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本研究探讨c-KIT、FMS样酪氨酸激酶3(FLT3)、Janus激酶2(JAK2)在伴t(8;21)的急性髓系白血病(AML)患者的突变情况,及其与患者临床表现和预后的相关性。采用普通PCR扩增技术、等位基因PCR技术、酶切及序列测定等方法,分别检测8例初发、6例复发t(8;21)AML患者FLT3、JAK2、c-KIT突变。结果表明:在2/14例(14.3%)伴t(8;21)的AML患者中检测到c-KIT突变,其中1例为c-KITD816V,另1例为c-KITD816Y突变;在1/14例(7.1%)患者中检测到FLT3-ITD突变。在14例标本中均未检测到JAK2突变。结论:酪氨酸激酶突变与t(8;21)AML具有相关性,可能提示有较高复发率及髓外浸润,预后不良。筛查c-KIT、FLT3突变等对t(8;21)AML预后判断和治疗指导可能具有重要意义。
This study was to investigate the mutations of c-KIT, FLT3 and Janus kinase 2 (JAK2) in patients with acute myeloid leukemia (AML) with t (8; 21) Correlation between performance and prognosis. The mutations of FLT3, JAK2 and c-KIT were detected in 8 cases of primary and 6 recurrent t (8; 21) AML patients by ordinary PCR amplification, allele PCR, restriction enzyme digestion and sequencing. The results showed that c-KIT mutation was detected in 2/14 cases (14.3%) with AML (t = 8; 21), of which 1 case was c-KITD816V and the other 1 case was c-KITD816Y mutation. FLT3-ITD mutations were detected in 14 (7.1%) patients. No JAK2 mutation was detected in the 14 specimens. Conclusion: Mutation of tyrosine kinase is associated with t (8; 21) AML, which may indicate a higher recurrence rate and extramedullary infiltration with poor prognosis. Screening c-KIT, FLT3 mutations on t (8; 21) AML prognosis and treatment guidance may be of great significance.