Shackney S E, Singh S G, Yakulis R, Smith C A, Pollice A A, Petruolo S, Waggoner A, Hartsock R J
Laboratory of Cancer Cell Biology and Genetics, Allegheny-Singer Research Institute, Pittsburgh, Pennsylvania 15212-4772, USA.
Cytometry. 1995 Dec 15;22(4):282-91. doi: 10.1002/cyto.990220404.
Although ploidy is associated with the development and progression of most breast cancers, the value of flow cytometric ploidy as a clinical prognostic factor remains controversial. The technique of fluorescence in situ hybridization (FISH) can be used not only to determine overall ploidy, but also to assess the over-representation or under-representation of specific chromosomes in interphase cells. This information may be of prognostic value. We studied 84 primary breast cancers and 20 metastatic tumors by FISH, using chromosome-specific fluorescent centromeric probes. Of these, 100 cases were also studied by DNA flow cytometry. The FISH studies were concordant with DNA flow cytometry with regard to distinguishing aneuploid from diploid tumors in 78% of cases. The FISH data suggested that aneuploidy arises by a process of chromosome complement doubling with subsequent chromosome loss. In tumors that exhibited evidence of more than one round of chromosome complement doubling, the selective accumulation of multiple copies of specific chromosomes or chromosome segments was common. Multiple copies of chromosomes centromeres 1, 3, and 17 were accumulated selectively in the cells of individual tumors more frequently than chromosomes centromeres 7, 11, and 16. Multiple copies of chromosomes centromeres 10 and 20 were selectively accumulated only rarely, if at all. Aneuploidy in breast cancer can be divided into distinct stages using fluorescence in situ hybridization techniques. The stages of aneuploidy provide potential landmarks in the genetic evolution of this disease with possible links to chromosome-specific evolutionary changes.
虽然倍性与大多数乳腺癌的发生和发展相关，但流式细胞术检测倍性作为临床预后因素的价值仍存在争议。荧光原位杂交（FISH）技术不仅可用于确定整体倍性，还可评估间期细胞中特定染色体的过度或不足表现。这些信息可能具有预后价值。我们使用染色体特异性荧光着丝粒探针，通过FISH对84例原发性乳腺癌和20例转移瘤进行了研究。其中，100例病例也进行了DNA流式细胞术检测。在区分非整倍体和二倍体肿瘤方面，FISH研究与DNA流式细胞术在78%的病例中结果一致。FISH数据表明，非整倍体是通过染色体组加倍随后染色体丢失的过程产生的。在显示出一轮以上染色体组加倍证据的肿瘤中，特定染色体或染色体片段多拷贝的选择性积累很常见。在个别肿瘤细胞中，1号、3号和17号染色体着丝粒的多拷贝比7号、11号和16号染色体着丝粒更频繁地被选择性积累。10号和20号染色体着丝粒的多拷贝即使有也很少被选择性积累。使用荧光原位杂交技术可将乳腺癌中的非整倍体分为不同阶段。非整倍体阶段为该疾病的遗传进化提供了潜在的标志，可能与特定染色体的进化变化有关。
