The use of genetic instability as a clinical tool for cancer diagnosis.
The use of genetic instability as a clinical tool for cancer diagnosis.
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使用遗传不稳定性作为癌症诊断的临床工具。
DOI：
10.1006/scbi.1998.0122
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发表时间：
1998
影响因子：
14.5
通讯作者：
Philippe Anker
中科院分区：
文献类型：
--
作者：
Roberta A.U. Bevilacqua;Diana N. Nunes;M. Stroun;Philippe Anker
人类肿瘤表现出两个基本的重要特征，广泛的遗传变异和克隆性。尽管与正常组织相比，肿瘤具有升高的突变负荷的程度仍不清楚，但其克隆性导致其易于检测。因此，测定组织中频繁突变的微卫星位点的克隆改变代表了一种可行的癌症诊断方法。这一概念最显著的延伸是，不仅可以在生物样品中检测到癌细胞，而且还可以在患有某些形式癌症的患者的血清或血浆中直接检测到肿瘤DNA。这一最新发现目前正在探索中，但可能对未来的诊断策略做出重要贡献。
Human tumors exhibit two fundamentally important characteristics, extensive genetic alteration and clonality. Although it is still unclear to what extent tumors have an elevated mutational burden as compared with normal tissue, their clonality results in their ready detection. Thus, assaying tissues for clonal alterations at frequently mutated microsatellite loci represents a viable approach to cancer diagnosis. The most remarkable extension of this concept is that not only can cancer cells be detected in biological samples, but tumor DNA can also be directly detected in the serum or plasma of patients with some forms of cancer. This recent finding is currently being explored but may represent an important contribution to future diagnostic strategies.