Laboratory of Translational Research, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Pathology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Int J Mol Sci. 2021 Apr 29;22(9):4732. doi: 10.3390/ijms22094732.
The cytogenetic and molecular assessment of deletions, amplifications and rearrangements are key aspects in the diagnosis and therapy of cancer. Not only the initial evaluation and classification of the disease, but also the follow-up of the tumor rely on these laboratory approaches. The therapeutic choice can be guided by the results of the laboratory testing. Genetic deletions and/or amplifications directly affect the susceptibility or the resistance to specific therapies. In an era of personalized medicine, the correct and reliable molecular characterization of the disease, also during the therapeutic path, acquires a pivotal role. Molecular assays like multiplex ligation-dependent probe amplification and droplet digital PCR represent exceptional tools for a sensitive and reliable detection of genetic alterations and deserve a role in molecular oncology. In this manuscript we provide a technical comparison of these two approaches with the golden standard represented by fluorescence in situ hybridization. We also describe some relevant targets currently evaluated with these techniques in solid and hematologic tumors.
细胞遗传学和分子评估的缺失、扩增和重排是癌症诊断和治疗的关键方面。这些实验室方法不仅用于疾病的初始评估和分类，也用于肿瘤的随访。治疗选择可以通过实验室检测结果来指导。遗传缺失和/或扩增直接影响对特定治疗的敏感性或耐药性。在个性化医疗时代，正确和可靠的疾病分子特征描述，即使在治疗过程中，也具有至关重要的作用。多重连接依赖探针扩增和液滴数字 PCR 等分子检测是一种敏感且可靠的遗传改变检测方法，在肿瘤分子学中具有重要作用。在本文中，我们将这两种方法与荧光原位杂交的金标准进行了技术比较。我们还描述了目前在实体瘤和血液系统肿瘤中使用这些技术评估的一些相关靶点。
