中国综合临床
中國綜閤臨床
중국종합림상
CLINICAL MEDICINE OF CHINA
2015年
7期
589-592
,共4页
吴继颖%马建华%范进婷%赵芳%冯雅青
吳繼穎%馬建華%範進婷%趙芳%馮雅青
오계영%마건화%범진정%조방%풍아청
急性髓系白血病%非淋巴细胞%基因%核仁磷酸蛋白1,FLT3-ITD%DNA突变分析
急性髓繫白血病%非淋巴細胞%基因%覈仁燐痠蛋白1,FLT3-ITD%DNA突變分析
급성수계백혈병%비림파세포%기인%핵인린산단백1,FLT3-ITD%DNA돌변분석
Leukemia%Nonlymphoeytic%Gene%Nucleophosmin 1%FLT3-ITD%DNA mutational analysis
目的 探讨伴有NPM1和FLT3-ITD基因突变急性髓系白血病(AML)患者的临床特点及其与疗效的关系.方法 采用PCR-毛细管电泳法对67例初诊AML患者进行NPM1基因突变和FLT3-ITD基因突变检测,并分析与疗效的关系.结果 NPM1突变阳性患者占所有AML患者的10.4％(7/67),占核型正常AML患者的26.1％ (6/23);FLT3-ITD基因突变阳性占所有AML患者的10.4％(7/67),占核型正常AML患者的17.4％(4/23).NPM1突变阳性患者和NPM1突变阴性患者相比,初诊时血小板计数(54.0× 109/L和27.5×109/L)差异有统计学意义(P＜0.01),AML-M5比例(57.1％与23.3％,P＜0.01)、CD34阳性患者比例(28.6％与63.3％)、染色体核型正常比例(85.7％与28.3％)、伴有特殊融合基因患者的比例(0和48.3％)、伴有FLT3-ITD突变阳性患者的比例(28.6％与8.3％)等指标差异均有统计学意义(P均＜0.01),在就诊时白细胞数、骨髓原始细胞比例、中位年龄、性别比例和完全缓解率方面差异无统计意义(P均＞0.05).而FLT3-ITD基因突变阳性患者就诊时白细胞数(26.9×109/L与8.1×109/L,P=0.013)和骨髓原始细胞比例(90％和76％,P=0.014)明显高于阴性患者.单独NPM1突变预后较好,但当合并FLT3-ITD突变时预后较差.结论 对初诊时核型正常AML患者检测NPM1和FLT3-ITD基因突变,有利于预后评估和指导治疗.
目的 探討伴有NPM1和FLT3-ITD基因突變急性髓繫白血病(AML)患者的臨床特點及其與療效的關繫.方法 採用PCR-毛細管電泳法對67例初診AML患者進行NPM1基因突變和FLT3-ITD基因突變檢測,併分析與療效的關繫.結果 NPM1突變暘性患者佔所有AML患者的10.4％(7/67),佔覈型正常AML患者的26.1％ (6/23);FLT3-ITD基因突變暘性佔所有AML患者的10.4％(7/67),佔覈型正常AML患者的17.4％(4/23).NPM1突變暘性患者和NPM1突變陰性患者相比,初診時血小闆計數(54.0× 109/L和27.5×109/L)差異有統計學意義(P＜0.01),AML-M5比例(57.1％與23.3％,P＜0.01)、CD34暘性患者比例(28.6％與63.3％)、染色體覈型正常比例(85.7％與28.3％)、伴有特殊融閤基因患者的比例(0和48.3％)、伴有FLT3-ITD突變暘性患者的比例(28.6％與8.3％)等指標差異均有統計學意義(P均＜0.01),在就診時白細胞數、骨髓原始細胞比例、中位年齡、性彆比例和完全緩解率方麵差異無統計意義(P均＞0.05).而FLT3-ITD基因突變暘性患者就診時白細胞數(26.9×109/L與8.1×109/L,P=0.013)和骨髓原始細胞比例(90％和76％,P=0.014)明顯高于陰性患者.單獨NPM1突變預後較好,但噹閤併FLT3-ITD突變時預後較差.結論 對初診時覈型正常AML患者檢測NPM1和FLT3-ITD基因突變,有利于預後評估和指導治療.
