Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA.
Curr Opin Genet Dev. 2012 Jun;22(3):264-71. doi: 10.1016/j.gde.2012.01.005. Epub 2012 Feb 13.
The cytogenetic evaluation of hematologic disease can confirm a diagnosis, determine treatment options, and provide prognostic information to the patient. Among the potential cytogenetic aberrations that can be identified are certain balanced translocations with recurrent breakpoints that provide disease classification and define the sites of disease-causing or disease-promoting genes. In this review, we discuss the importance of balanced translocation identification, the methods traditionally used to identify balanced translocations in the cytogenetics laboratory, and the application of new methodologies such as next generation (NextGen) sequencing and array-based translocation identification through a linear amplification application. These new technologies have the potential to identify all currently known diagnostically and prognostically important rearrangements as well as novel alterations that may provide new therapeutic targets to enhance treatment of hematologic disease.
血液疾病的细胞遗传学评估可以确认诊断、确定治疗方案，并为患者提供预后信息。可以识别的潜在细胞遗传学异常包括某些具有反复断裂点的平衡易位，这些易位提供疾病分类并定义致病或促进疾病的基因位点。在这篇综述中，我们讨论了平衡易位鉴定的重要性、传统上用于在细胞遗传学实验室中鉴定平衡易位的方法，以及通过线性扩增应用的下一代（NextGen）测序和基于阵列的易位鉴定等新方法的应用。这些新技术有可能识别所有目前已知的具有诊断和预后重要性的重排以及可能提供新的治疗靶点以增强血液疾病治疗的新的改变。
