中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2012年
8期
593-597
,共5页
何亚香%薛永权%王红英%杨乃超%邵雪君%徐俊%季正华%黄益萍%丁云芳%胡绍燕
何亞香%薛永權%王紅英%楊迺超%邵雪君%徐俊%季正華%黃益萍%丁雲芳%鬍紹燕
하아향%설영권%왕홍영%양내초%소설군%서준%계정화%황익평%정운방%호소연
白血病,髓样%染色体倒位%原位杂交,荧光%预后
白血病,髓樣%染色體倒位%原位雜交,熒光%預後
백혈병,수양%염색체도위%원위잡교,형광%예후
Leukemia,myeloid%Chromosome inversion%In situ hybridization,fluorescence%Prognosis
目的 回顾性分析inv(16)儿童急性髓系白血病(AML)的临床和实验室特点.方法 采用红、绿荧光素直接标记的双色断裂点分离的基因探针核心结合因子β(CBFβ)对15例形态学诊断为急性粒-单核细胞白血病伴异常嗜酸细胞(M4EO)或形态学上无M4EO特征但经逆转录-多重巢式聚合酶链反应(多重RT-PCR)证实有CBFβ平滑肌肌球蛋白重链基因11( MYH11)融合基因的AML和核型伴有8三体的M4患儿进行双色荧光原位杂交(D-FISH)检测,并将其结果与细胞形态学、免疫表型、染色体核型和RT-PCR相联系和比较.结果 D-FISH揭示除2例伴8-三体的AML外,其余13例AML包括M4E0 12例和M2a 1例,均提示有CBFβ基因断裂,其平均阳性细胞检出率为55.2％(37.0％～86.0％).D-FISH阳性病例RT-PCR也检出CBFβ-MYH11融合转录本.免疫表型检测均有髓系抗原CD13和CD33表达,但不伴有淋系抗原表达.G显带核型分析检出10例有inv(16),其中2例同时有8和22三体,1例只伴有22三体.R带分析仅检出5例有inv(16).本组inv(16) AML的预后总体良好,治疗后完全缓解(CR)率达81.8％,中位生存期11个月,其中8例尚在CR中,但1例同时伴有+8和+22者CR后8个月出现复发和核型演变,并迅即死亡.结论 inv(16) AML是急性白血病中1种独特亚型,大多数有M4EO特征,总体预后良好,但同时伴有+8、+22,特别是同时伴核型演变者其预后似不乐观.在inv(16)的检测方面,G显带技术明显优于R带；D-FISH结合RT-PCR则更为敏感可靠.
目的 迴顧性分析inv(16)兒童急性髓繫白血病(AML)的臨床和實驗室特點.方法 採用紅、綠熒光素直接標記的雙色斷裂點分離的基因探針覈心結閤因子β(CBFβ)對15例形態學診斷為急性粒-單覈細胞白血病伴異常嗜痠細胞(M4EO)或形態學上無M4EO特徵但經逆轉錄-多重巢式聚閤酶鏈反應(多重RT-PCR)證實有CBFβ平滑肌肌毬蛋白重鏈基因11( MYH11)融閤基因的AML和覈型伴有8三體的M4患兒進行雙色熒光原位雜交(D-FISH)檢測,併將其結果與細胞形態學、免疫錶型、染色體覈型和RT-PCR相聯繫和比較.結果 D-FISH揭示除2例伴8-三體的AML外,其餘13例AML包括M4E0 12例和M2a 1例,均提示有CBFβ基因斷裂,其平均暘性細胞檢齣率為55.2％(37.0％～86.0％).D-FISH暘性病例RT-PCR也檢齣CBFβ-MYH11融閤轉錄本.免疫錶型檢測均有髓繫抗原CD13和CD33錶達,但不伴有淋繫抗原錶達.G顯帶覈型分析檢齣10例有inv(16),其中2例同時有8和22三體,1例隻伴有22三體.R帶分析僅檢齣5例有inv(16).本組inv(16) AML的預後總體良好,治療後完全緩解(CR)率達81.8％,中位生存期11箇月,其中8例尚在CR中,但1例同時伴有+8和+22者CR後8箇月齣現複髮和覈型縯變,併迅即死亡.結論 inv(16) AML是急性白血病中1種獨特亞型,大多數有M4EO特徵,總體預後良好,但同時伴有+8、+22,特彆是同時伴覈型縯變者其預後似不樂觀.在inv(16)的檢測方麵,G顯帶技術明顯優于R帶；D-FISH結閤RT-PCR則更為敏感可靠.
