Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias
Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias
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DOI：
10.1046/j.1365-2141.2003.04362.x
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发表时间：
2003-06-01
影响因子：
6.5
通讯作者：
Reilly, JT
中科院分区：
文献类型：
--
作者：
Care, RS;Valk, PJM;Reilly, JT
对110例成人急性髓性白血病（AML）患者的DNA进行了筛选，检测c-KIT（外显子8和Asp816）和FLT3 （ITD和Asp835）基因的突变。这些患者表现为inv(16) （n = 63）或t(8;21) （n = 47）。c-KIT外显子8突变在15/63 (23.8%)inv（16）患者和1/47 (2.1%)t（8;21）患者中发现。c-KIT Asp816突变存在于5/63 (7.9%)inv(16) AML和5/47 (10.6%)t(8;21) AML中。在5例（7.9%）inv（16）患者和3例（5.6%）t(8;21) AML患者中发现FLT3突变。所有的突变都是相互排斥的；40%的inv(16) AML患者具有c-KIT或FLT3突变。c-KIT外显子8突变是影响复发率的重要因素。
DNA from 110 adult de novo acute myeloid leukaemia (AML) patients exhibiting either inv(16) (n = 63) or t(8;21) (n = 47) was screened for mutations in the c-KIT (exon 8 and Asp816) and FLT3 (ITD and Asp835) genes. c-KIT exon 8 mutations were found in 15/63 (23.8%) inv(16) patients and 1/47 (2.1%) t(8;21) patients. c-KIT Asp816 mutations were present in 5/63 (7.9%) inv(16) AML and 5/47 (10.6%) t(8;21) AML. FLT3 mutations were identified in five patients (7.9%) with inv(16) and three patients (5.6%) with t(8;21) AML. All mutations were mutually exclusive; 40% of inv(16) AML patients possessed either a c-KIT or FLT3 mutation. c-KIT exon 8 mutations were shown to be a significant factor adversely affecting relapse rate.