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Relation between deletion of chromosome 1p36 and DNA ploidy in breast carcinoma: an interphase cytogenetic study

机译:乳腺癌中染色体1p36缺失与DNA倍性的关系:细胞间期遗传学研究

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摘要

Aims—To investigate whether deletion of the 1p36 region of chromosome 1 is independent of DNA ploidy in breast cancer cells.Methods—Preparations of nuclei from 64 fresh primary breast tumours were studied using dual target fluorescence in situ hybridisation (FISH) combining probes specific for the 1q12 (pUC 1.77) and 1p36 (1p-79) regions of chromosome 1. Signals were counted in 100-300 nuclei and the percentage of cells showing fewer p1-79 than pUC 1.77 signals was measured in each sample. DNA ploidy was investigated by cytofluorimetry in 55 tumour samples.Results—Chromosome 1 aberrations were detected in 56 samples. There were fewer p1-79 than pUC 1.77 signals in 53 samples. The 1p36 region was deleted in 11 samples in which a single p1-79 signal was detected; seven of these samples were diploid. Abnormalities were found in 17/24 diploid and 30/31 aneuploid tumours.Conclusions—Chromosome 1 aberrations, including deletion of the 1p36 region, were observed in diploid breast tumours. Deletion of the 1p36 region may be an early event in tumorigenesis. Given the frequency and importance of chromosome 1 aberrations in the biological behaviour of breast tumours, FISH, used in conjunction with cytofluorimetry, may be helpful for determining prognosis in patients with diploid tumours.
机译:目的-研究乳腺癌细胞中1号染色体1p36区域的缺失是否与DNA倍体无关。方法-采用双靶荧光原位杂交(FISH)结合特异性探针,研究64种新鲜原发性乳腺癌的细胞核制备。在1号染色体的1q12(pUC 1.77)和1p36(1p-79)区域进行计数,在100-300个核中计数信号,并测量每个样品中显示出比pUC 1.77信号少的p1-79信号的细胞百分比。通过细胞荧光分析法对55个肿瘤样品进行了DNA倍性分析。结果-在56个样品中检测到1号染色体畸变。在53个样本中,p1-79信号少于pUC 1.77信号。在11个样本中删除了1p36区域,其中检测到单个p1-79信号。这些样品中有七个是二倍体。在17/24二倍体和30/31非整倍体肿瘤中发现异常。结论—在二倍体乳腺肿瘤中观察到1号染色体畸变,包括1p36区域的缺失。 1p36区域的删除可能是肿瘤发生的早期事件。鉴于1号染色体畸变在乳腺肿瘤生物学行为中的发生频率和重要性,FISH与细胞荧光法结合使用可能有助于确定二倍体肿瘤患者的预后。

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