State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
Center for Stem Cell Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing Road 288, Tianjin 300020, P.R. China.
Biomark Res. 2014 Feb 5;2(1):3. doi: 10.1186/2050-7771-2-3.
Extensive studies of the genetic aberrations related to human diseases conducted over the last two decades have identified recurrent genomic abnormalities as potential driving factors underlying a variety of cancers. Over the time, a series of cutting-edge high-throughput genetic tests, such as microarrays and next-generation sequencing, have been developed and incorporated into routine clinical practice. Although it is a classical low-throughput cytogenetic test, fluorescence in situ hybridization (FISH) does not show signs of fading; on the contrary, it plays an increasingly important role in detecting specific biomarkers in solid and hematologic neoplasms and has therefore become an indispensable part of the rapidly developing field of personalized medicine. In this article, we have summarized the recent advances in FISH application for both de novo discovery and routine detection of chromosomal rearrangements, amplifications, and deletions that are associated with the pathogenesis of various hematopoietic and non-hematopoietic malignancies. In addition, we have reviewed the recent developments in FISH methodology as well.
在过去的二十年中,对与人类疾病相关的遗传异常的广泛研究已经确定了反复出现的基因组异常,这些异常可能是多种癌症的潜在驱动因素。随着时间的推移,一系列先进的高通量基因检测技术,如微阵列和下一代测序技术,已经被开发出来并纳入常规临床实践。虽然荧光原位杂交(FISH)是一种经典的低通量细胞遗传学检测技术,但它并没有显示出衰落的迹象;相反,它在检测实体瘤和血液肿瘤中的特定生物标志物方面发挥着越来越重要的作用,因此已成为快速发展的个性化医学领域不可或缺的一部分。在本文中,我们总结了 FISH 在新发和常规检测与各种血液系统和非血液系统恶性肿瘤发病机制相关的染色体重排、扩增和缺失方面的最新进展。此外,我们还回顾了 FISH 方法学的最新进展。