中华血液学杂志
中華血液學雜誌
중화혈액학잡지
Chinese Journal of Hematology
2010年
5期
315-318
,共4页
主鸿鹄%江滨%卢锡京%江倩%江浩%鲍立%张晓辉%路瑾%阮国瑞%赖悦云%刘艳荣%黄晓军
主鴻鵠%江濱%盧錫京%江倩%江浩%鮑立%張曉輝%路瑾%阮國瑞%賴悅雲%劉豔榮%黃曉軍
주홍곡%강빈%로석경%강천%강호%포립%장효휘%로근%원국서%뢰열운%류염영%황효군
白血病,非淋巴细胞,急性%基因,NPM1%DNA突变分析%核型分析
白血病,非淋巴細胞,急性%基因,NPM1%DNA突變分析%覈型分析
백혈병,비림파세포,급성%기인,NPM1%DNA돌변분석%핵형분석
Leukemia,nonlymphocytic,acute%Gene,NPM1%DNA mutational analysis%Karyotyping
目的 研究伴有NPM1基因突变的急性髓系白血病(AML)患者的临床特点.方法 采用实时定量PCR方法对206例初诊AML患者进行NPM1基因突变(包括A、B、D三种最常见类型)检测.结果 NPM1突变阳性患者占所有AML患者的15.5%,占正常核型AML患者的32.5%.NPM1基因突变定量中位值为23.2%(2.3%～140.8%).32例NPM1突变阳性和174例NPM1突变阴性患者相比,初诊时中位年龄(46岁和35岁,P＜0.01)、WBC(27×109/L和8×109/L,P＜0.01)、BPC(82×109/L和36×109/L,P＜0.01)、AML-M5比例(31.2%和5.8%,P＜0.01)、染色体正常核型比例(92.6%和40.8%,P＜0.01)、伴有FLT3-ITD突变阳性患者的比例(25.0%和7.5%,P＜0.01)、免疫表型CD34阳性患者比例(23.3%和69.5%,P＜0.01)、伴有特异性融合基因患者的比例(0和47.1%,P＜0.01)等指标差异均有统计学意义.而在性别比例、骨髓原始细胞比例、完全缓解率、总体生存率方面差异无统计学意义(P＞0.05).NPM1突变阳性伴FLT3-ITD阴性患者比NPM1突变阳性伴FLT3-ITD阳性患者无复发生存率有提高趋势.结论 对初诊时高白细胞计数、血小板计数不低、CD34阴性表型和正常核型AML患者检测NPM1和FLT3-ITD突变,有利于分子分型和指导治疗.
目的 研究伴有NPM1基因突變的急性髓繫白血病(AML)患者的臨床特點.方法 採用實時定量PCR方法對206例初診AML患者進行NPM1基因突變(包括A、B、D三種最常見類型)檢測.結果 NPM1突變暘性患者佔所有AML患者的15.5%,佔正常覈型AML患者的32.5%.NPM1基因突變定量中位值為23.2%(2.3%～140.8%).32例NPM1突變暘性和174例NPM1突變陰性患者相比,初診時中位年齡(46歲和35歲,P＜0.01)、WBC(27×109/L和8×109/L,P＜0.01)、BPC(82×109/L和36×109/L,P＜0.01)、AML-M5比例(31.2%和5.8%,P＜0.01)、染色體正常覈型比例(92.6%和40.8%,P＜0.01)、伴有FLT3-ITD突變暘性患者的比例(25.0%和7.5%,P＜0.01)、免疫錶型CD34暘性患者比例(23.3%和69.5%,P＜0.01)、伴有特異性融閤基因患者的比例(0和47.1%,P＜0.01)等指標差異均有統計學意義.而在性彆比例、骨髓原始細胞比例、完全緩解率、總體生存率方麵差異無統計學意義(P＞0.05).NPM1突變暘性伴FLT3-ITD陰性患者比NPM1突變暘性伴FLT3-ITD暘性患者無複髮生存率有提高趨勢.結論 對初診時高白細胞計數、血小闆計數不低、CD34陰性錶型和正常覈型AML患者檢測NPM1和FLT3-ITD突變,有利于分子分型和指導治療.
목적 연구반유NPM1기인돌변적급성수계백혈병(AML)환자적림상특점.방법 채용실시정량PCR방법대206례초진AML환자진행NPM1기인돌변(포괄A、B、D삼충최상견류형)검측.결과 NPM1돌변양성환자점소유AML환자적15.5%,점정상핵형AML환자적32.5%.NPM1기인돌변정량중위치위23.2%(2.3%～140.8%).32례NPM1돌변양성화174례NPM1돌변음성환자상비,초진시중위년령(46세화35세,P＜0.01)、WBC(27×109/L화8×109/L,P＜0.01)、BPC(82×109/L화36×109/L,P＜0.01)、AML-M5비례(31.2%화5.8%,P＜0.01)、염색체정상핵형비례(92.6%화40.8%,P＜0.01)、반유FLT3-ITD돌변양성환자적비례(25.0%화7.5%,P＜0.01)、면역표형CD34양성환자비례(23.3%화69.5%,P＜0.01)、반유특이성융합기인환자적비례(0화47.1%,P＜0.01)등지표차이균유통계학의의.이재성별비례、골수원시세포비례、완전완해솔、총체생존솔방면차이무통계학의의(P＞0.05).NPM1돌변양성반FLT3-ITD음성환자비NPM1돌변양성반FLT3-ITD양성환자무복발생존솔유제고추세.결론 대초진시고백세포계수、혈소판계수불저、CD34음성표형화정상핵형AML환자검측NPM1화FLT3-ITD돌변,유리우분자분형화지도치료.
Objective To investigate the clinical characteristics of newly diagnosed acute myeloid leukemia (AML) with NPM1 mutation. Methods NPM1 mutation(including A,B,D mutation type) was detected in 206 patients with newly diagnosed AML by real-time quantitative RT-PCR. Results The incidence of NPM1 mutation was 15.5% in total AML patients and 32.5% in normal karyotypes AML patients.The characteristics of 174 NPM1 wild type patients v. s. that of 32 NPM1 mutation patients was as follow, median age(46 vs 35 years old, P＜0.01 ), WBC counts (27 × 109/L vs 8 × 109/L, P ＜0.01 ), BPC(82 ×109/L vs 36 × 109/L, P ＜0.01 ), proportion of AML-M5 (31.2% vs 5.8%, P =0.01 ), incidence of normal karyotypes(92.6% vs 40.8%, P ＜ 0.01 ), incidence of FLT3-ITD-positive ( 25.0% vs 7.5%, P ＜ 0.01 ),C D34-positvie (23.3% vs 69.5 %, P ＜ 0.01 ), cases with fusion gene ( 0 vs 47.1%, P ＜ 0. 0 1 ). No statistic difference was found in sex, percentage of blasts in bone marrow, complete remission rate, overall survival between the two groups. Relapse-free survival in AML patients with NPM1-mutation and FLT3-ITD-negative tended to be higher than in those with NPM1-mutation and FLT3-ITD-positive. Conclusion It is necessary to detect NPM1 mutation and FLT3-ITD in newly diagnosed AML patients, especially in patients with high WBC and BPC, CD34 -negative, normal karyotype, which might help to molecular classification and treatment.