목적 회고성분석inv(16)인동급성수계백혈병(AML)적림상화실험실특점.방법 채용홍、록형광소직접표기적쌍색단렬점분리적기인탐침핵심결합인자β(CBFβ)대15례형태학진단위급성립-단핵세포백혈병반이상기산세포(M4EO)혹형태학상무M4EO특정단경역전록-다중소식취합매련반응(다중RT-PCR)증실유CBFβ평활기기구단백중련기인11( MYH11)융합기인적AML화핵형반유8삼체적M4환인진행쌍색형광원위잡교(D-FISH)검측,병장기결과여세포형태학、면역표형、염색체핵형화RT-PCR상련계화비교.결과 D-FISH게시제2례반8-삼체적AML외,기여13례AML포괄M4E0 12례화M2a 1례,균제시유CBFβ기인단렬,기평균양성세포검출솔위55.2％(37.0％～86.0％).D-FISH양성병례RT-PCR야검출CBFβ-MYH11융합전록본.면역표형검측균유수계항원CD13화CD33표체,단불반유림계항원표체.G현대핵형분석검출10례유inv(16),기중2례동시유8화22삼체,1례지반유22삼체.R대분석부검출5례유inv(16).본조inv(16) AML적예후총체량호,치료후완전완해(CR)솔체81.8％,중위생존기11개월,기중8례상재CR중,단1례동시반유+8화+22자CR후8개월출현복발화핵형연변,병신즉사망.결론 inv(16) AML시급성백혈병중1충독특아형,대다수유M4EO특정,총체예후량호,단동시반유+8、+22,특별시동시반핵형연변자기예후사불악관.재inv(16)적검측방면,G현대기술명현우우R대；D-FISH결합RT-PCR칙경위민감가고.
Objective To evaluate the clinical and laboratory features of pediatric inv (16) acute myeloid leukemia (AML) retrospectively.Method Dual color fluorescence in situ hybridization (D-FISH)using a LS1 CBFβ inv(16) break apart probe labeled by Spectrum red and Spectrum green was performed in 15 acute myeloid leukemia cases,including 13 cases with or without abnormal eosinophils but with positive core binding factor 3 (CBFβ)-MYH11 fusion transcript detected by RT-PCR,and 2 cases with trisomy 8 ( + 8 ).The results were compared with the morphology,immunophenotype,karyotype and RT-PCR.Result Morphologically,12 cases were diagnosed as M4EO,2 as M4,and 1 as M2a lmmunophenotypically,all 13 AML cases with inv(16) showed positive expression of CD13 and CD33,but without the expression of any lymphoid lineage antigens.Karyotyping analysis with G-banding detected inv (16) in 10 AML cases,including 9 M4EO cases and 1 M2a,but only 5 positive cases were detected using R-banding technique.Among them,2 cases had simultaneous + 8 and trisomy22 ( + 22),one had + 22 only in addition to inv(16).D-FISH revealed a CBFβ-MYH11 rearrangement in 13 cases of AML with positive RT-PCR results,and the mean positive rate of cell detection was 55.15％ (range 37.0％ -86.0％ ).The complete remission rate (CR) and median survival period in this series of inv(16) AML were 81.5％ and 11 months,respectively,of whom,8 cases were still in CR.Relapse and karyotypic evolution were seen in case 5 with + 8,+ 22 in addition to inv(16).Conclusion AML with inv(16) is a special subtype.Most cases belong to M4 EO.Its prognosis is good in general,but it seems to be an unfavorable feature for AM L with inv(16) and + 8,+ 22 simultaneously,especially with karyotypic evolution.For detection of inv (16),G-banding technique is evidently superior to R-banding technique.D-FISH combined with RT-PCR are more sensitive and reliable than chromosome banding analysis.
