bone marrow mononuclear cells was extracted. The mutations of all exons of JAK1 gene in 40 newly diagnosed adult T-ALL patients were analyzed by PCR and direct sequencing. Results In 40 T-ALL patients, JAK1 mutations were found in 2 cases (5%), which were point mutations and insertional mutations, respectively, resulting in changes in amino acid sequence. Both of these mutations were located in exon regions not reported in foreign literature . Conclusion Initial diagnosis of acute lymphoblastic leukemia in adults, JAK1 gene mutation rate of about 5%, lower than the foreign reports.