CAJ | 학술논문

目的：探讨FLT3及C-kit基因突变在急性髓细胞白血病（AML）中的临床意义。方法回顾性分析南方医院2010年1月—2013年12月期间初诊 AML 患者的临床资料，PCR 分析 FLT3及 C-kit 基因突变情况。结果248例初诊 AML 患者中，FLT3-ITD 突变率为16.9％，TKD 突变率为3.2％，C-kit8号外显子突变率为1％，17号外显子突变率为5.2％；FLT3-ITD 突变更倾向发生于正常染色体核型的 AML 患者；FLT3突变阳性组及 C-kit 突变阳性组患者的外周血白细胞数高于基因突变阴性组，染色体核型正常患者的无病生存时间较阴性组缩短（P ＜0.05）。但是对血红蛋白、血小板及完全缓解率（CR 率）并无影响（P ＞0.05）。结论FLT3及 C-kit 突变的 AML 患者有较差的临床预后。
목적：탐토FLT3급C-kit기인돌변재급성수세포백혈병（AML）중적림상의의。방법회고성분석남방의원2010년1월—2013년12월기간초진 AML 환자적림상자료，PCR 분석 FLT3급 C-kit 기인돌변정황。결과248례초진 AML 환자중，FLT3-ITD 돌변솔위16.9％，TKD 돌변솔위3.2％，C-kit8호외현자돌변솔위1％，17호외현자돌변솔위5.2％；FLT3-ITD 돌변경경향발생우정상염색체핵형적 AML 환자；FLT3돌변양성조급 C-kit 돌변양성조환자적외주혈백세포수고우기인돌변음성조，염색체핵형정상환자적무병생존시간교음성조축단（P ＜0.05）。단시대혈홍단백、혈소판급완전완해솔（CR 솔）병무영향（P ＞0.05）。결론FLT3급 C-kit 돌변적 AML 환자유교차적림상예후。
Objective This study was to investigate the prognostic value of FLT3 and C-kit gene mutations in patients with acute myeloid leukemia (AML). Methods We retrospect and analyzed the data of the 248patients with newly diagnosed AML from January 2013 to December 2010.FLT3 and C-kit gene mutations was detected by Polymerase chain reaction (PCR).Results Among these 248 subjects,the FLT3-ITD mutation rate was 16.9%,FLT3-TKD was 3.2%,C-kit 8 exon mutation rate was 1% and 17exon mutationwas 5.2%.FLT3-ITD mutation likely occurred in AML patients with normal karyotype.The patients with FLT3-ITD mutation or C-kit mutation had significantly higher PWBC and shorter DFS than patients without gene mu-tations (P <0.05),but there was no significantly differences in sex,age,Hb,PLT and CR rate of the first course induction chemotherapy among groups (P >0.05). Conclusion Among patients with AML,FLT3-ITD and C-kit mutations were asso-ciated with worse prognosis.