Department of Molecular Pathology, Division of Pathology and Laboratory Medicine, Houston, TX, USA.
Cancer Biomark. 2010;9(1-6):113-32. doi: 10.3233/CBM-2011-0171.
There is strong evidence that multistep tumorigenesis begins with the acquisition of somatic mutations which promote genomic instability. Genomic instability is an important malignant trait because genomic instability can generate the genetic diversity that is necessary for the transforming cell to acquire increasingly variable and aggressive tumor phenotypes. Genomic instability often manifests in the form of chromosomal instability (CIN) leading to the induction of aneuploidy, a phenomenon identified by high resolution molecular cytogenetic techniques. Fluorescent in situ hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH) are two high resolution molecular cytogenetic techniques that allow detection of chromosomal aneuploidy and structural rearrangements occurring in pre-malignant and malignant lesions during tumor progression and invasion. These high resolution molecular cytogenetic techniques are used for genetic screening of single cells in pre-malignant and precursor malignant lesions as well as in exfoliated cells from body fluids and excreta. Consequently, molecular cytogenetic testing offers the promise of an extremely powerful method of risk assessment and early detection of cancer.
有强有力的证据表明，多步骤肿瘤发生始于获得促进基因组不稳定性的体细胞突变。基因组不稳定性是一种重要的恶性特征，因为基因组不稳定性可以产生遗传多样性，这对于转化细胞获得越来越多的可变和侵袭性肿瘤表型是必要的。基因组不稳定性通常表现为染色体不稳定性（CIN），导致非整倍体的诱导，这一现象通过高分辨率分子细胞遗传学技术来识别。荧光原位杂交（FISH）和阵列比较基因组杂交（aCGH）是两种高分辨率分子细胞遗传学技术，允许检测在肿瘤进展和侵袭过程中发生在癌前和恶性病变中的染色体非整倍体和结构重排。这些高分辨率分子细胞遗传学技术用于对癌前和前体恶性病变中的单个细胞以及来自体液和排泄物的脱落细胞进行遗传筛选。因此，分子细胞遗传学检测有望成为一种非常强大的癌症风险评估和早期检测方法。
