CAJ | 학술논문

目的用间期荧光原位杂交(fluorescence in situ hybridization,FISH)技术检测急性髓系白血病(acute myeloid leukemia,AML)伴发的隐匿性染色体重排.方法用骨髓细胞直接法和(或)短期培养制备患者染色体,用R显带进行核型分析.应用MLL、CBFβ/MYH11、AML1/ETO、PML/RARa等FISH探针分别对FAB亚型为M5、M4、M2、M3,而常规细胞遗传学(conventional cytogenetics,CC)分析未发现典型易位的病例进行FISH检测.结果用AML1/ETO探针对38例M2-AML进行了检测,共发现4例t(8；21)阳性,其中包括2例典型信号模式,2例插入易位.用PML/RARα探针对9例CC未见t(15；17)易位的M3-AML进行了检测,共发现6例阳性标本,其中2例为典型信号模式,3例为插入易位,1例FISH及多重逆转录-PCR检测未见PML/RARα,RARα探针检测提示RARA基因部分缺失.用CBFβ断裂点分开的双色FISH探针对23例CC分析未见典型inv(16)的M4(包含M4EO)进行了检测,共发现3例阳性,且均为典型信号.用MLL探针对38例CC分析未见11q23重排的M5进行了检测,结果均为阴性.结论间期FISH检测能够发现少数核型正常的AML的隐匿性重排如AML1/ETO、PML/RARa和CBFβ/MYH11,但对于检出MLL重排似无帮助.
목적 용간기형광원위잡교(fluorescence in situ hybridization,FISH)기술검측급성수계백혈병(acute myeloid leukemia,AML)반발적은닉성염색체중배.방법 용골수세포직접법화(혹)단기배양제비환자염색체,용R현대진행핵형분석.응용MLL、CBFβ/MYH11、AML1/ETO、PML/RARa등FISH탐침분별대FAB아형위M5、M4、M2、M3,이상규세포유전학(conventional cytogenetics,CC)분석미발현전형역위적병례진행FISH검측.결과 용AML1/ETO탐침대38례M2-AML진행료검측,공발현4례t(8；21)양성,기중포괄2례전형신호모식,2례삽입역위.용PML/RARα탐침대9례CC미견t(15；17)역위적M3-AML진행료검측,공발현6례양성표본,기중2례위전형신호모식,3례위삽입역위,1례FISH급다중역전록-PCR검측미견PML/RARα,RARα탐침검측제시RARA기인부분결실.용CBFβ단렬점분개적쌍색FISH탐침대23례CC분석미견전형inv(16)적M4(포함M4EO)진행료검측,공발현3례양성,차균위전형신호.용MLL탐침대38례CC분석미견11q23중배적M5진행료검측,결과균위음성.결론 간기FISH검측능구발현소수핵형정상적AML적은닉성중배여AML1/ETO、PML/RARa화CBFβ/MYH11,단대우검출MLL중배사무방조.
Objective To detect specific chromosome rearrangements in acute myeloid leukemia (AML) using interphase-fluorescence in situ hybridization(FISH).Methods All cases were studied by R-band karyotypic analysis using direct method and/or short-term culture for chromosomes preparation.Interphase-FISH was performed in 108 cases of AML with M5,M4,M2,M3 subtypes including 103 cases with normal karyotypes, 4 cases with chromosomal abnormalities other than specific chromosomal rearrangements using chromosome translocation probe such as AML1/ETO,PML/RARα,CBFβ/MYH11 and MLL.Results Of 38 cases of M2-AML without t(8;21) on conventional cytogenetics(CC) analysis,4 cases showed positivity for AML1/ETO fusion transcript,which included 2 cases with typical signal model and 2 with insertion.Of 9 cases of M3-AML without t(15; 17) on CC analysis,6 showed positivity for PML/RARα fusion transcript including 2 with typical signal model,3 with insertion,one without PML/RARα rearrangement on reverse transcription-PCR and FISH assay using PML/RARα probe.FISH assay using the RARα dual color,break-apart rearrangement probe indicated a partial deletion of RARα.Of 23cases with M4 or M4EO-AML without inv(16) on CC analysis,3 showed positivity for CBFβ/MYH11 fusion transcript.Of 38 cases without 1 lq23 translocation on CC analysis,all cases were negative for MLL rearrangement. ConclusionInterphase-FISH can detect specific chromosome rearrangements such as AML1/ETO,PML/RARα or CBF3/MYH11 in some AML cases with normal karyotype,though it seemed less useful for the detection of MLL rearrangement.