Döhner H, Stilgenbauer S, Fischer K, Schröder M, Bentz M, Lichter P
Medizinische Klinik und Poliklinik V, University of Heidelberg, Germany.
Stem Cells. 1995 Dec;13 Suppl 3:76-82. doi: 10.1002/stem.5530130712.
Besides its application in biological research, fluorescence in situ hybridization (FISH) is increasingly used for the cytogenetic analysis of human malignancies. Compared to conventional cytogenetic analysis, FISH allows delineation of specific numerical and structural chromosome aberrations in interphase cells (interphase cytogenetics). We have developed sets of genomic DNA probes for the identification of chromosome aberrations associated with chronic lymphocytic leukemia (CLL), chronic myeloid leukemias (CML), and acute myeloid leukemia (AML). In CLL, interphase cytogenetics will greatly contribute to the evaluation of the true incidence of specific chromosome aberrations and will provide the basis for more accurate correlations with the clinical outcome. The Philadelphia chromosome can be detected by FISH with high specificity and sensitivity in both CML and acute lymphoblastic leukemia. In CML, it can be used to better assess the cytogenetic remission status following therapy with interferon-alpha. Finally, in AML interphase cytogenetics provides a rapid and reliable technique for the identification of chromosome aberrations which are one of the most important prognostic factors in this disease. With the design of complex DNA probe sets and the development of digital microscopy and automated image analysis, it will be possible to use such disease-specific probe sets for monitoring residual disease following chemotherapy.
除了在生物学研究中的应用外，荧光原位杂交（FISH）越来越多地用于人类恶性肿瘤的细胞遗传学分析。与传统的细胞遗传学分析相比，FISH能够在间期细胞中描绘特定的染色体数目和结构异常（间期细胞遗传学）。我们已经开发了一系列基因组DNA探针，用于识别与慢性淋巴细胞白血病（CLL）、慢性粒细胞白血病（CML）和急性髓细胞白血病（AML）相关的染色体异常。在CLL中，间期细胞遗传学将极大地有助于评估特定染色体异常的真实发生率，并为与临床结果进行更准确的关联提供依据。费城染色体在CML和急性淋巴细胞白血病中均可通过FISH以高特异性和敏感性检测到。在CML中，它可用于更好地评估干扰素-α治疗后的细胞遗传学缓解状态。最后，在AML中，间期细胞遗传学为识别染色体异常提供了一种快速可靠的技术，而染色体异常是该疾病最重要的预后因素之一。随着复杂DNA探针组的设计以及数字显微镜和自动图像分析技术的发展，使用此类疾病特异性探针组监测化疗后的残留疾病将成为可能。
