Arkesteijn G J, Erpelinck S L, Martens A C, Hagemeijer A, Hagenbeek A
Institute of Hematology, Erasmus University, Rotterdam, The Netherlands.
Cancer Genet Cytogenet. 1996 May;88(1):69-75. doi: 10.1016/0165-4608(95)00278-2.
The use of fluorescence in situ hybridization (FISH) for the purpose of repeated follow-up examination of bone marrow samples from 38 leukemia patients was investigated. On the basis of conventional cytogenetic analysis, patients with acute leukemia whose leukemic cells carried numerical chromosomal aberrations were selected and followed with repetitive DNA probes that specifically hybridize to one chromosome type. Repeated cytogenetic metaphase analyses would have been laborious and not sensitive or quantitative enough to follow declining numbers of aberrant cells. FISH, as an interphase cytogenetic technique, provides a rapid and simple alternative with high sensitivity. Although FISH data before and after chemotherapy were in agreement with bone marrow cytology in 30 of 38 patients, discrepancies were noticed in specific cases. These could be explained by the presence of cytogenetically distinct subclones that behave differently during treatment, the presence of differentiated leukemic cells, changes in the chromosomal constitution caused by clonal relapse, or the fact that a numerical aberration is found by conventional chromosome banding analysis while the target region to which the probe is directed is still present in the nucleus as a diploid set.
对38例白血病患者骨髓样本进行重复随访检查时，对荧光原位杂交（FISH）的应用进行了研究。基于传统细胞遗传学分析，选择急性白血病患者，其白血病细胞存在染色体数目异常，并使用特异性杂交至一种染色体类型的重复DNA探针进行随访。重复的细胞遗传学中期分析将非常费力，且对于追踪异常细胞数量的减少不够灵敏或定量。FISH作为一种间期细胞遗传学技术，提供了一种快速、简单且灵敏度高的替代方法。虽然化疗前后的FISH数据在38例患者中的30例与骨髓细胞学结果一致，但在特定病例中发现了差异。这些差异可以通过以下原因来解释：存在细胞遗传学上不同的亚克隆，其在治疗过程中表现不同；存在分化的白血病细胞；克隆复发导致染色体组成的变化；或者通过传统染色体带型分析发现了染色体数目异常，而探针靶向的区域在细胞核中仍以二倍体形式存在。
