中华血液学杂志
中華血液學雜誌
중화혈액학잡지
Chinese Journal of Hematology
2011年
5期
304-307
,共4页
魏计锋%陈广华%仇惠英%傅垮垮%丁子轩%刘红%冯宇峰%陈苏宁%常伟荣%吴德沛
魏計鋒%陳廣華%仇惠英%傅垮垮%丁子軒%劉紅%馮宇峰%陳囌寧%常偉榮%吳德沛
위계봉%진엄화%구혜영%부과과%정자헌%류홍%풍우봉%진소저%상위영%오덕패
白血病,非淋巴细胞,急性%基因,TET2%DNA突变分析%预后
白血病,非淋巴細胞,急性%基因,TET2%DNA突變分析%預後
백혈병,비림파세포,급성%기인,TET2%DNA돌변분석%예후
Leukemia,nonlymphoblastic,acute%Gene,TET2%DNA mutation analysis%Prognosis
目的 探讨急性髓系白血病(AML)患者TET2基因突变的发生率,并探讨其临床意义.方法 采用基因组DNA-PCR方法扩增TET2基因3～11号外显子,基因测序分析TET2基因突变,随访患者判定其疗效及预后.结果 96例AML患者中13例检测到TET2基因突变,突变率为13.54%(95%CI 6.70%～20.38%).突变组患者中位年龄54岁,未突变组患者中位年龄41岁,两者差异有统计学意义(P=0.010).突变组患者初诊外周血HGB高于未突变组,分别为84(70～108)g/L和70(55～87)g/L,差异有统计学意义(P=0.032);两者在性别、分型、初诊外周血白细胞计数、血小板计数、外周血原始细胞、骨髓原始细胞比例及染色体核型等方面差异无统计学意义(P值均>0.05).TET2基因突变与NPM1基因突变有一定的相关性,但与C-KIT、FLT3及JAK2 V617F突变并无明显的相关性.在非M3型患者中,突变组的第1次化疗完全缓解率和2年总生存率均低于未突变组,差异有统计学意义(P<0.05).结论 TET2基因突变更易存在于年龄偏大的AML患者中,在非M3型患者中TET2基因突变与患者的I临床特点、疗效有一定相关性,提示是预后不良的分子学标志.
目的 探討急性髓繫白血病(AML)患者TET2基因突變的髮生率,併探討其臨床意義.方法 採用基因組DNA-PCR方法擴增TET2基因3～11號外顯子,基因測序分析TET2基因突變,隨訪患者判定其療效及預後.結果 96例AML患者中13例檢測到TET2基因突變,突變率為13.54%(95%CI 6.70%～20.38%).突變組患者中位年齡54歲,未突變組患者中位年齡41歲,兩者差異有統計學意義(P=0.010).突變組患者初診外週血HGB高于未突變組,分彆為84(70～108)g/L和70(55～87)g/L,差異有統計學意義(P=0.032);兩者在性彆、分型、初診外週血白細胞計數、血小闆計數、外週血原始細胞、骨髓原始細胞比例及染色體覈型等方麵差異無統計學意義(P值均>0.05).TET2基因突變與NPM1基因突變有一定的相關性,但與C-KIT、FLT3及JAK2 V617F突變併無明顯的相關性.在非M3型患者中,突變組的第1次化療完全緩解率和2年總生存率均低于未突變組,差異有統計學意義(P<0.05).結論 TET2基因突變更易存在于年齡偏大的AML患者中,在非M3型患者中TET2基因突變與患者的I臨床特點、療效有一定相關性,提示是預後不良的分子學標誌.
목적 탐토급성수계백혈병(AML)환자TET2기인돌변적발생솔,병탐토기림상의의.방법 채용기인조DNA-PCR방법확증TET2기인3～11호외현자,기인측서분석TET2기인돌변,수방환자판정기료효급예후.결과 96례AML환자중13례검측도TET2기인돌변,돌변솔위13.54%(95%CI 6.70%～20.38%).돌변조환자중위년령54세,미돌변조환자중위년령41세,량자차이유통계학의의(P=0.010).돌변조환자초진외주혈HGB고우미돌변조,분별위84(70～108)g/L화70(55～87)g/L,차이유통계학의의(P=0.032);량자재성별、분형、초진외주혈백세포계수、혈소판계수、외주혈원시세포、골수원시세포비례급염색체핵형등방면차이무통계학의의(P치균>0.05).TET2기인돌변여NPM1기인돌변유일정적상관성,단여C-KIT、FLT3급JAK2 V617F돌변병무명현적상관성.재비M3형환자중,돌변조적제1차화료완전완해솔화2년총생존솔균저우미돌변조,차이유통계학의의(P<0.05).결론 TET2기인돌변경역존재우년령편대적AML환자중,재비M3형환자중TET2기인돌변여환자적I림상특점、료효유일정상관성,제시시예후불량적분자학표지.
Objective To evaluate the prevalence of TET2 gene mutation in acute myeloid leukemia (AML) patients, and analyze their clinical characteristics and prognosis. Methods Polymerase chain reaction (PCR) and direct sequencing were used to sequence exon 3 to 11 of TET2 gene. Results Among 96 AML patients, TET2 gene mutation was detected in 13 (13. 54% ) patients (95% CI 6. 70% -20. 38% ).The median age was 54 years in mutated group and 41 years in unmutated group ( P =0.010). Mutated and unmutated patients did not significantly differ in gender, white blood cells ( WBC) count at diagnosis, platelet count, PB and BM blast percentage and chromosome karyotype, excepting for hemoglobin level 84 (70 -108) g/L in mutated group versus 70(55 -87) g/L in unmutated group (P =0.032). TET2 gene mutation had no significant correlation with C-KIT, FLT3, JAK2V617F mutations, but did with NPM1 mutation. TET2 mutated patients had lower CR1 rate and 2-year overall survival than unmutated in non-M3 patients ( P <0.05). Conclusions TET2 gene mutation is more prevalent in older AML patients and has a certain correlation with clinical characteristics and outcome. It may be a molecular marker for poor prognosis in AML.
