Fiegl M, Zojer N, Kaufmann H, Müllauer L, Schuster R, Huber H, Drach J
First Department of Internal Medicine, Division of Clinical Oncology, University of Vienna, Austria.
Cytometry. 1999 Feb 15;38(1):15-23. doi: 10.1002/(sici)1097-0320(19990215)38:1<15::aid-cyto3>3.0.co;2-c.
Interphase cytogenetics by fluorescence in situ hybridization (FISH) can be used to detect malignant cells characterized by chromosomal aneuploidy. However, apparent aneusomy in normal "control" tissues has to be considered when using FISH as diagnostic tool. In effusions as model tissue exposed to metastasis, the definition of cut-off levels for background aneusomy by FISH was aimed in this study. Using centromeric probes representing chromosomes 7, 8, 11, 12, 17 and 18, extensive chromosome copy number enumeration by single-color FISH analysis was performed in pleural and ascitic effusions derived from 15 patients with various, non-malignant diseases. In all effusions, cells with gain of hybridization signals for several or all chromosomes tested were found (in up to 1.94% of cells). A consistent finding was high grade hyperdiploidy (>4 centromeric signals). Mesothelial elements mainly contributed to hyperdiploidy in effusions, as demonstrated by a combined analysis of FISH and immunocytochemistry with staining for cytokeratin. Dual-color FISH analysis showed that hyperdiploidy was predominantly corresponding to polyploidization; however, there were always minor cell populations classified as aneuploid by dual-color FISH. In conclusion, stringent criteria have to be applied to distinguish malignancy-related aneuploidy from background aneusomy by FISH.
通过荧光原位杂交（FISH）进行的间期细胞遗传学可用于检测以染色体非整倍体为特征的恶性细胞。然而，在将FISH用作诊断工具时，必须考虑正常“对照”组织中明显的非整倍体现象。在作为转移模型组织的积液中，本研究旨在确定FISH背景非整倍体的截断水平定义。使用代表染色体7、8、11、12、17和18的着丝粒探针，通过单色FISH分析对来自15例患有各种非恶性疾病患者的胸腔积液和腹水进行了广泛的染色体拷贝数计数。在所有积液中，均发现了几个或所有测试染色体的杂交信号增加的细胞（高达1.94%的细胞）。一个一致的发现是高度超二倍体（>4个着丝粒信号）。FISH和细胞角蛋白染色免疫细胞化学的联合分析表明，间皮成分主要导致积液中的超二倍体。双色FISH分析表明，超二倍体主要对应于多倍体化；然而，双色FISH总是将少数细胞群体分类为非整倍体。总之，必须应用严格的标准来通过FISH区分与恶性肿瘤相关的非整倍体和背景非整倍体。
