CAJ | 학술논문

目的探讨我国成年伴NPM1基因突变的急性髓系白血病患者(NPMc+AML)的临床特点,初步探讨定期定性检测该突变在早期判断AML复发中的意义.方法采用聚合酶链反应(PCR)-毛细管电泳法对95例成年初治AML患者检测NPM1突变情况,并选取其中5例完全缓解患者定期检测该突变.结果 95例成年AML患者NPM1突变发生率为29.5%(28/95);≥40岁患者突变发生率[40.0%(22/55)]明显高于＜40岁患者[15.0%(6/40)](λ 2=6.963,P=0.012);正常核型AML患者突变发生率[51.1%(24/47)]明显高于异常核型患者[8.3%(4/48)](λ2=20.860,P=0.000).AML患者发生NPM1突变以M5[72.7%(16/22)]、M2[36.3%(8/22)]常见,在具有重现性染色体异常的AML中,未发现该突变.NPMc+AML患者白细胞、血小板计数及乳酸脱氢酶水平均明显高于NPMc-AML组(t值分别为4.132、4.603、4.069,均P＜0.05).NPMc+AML患者完全缓解率、无复发生存率及总生存率均明显高于NPMc-AML患者(λ2值分别为10.448、4.146、4.384,均P＜0.05).定期检测的患者血液学复发前1.5～2.0个月草新出现NPM1基因突变.结论 NPM1基因突变在成年AML患者中,尤其是正常核型AML患者中有较高的发生率,临床表现为患者年龄偏大,白细胞计数、血小板计数、乳酸脱氢酶均较高,NPM1基因突变是成年AML患者预后良好的指标.定期定性监测该突变可早期判断AML复发.
목적 탐토아국성년반NPM1기인돌변적급성수계백혈병환자(NPMc+AML)적림상특점,초보탐토정기정성검측해돌변재조기판단AML복발중적의의.방법 채용취합매련반응(PCR)-모세관전영법대95례성년초치AML환자검측NPM1돌변정황,병선취기중5례완전완해환자정기검측해돌변.결과 95례성년AML환자NPM1돌변발생솔위29.5%(28/95);≥40세환자돌변발생솔[40.0%(22/55)]명현고우＜40세환자[15.0%(6/40)](λ 2=6.963,P=0.012);정상핵형AML환자돌변발생솔[51.1%(24/47)]명현고우이상핵형환자[8.3%(4/48)](λ2=20.860,P=0.000).AML환자발생NPM1돌변이M5[72.7%(16/22)]、M2[36.3%(8/22)]상견,재구유중현성염색체이상적AML중,미발현해돌변.NPMc+AML환자백세포、혈소판계수급유산탈경매수평균명현고우NPMc-AML조(t치분별위4.132、4.603、4.069,균P＜0.05).NPMc+AML환자완전완해솔、무복발생존솔급총생존솔균명현고우NPMc-AML환자(λ2치분별위10.448、4.146、4.384,균P＜0.05).정기검측적환자혈액학복발전1.5～2.0개월초신출현NPM1기인돌변.결론 NPM1기인돌변재성년AML환자중,우기시정상핵형AML환자중유교고적발생솔,림상표현위환자년령편대,백세포계수、혈소판계수、유산탈경매균교고,NPM1기인돌변시성년AML환자예후량호적지표.정기정성감측해돌변가조기판단AML복발.
Objective To evaluate the clinical feature of adult acute myeloid leukemia with nucleophosmin (NPM1) cytoplastic positive (NPMc+AML), and to investigate the significance of the NPM1 gene mutations regularly in detecting the early relapse. Methods The NPM1 gene mutations was screened by the PCR-capillary electrophoresis in 95 newly diagnosed adult AML patients. 5 complete remission AML patients were selected to detecte the NPM1 gene mutations regularly. Results In 95 cases of adult AML patients, the incidence of the NPM1 mutations was 9.5 % (28/95). The incidence of the NPM1 mutations in patients (≥40-year-old) was higher clearly than it' s in pazients (40-year-old) (λ 2= 6.963, P = 0.012). That in the AML patients with normal karyotype (51.1%) was higher than that in the patients with abnormal karyotype (8.3 %) (λ2= 20.860, P= 0.0000). NPM1 mutations occured with a considerate percentage in AML patients with M5/M2 subtype. In AML with recurrent genetic abnormalities the NPM1 mutations wasn' t found.The white blood cell count, platelet count, lactate dehydrogenase in the NPMc+AML patients were clearly higher than that in the NPMc-AML patients (t were individually 4.132, 4.603, 4.069, P ＜0.05). The rate of complete remission, relapse-free survival and overall survival in the NPMc+AML patients were also higher than that in the N PMc-AML patients (λ 2 were individually 10.448, 4.146, 4.384, P ＜0.05). In cases detected regularly NPM1 mutations preceded the hematological relapse about 1.5-2 months. Conclusion NPM1 gene mutations has a higher incidence in adult AML, particularly in normal karyotype AML. The clinical manifestations are older, and higher in white blood cell count, platelet count, and lactate dehydrogenase. The NPM1 mutations in adult AML is a good factor for prognosis. The regular detection of NPM1 mutation could find relapse early.