Sidransky D
Johns Hopkins University School of Medicine, Department of Otolaryngology-Head and Neck Surgery, Baltimore, MD 21205-2196, USA.
J Natl Cancer Inst Monogr. 1995(17):27-9.
Clonal genetic alterations are a hallmark of human cancer pathogenesis. These genetic alterations may include specific gene mutations that drive the cancer process or phenotypic changes such as microsatellite instability that may be caused by specific genetic events. Identification of clonal cell populations that share a specific genetic alteration is virtually synonymous with the detection of cancer. These clonal cells can be detected among a large population of normal cells from limited clinical samples by DNA amplification techniques. Because of their unprecedented sensitivity and specificity, these approaches offer new hope for the early diagnosis of human cancer.
克隆性基因改变是人类癌症发病机制的一个标志。这些基因改变可能包括驱动癌症进程的特定基因突变，或可能由特定基因事件引起的表型变化，如微卫星不稳定性。识别共享特定基因改变的克隆细胞群体实际上等同于癌症检测。通过DNA扩增技术，可以在来自有限临床样本的大量正常细胞中检测到这些克隆细胞。由于其前所未有的敏感性和特异性，这些方法为人类癌症的早期诊断带来了新希望。
