Behjati Farkhondeh, Atri Morteza, Najmabadi Hossein, Nouri Keramat, Zamani Mahdi, Mehdipour Parvin
Department of Medical Genetics, Cancer Institute, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Pathol Oncol Res. 2005;11(3):157-63. doi: 10.1007/BF02893392. Epub 2005 Sep 29.
Breast cancer is amongst the leading causes of death in women worldwide and the most common cancer amongst Iranian women. Unfortunately, the current clinical and histological criteria can only help 60 percent of women with breast cancer in diagnosis and long-term treatment. Therefore, genetic markers both at single gene and chromosomal level can play an important role in improving the diagnosis and prognosis of breast cancer patients. The aim of this retrospective study was to investigate the role of chromosome 1 and 8 copy number assessed by interphase fluorescence in situ hybridization (FISH), as prognostic parameters in 50 Iranian women, aged 35 to 64 years, with sporadic invasive ductal breast carcinoma. Chromosome 1 and 8 copy numbers were evaluated in relation to established clinicopathological parameters, the immunohistochemical markers ER, PR, P53 and cathepsin D, DNA index by flow cytometry, age and survival status of the patients. FISH using centromeric probes for chromosomes 1 and 8 was applied to interphase cell suspensions prepared from archived, Carnoyfixed tumor cells and selected paraffin-embedded tumor sections. Aneusomy for chromosomes 1 and 8 was present in all 50 patients to different levels. The total abnormality rate for chromosome 1 was 33.92 percent (4.24 percent monosomy and 29.68 percent polysomy), whereas for chromosome 8 this rate was 28.30 percent (6.48 percent monosomy and 21.82 percent polysomy). Statistically significant association (p<0.05) was demonstrated between monosomy 1 and patients' age below 50 years, and between monosomy 1 and poor survival, respectively. Disomy 8 was significantly associated with P53 expression. A borderline significant correlation was demonstrated between polysomy 8 and diploid DNA content, as well as between disomy 1 and disease-free status of the patients. Chromosome 1 and 8 copy numbers may be considered as useful prognostic markers in invasive ductal carcinoma of the breast.
乳腺癌是全球女性主要死因之一,也是伊朗女性中最常见的癌症。不幸的是,目前的临床和组织学标准仅能帮助60%的乳腺癌女性进行诊断和长期治疗。因此,单基因和染色体水平的遗传标记在改善乳腺癌患者的诊断和预后方面可发挥重要作用。这项回顾性研究的目的是调查通过间期荧光原位杂交(FISH)评估的1号和8号染色体拷贝数在50名年龄在35至64岁、患有散发性浸润性导管癌的伊朗女性中作为预后参数的作用。评估了1号和8号染色体拷贝数与既定的临床病理参数、免疫组化标记物雌激素受体(ER)、孕激素受体(PR)、P53和组织蛋白酶D、通过流式细胞术检测的DNA指数、患者年龄和生存状况之间的关系。使用针对1号和8号染色体的着丝粒探针进行FISH,应用于从存档的、经卡诺氏固定的肿瘤细胞和选定的石蜡包埋肿瘤切片制备的间期细胞悬液。所有50名患者中均存在不同程度的1号和8号染色体非整倍体。1号染色体的总异常率为33.92%(单体型为4.24%,多体型为29.68%),而8号染色体的这一比率为28.30%(单体型为6.48%,多体型为21.82%)。分别在1号染色体单体型与50岁以下患者年龄之间以及1号染色体单体型与不良生存之间显示出统计学显著关联(p<0.05)。8号染色体二体与P53表达显著相关。8号染色体多体与二倍体DNA含量之间以及1号染色体二体与患者无病状态之间显示出临界显著相关性。1号和8号染色体拷贝数可被视为乳腺浸润性导管癌有用的预后标志物。