목적 탐토반유NPM1화FLT3-ITD기인돌변급성수계백혈병(AML)환자적림상특점급기여료효적관계.방법 채용PCR-모세관전영법대67례초진AML환자진행NPM1기인돌변화FLT3-ITD기인돌변검측,병분석여료효적관계.결과 NPM1돌변양성환자점소유AML환자적10.4％(7/67),점핵형정상AML환자적26.1％ (6/23);FLT3-ITD기인돌변양성점소유AML환자적10.4％(7/67),점핵형정상AML환자적17.4％(4/23).NPM1돌변양성환자화NPM1돌변음성환자상비,초진시혈소판계수(54.0× 109/L화27.5×109/L)차이유통계학의의(P＜0.01),AML-M5비례(57.1％여23.3％,P＜0.01)、CD34양성환자비례(28.6％여63.3％)、염색체핵형정상비례(85.7％여28.3％)、반유특수융합기인환자적비례(0화48.3％)、반유FLT3-ITD돌변양성환자적비례(28.6％여8.3％)등지표차이균유통계학의의(P균＜0.01),재취진시백세포수、골수원시세포비례、중위년령、성별비례화완전완해솔방면차이무통계의의(P균＞0.05).이FLT3-ITD기인돌변양성환자취진시백세포수(26.9×109/L여8.1×109/L,P=0.013)화골수원시세포비례(90％화76％,P=0.014)명현고우음성환자.단독NPM1돌변예후교호,단당합병FLT3-ITD돌변시예후교차.결론 대초진시핵형정상AML환자검측NPM1화FLT3-ITD기인돌변,유리우예후평고화지도치료.
Objective To investigate the clinical characteristics and efficacy of acute myeloid leukemia (AML) with NPM1 and FLT3 mutations.Methods NPM1 and FLT3 mutations were detected in 67 patients with newly diagnosed AML by PCR-capillary electrophoresis.The relationship was analyzed between the mutations and efficacy.Results The incidence of NPM1 mutation was 10.4％ (7/67) in total AML patients and 26.1％ (6/23) in normal karyotypes AML patients.The incidence of FLT3-ITD mutation was 10.4％ (7/67) in total AML patients and 17.4％ (4/23) in normal karyotypes AML patients.The characteristics of 60 NPM1 wild type patients vs that of 7 NPMl mutation patients was as follow,platelet count (BPC) (54× 109/L vs.27.5 × 109/L,P ＜ 0.01),proportion of AML-M5 (57.1％ vs.27.3％,P ＜ 0.01),incidence of CD34+ (28.6％ vs.63.3％,P＜0.01),normal karyotypes (85.7％ vs.28.3％,P＜0.01),cases with particular fusion gene (0 vs.48.3％,P ＜ 0.01),incidence of FLt3-1TD-mutations positive (28.6％ vs.8.3％,P ＜ 0.01),and the differences were significant (P＜0.01).No statistic difference was found in white blood cell(WBC) counts,percentage of blasts in bone marrow,sex,median age and complete remission rate between the two groups (P ＞0.05).The WBC counts (26.9 × 109/L vs.8.1 × 109/L,P =0.013),percentage of blastsin in bone marrow (90％ vs.76％,P=0.014) in the FLT3-ITD mutationg positive patients were clearly higher than those in the FLT3-ITD negative patients.If not associated with FLT3-ITD mutations,mutant NPM1 appears to identify patients with improved response toward treatment.Conclusion It is necessary to detect NPM1 mutation and FLT3-ITD mutation in newly diagnosed AML patients,especially in patients with normal karyotype,which might help to molecular classification and treatment.
