BCR/ABL双色双融-荧光原位杂交技术的信号模式探讨

Investigation of signal modes of dual color dual fusion fluorescence in situ hybridization for BCR/ABL detection

目的研究BCR/ABL双色双融合探针荧光原位杂交技术(dual color dual fusion BCR/ABL probe-fluorescence in situ hy-bridization,DCDF-FISH)在白血病遗传学异常检测中的常见信号模式,探讨各种信号模式与染色体异常的关系。方法采用BCR/ABL的DCDF-FISH技术和染色体核型分析技术对初诊的40例慢性粒细胞白血病(chronic myelocytic leukemia,CML)、30例急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)以及10例其它(包括AML和骨髓增生性疾病)患者骨髓标本进行检测,比较DCDF-FISH各种信号模式与染色体关系。结果DCDF-FISH检测见11种信号模式:2R2G为正常细胞信号模式;2R3G、3R2G及3R3G为无BCR/ABL融合基因的异常信号模式;1R1G2F、1R1G1F、1R2G1F和2R1G1F模式的核型都为t(9;22);1R1G3F核型模式为t(9;22)伴有Ph+;2R2G1F为三条以上染色体易位t(9;22;V);1R2G2F为t(9;22)伴多一条22号染色体,这些信号模式的细胞内都存在着BCR/ABL融合基因。结论BCR/ABL DCDF-FISH检测时存在着多种信号模式,明确各种信号模式的意义,对临床疾病的诊断、预后有重要指导意义。

Objective To study the signal modes of dual color dual fusion probe-fluorescence in situ hybridization（DFDC-FISH） in BCR/ABL detection,and investigate the relations between signal mode of DCDF-FISH and chromosomal abnormality.Methods Bone marrow samples from 40 patients with newly diagnosed chronic myelocytic leukemia,30 patients with newly diagnosed acute lymphoblastic leukemia and 10 patients with other diseases（acute myelocytic leukemia or myeloproliferative diseases） were detected with DCDF-FISH for BCR￡ˉABL and karyotype analysis.The relations between signal modes of DCDF-FISH and chromosomal abnormality were compared and analyzed.Results Eleven signal modes were found in DCDF-FISH.Signal mode of 2R2G corresponded to normal chromasomal karyotype.Signal modes of 2R3G,3R2G and 3R3G corresponded to abnormal chromasomal karyotype with no BCR/ABL fusion gene.Signal modes of 1R1G2F,1R1G1F,1R2G1F and 2R1G1F corresponded to t（9,22） karyotype.While signal mode of 1R1G3F corresponded to t（9,22） karyotype accompanying Ph＋.2R2G1F represented chromosome translocation in more than 3 chromosomes t（9;22;V）.1R2G2F corresponded to t（9,22） karyotype accompanying an additional chromosome 22.BCR/ABL fusion gene was detected in all of these chromosomes except for chromosomes with signal modes of 2R2G,2R3G,3R2G and 3R3G.Conclusion There are various kinds of signal modes in DCDF-FISH for BCR/ABL detection.Identifying the meaning of various kinds of signal modes of DCDF-FISH for BCR/ABL detection is of important guiding significance in the diagnosis and prognosis of leukemia.