Anastasi J, Le Beau M M, Vardiman J W, Westbrook C A
Department of Pathology, University of Chicago, Illinois 60637.
Am J Pathol. 1990 Jan;136(1):131-9.
The feasibility of using molecular hybridization techniques for the detection of malignant clones that contain numerical chromosomal abnormalities was tested in clinical specimens from patients who had hematologic malignancies. A biotinylated DNA probe specific for chromosome 9 was used for in situ hybridization to interphase and terminally differentiated cells, and fluoresceinated avidin or avidin followed by biotinylated alkaline phosphatase was used for probe detection. In a blinded analysis of ten clinical samples from patients with hematologic malignancies and cytogenetically documented monosomy 9 or trisomy 9, the abnormality was identified correctly in each of five cases of monosomy 9 and five cases of trisomy 9. In two cases of trisomy 9, the detection of this numerical chromosomal abnormality in nuclei of segmented neutrophils permitted the deduction that some granulocytic cells were derived from the abnormal clone, but were still capable of terminal differentiation. Analysis of the position of the probe signal in such nuclei did not disclose any ordered localization of the chromosome 9 homologues with respect to segmentation. These results demonstrate that interphase cytogenetic analysis is feasible in peripheral blood and bone marrow specimens, and that this technique may be a useful adjunct to conventional cytogenetic analysis for the clinical management of patients with hematopoietic malignancies.
利用分子杂交技术检测含有染色体数目异常的恶性克隆的可行性，在患有血液系统恶性肿瘤患者的临床标本中进行了测试。一种针对9号染色体的生物素化DNA探针用于间期细胞和终末分化细胞的原位杂交，荧光素化抗生物素蛋白或抗生物素蛋白后接生物素化碱性磷酸酶用于探针检测。在对10例血液系统恶性肿瘤患者且经细胞遗传学证实存在9号染色体单体或三体的临床样本进行的盲法分析中，9号染色体单体的5例和9号染色体三体的5例均被正确鉴定出异常。在2例9号染色体三体病例中，在分叶核中性粒细胞的细胞核中检测到这种染色体数目异常，由此推断一些粒细胞来源于异常克隆，但仍能够进行终末分化。对这些细胞核中探针信号位置的分析未发现9号染色体同源物相对于分叶有任何有序定位。这些结果表明，间期细胞遗传学分析在外周血和骨髓标本中是可行的，并且该技术可能是对造血系统恶性肿瘤患者进行临床管理的常规细胞遗传学分析的有用辅助手段。
