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目的探讨多重荧光原位杂交技术检测急性髓系白血病(AML)患者复杂核型异常的价值。方法联合应用常规细胞遗传学、间期荧光原位杂交技术和多重荧光原位杂交技术对14例伴有复杂核型异常的 AML 患者进行研究。结果 14例 AML 患者应用常规细胞遗传学技术共检出23种染色体的数量异常和56种染色体的结构异常。常规细胞遗传学技术检出的4种染色体增加和4种染色体丢失与多重荧光原位杂交技术分析结果一致,常规细胞遗传学技术检出的12种染色体丢失经多重荧光原位杂交技术证实为衍生染色体。常规细胞遗传学技术检出的26种衍生染色体和19种标记染色体的性质被多重荧光原位杂交进一步明确。它们中大多数是由染色体不平衡易位所致,包括2种尚未报道的复杂 t(8;21)易位:t(8;21),der(8)t(8;21)(8pter→8q22::21q22→21qter),der(21)t(8;21;8)(8qter→8q22::21p13→21q22::8q22→8qter)和 t(21;8;18;1),der(8)t(8;21)(8pter→8q22::21q22→21qter),der(21)t(21;8;18;1)(21p13→21q22?::8q22→8q24?::18??::1q??q??)。复杂核型异常几乎涉及所有染色体,但以17,7和5号染色体多见。结论 AML 的复杂核型异常单用常规细胞遗传学分析常难以阐明,而联合多重荧光原位杂交则可以更好的揭示其特征。因此对伴有复杂核型异常的 AML 患者,最好进一步采用多重荧光原位杂交技术进行分析。
Objective To investigate the value of multiplex fluorescence in situ hybridization (FISH) in detection of complex karyotypic abnormalities in patients with acute myeloid leukemia (AML). Methods A total of 14 AML patients with complicated karyotype abnormalities were studied by routine cytogenetics, interphase fluorescence in situ hybridization and multiplex fluorescence in situ hybridization. Results Totally 23 chromosomal abnormalities and 56 chromosomal abnormalities were detected by routine cytogenetics in 14 AML patients. Four kinds of chromosome increase and four kinds of chromosome loss detected by conventional cytogenetics were consistent with the results of multiplex fluorescence in situ hybridization. The 12 kinds of chromosome loss detected by conventional cytogenetics were confirmed to be derivative by multiplex fluorescence in situ hybridization chromosome. The properties of 26 kinds of derived chromosomes and 19 kinds of labeled chromosomes detected by conventional cytogenetic techniques were further clarified by multiplex fluorescence in situ hybridization. Most of them are caused by chromosomal unbalanced translocations, including two unrecorded complex t (8; 21) translocations: t (8; 21), der (8) t Der (21) t (8; 21; 8) (8qter → 8q22 :: 21p13 → 21q22 :: 8q22 → 8qter) and t (21; 8; 18; 1), der (8 pt → 8q22 :: 21q22 → 21qter), der (21) t (21; 8; 18; 1) (21p13 → 21q22® :: 8q22 → 8q24® :: 18 ?? :: 1q ?? q ??). Complex karyotypes involve almost all chromosomes, but chromosomes 17, 7 and 5 are more common. Conclusion The complicated karyotypic abnormalities of AML are often difficult to be elucidated by conventional cytogenetic analysis alone. However, the combined multiplex fluorescence in situ hybridization can reveal its characteristics better. Therefore, patients with AML complicated with complex karyotypes should be further analyzed by multiplex fluorescence in situ hybridization.