多重荧光原位杂交技术检测急性髓系白血病复杂核型异常的价值

The value of multiplex fluorescence in situ hybridization in the detection of complex karyotypic abnormalities of acute myeloid leukemia

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 the detection of complex karyotypic abnormalities of acute myeloid leukemia （AML）. Methods Multiplex FISH was used in combination with conventional cytogenetics （CC） and interphase FISH to study 14 cases of AML with complex karyotypic abnormalities. Results In the 14 cases of AML studied , conventional cytogenetics detected 23 numerical and 56 structural chromosome abnormalities. Among them 4 gained whole chromosome and 4 lost whole chromosome which were confirmed by multiplex FISH. Twelve chromosome losses detected by CC were revised as derivative chromosomes resulted from various structural aberrations, and 26 derivative and 19 marker chromosomes were characterized precisely by multiplex FISH. Most of them were resulted from unbalanced translocations, including 2 complex 8 ;21 translocations, which have not been reported previously： t（8 ;21 ）, der（8）t（8 ;21 ） （8pter→8q22 ： ：21q22→21qter）, der（21 ）t（8 ;21 ;8） （8qter→8q22：： 21p13→21q22： ：8q22→8qter） and 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 ？：： 1877：：1q？？ q？？）. The complex karyotypic abnormalities invloved nearly all chromosomes, of which the chromosomes 17, 7 and 5 were more involved than the rest. Conclusion Multiplex FISH in combination with conventional cytogenetics may characterize the complex chrmosomal abnormalities more precisely. Introduction of this technique to the study of AML with complex chromosomal abnormalities is warranted.