Micci F, Teixeira M R, Dietrich C U, Saeter G, Bjerkehagen B, Heim S
Department of Pathology, The Norwegian Radium Hospital and Institute for Cancer Research, Oslo.
Hum Genet. 1999 May;104(5):370-5. doi: 10.1007/s004390050970.
Chromosome banding analysis of solid tumors often yields incomplete karyotypes because of the complex rearrangements encountered. The addition of fluorescence in situ hybridization (FISH) methods has helped improve the accuracy of solid tumor cytogenetics, but the absence of screening qualities from standard FISH approaches has proved a severe limitation. We describe the cytogenetic analysis of ten solid tumors using G-banding followed by cross-species color banding (RxFISH), a FISH-based screening technique giving a chromosome-specific banding pattern based on the genomic homologies between humans and gibbons. The addition of RxFISH analysis in all cases led to the identification of previously unidentified intra- as well as interchromosomal rearrangements, thus giving a much more certain and detailed karyotype. In two gastric stromal sarcomas, a tumor type for which no cytogenetic data were hitherto available, numerical chromosomal aberrations dominated, but one of the tumors also carried an unbalanced 7;17-translocation with the same breakpoint in chromosome 17 as that seen in endometrial stromal sarcomas.
由于实体瘤中存在复杂的重排,对其进行染色体显带分析往往会得到不完整的核型。荧光原位杂交(FISH)方法的加入有助于提高实体瘤细胞遗传学的准确性,但标准FISH方法缺乏筛选特性已被证明是一个严重的局限。我们描述了对10例实体瘤进行细胞遗传学分析的过程,先用G显带,然后进行跨物种彩色显带(RxFISH),这是一种基于FISH的筛选技术,它基于人类和长臂猿之间的基因组同源性给出染色体特异性的显带模式。在所有病例中加入RxFISH分析后,发现了之前未识别的染色体内和染色体间重排,从而得到了更确定、更详细的核型。在两例胃间质肉瘤(此前尚无该肿瘤类型的细胞遗传学数据)中,染色体数目异常占主导,但其中一个肿瘤还存在7号与17号染色体的不平衡易位,其17号染色体上的断点与子宫内膜间质肉瘤中的相同。