Harsimran Kaur, Kaur Monga Gaganpreet, Nitika Setia, Meena Sudan, M S Uppal, A P S Batra, Vasudha Sambyal
Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab-143 005, India.
Indian J Hum Genet. 2009 Jan;15(1):13-8. doi: 10.4103/0971-6866.50864.
Genomic instability in the tumor tissue has been correlated with tumor progression. In the present study, chromosomal aberrations (CAs) in peripheral blood lymphocytes (PBLs) of breast tumor patients were studied to assess whether chromosomal instability (CIN) in PBLs correlates with aggressiveness of breast tumor (i.e., disease stage) and has any prognostic utility. Cultured blood lymphocyte metaphases were scored for aberrations in 31 breast cancer patients and 20 healthy age and sex-matched controls. A variety of CAs, including aneuploidy, polyploidy, terminal deletions, acentric fragments, double minutes, chromatid separations, ring chromosome, marker chromosome, chromatid gaps, and breaks were seen in PBLs of the patients. The CAs in patients were higher than in controls. A comparison of the frequency of metaphases with aberrations by grouping the patients according to the stage of advancement of disease did not reveal any consistent pattern of variation in lymphocytic CIN. Neither was any specific chromosomal abnormality found to be associated with the stage of cancer. This might be indicative of the fact that cancer patients have constitutional CIN, which predisposes them to the disease, and this inherent difference in the level of genomic instability might play a role in disease progression and response to treatment.
肿瘤组织中的基因组不稳定性与肿瘤进展相关。在本研究中，对乳腺肿瘤患者外周血淋巴细胞（PBL）中的染色体畸变（CA）进行了研究，以评估PBL中的染色体不稳定性（CIN）是否与乳腺肿瘤的侵袭性（即疾病分期）相关，以及是否具有任何预后价值。对31例乳腺癌患者和20例年龄和性别匹配的健康对照的培养血淋巴细胞中期进行了畸变评分。在患者的PBL中观察到了多种CA，包括非整倍体、多倍体、末端缺失、无着丝粒片段、双微体、染色单体分离、环状染色体、标记染色体、染色单体间隙和断裂。患者中的CA高于对照组。根据疾病进展阶段对患者进行分组，比较有畸变的中期频率，未发现淋巴细胞CIN有任何一致的变化模式。也未发现任何特定的染色体异常与癌症分期相关。这可能表明癌症患者存在先天性CIN，这使他们易患该疾病，而这种基因组不稳定性水平的固有差异可能在疾病进展和对治疗的反应中起作用。
