Cerrone Margherita, Cantile Monica, Collina Francesca, Marra Laura, Liguori Giuseppina, Franco Renato, De Chiara Annarosaria, Botti Gerardo
Pathology Unit, INT Pascale Foundation, I-80131 Naples, Italy.
Int J Mol Med. 2014 Jun;33(6):1379-91. doi: 10.3892/ijmm.2014.1726. Epub 2014 Apr 4.
Approximately one third of soft tissue tumors are characterized by chromosomal aberrations, in particular, translocations and amplifications, which appear to be highly specific. The identification of fusion transcripts not only supports the diagnosis, but provides the basis for the development of novel therapeutic strategies aimed at blocking the aberrant activity of chimeric proteins. Molecular biology, and in particular, cytogenetic and qualitative and quantitative polymerase chain reaction technologies, allow with high efficiency and specificity, the determination of specific fusion transcripts resulting from chromosomal translocations, as well as the analysis of gene amplifications. In this review, various molecular techniques that allow the identification of translocations and consequent fusion transcripts generated are discussed in the broad spectrum of soft tissue tumors.
大约三分之一的软组织肿瘤具有染色体畸变特征,尤其是易位和扩增,这些畸变似乎具有高度特异性。融合转录本的鉴定不仅有助于诊断,还为开发旨在阻断嵌合蛋白异常活性的新型治疗策略提供了基础。分子生物学,特别是细胞遗传学以及定性和定量聚合酶链反应技术,能够高效且特异地确定由染色体易位产生的特定融合转录本,以及分析基因扩增情况。在这篇综述中,我们讨论了各种能够鉴定易位以及由此产生的融合转录本的分子技术,这些技术涵盖了广泛的软组织肿瘤。