Pénzváltó Zsófia, Mihály Zsuzsanna, Gyorffy Balázs
Magyar Tudományos Akadémia és Semmelweis Egyetem Gyermekgyógyászati és Nefrológiai Kutatócsoportja I. Gyermekklinika 1083 Budapest Bókay u. 53/54.
Magy Onkol. 2009 Dec;53(4):351-9. doi: 10.1556/MOnkol.53.2009.4.4.
Patient tailored therapy will serve the fundamentals of future cancer treatment. For this it will be imperative to characterize the tumor and to acquire precise predictive and prognostic information. We can achieve this by using not only monogenic (like ER, PR, HER-2, Ki-67) but also multigene assays, which can provide answers to several diagnostic questions simultaneously. We present a summary of currently available RT-PCR and microarray based multigene tests including MammaPrint, Oncotype DX, BLN Assay, Theros Breast Cancer Index SM, MapQuant DX, ARUP Breast Bioclassifier, Celera Metastatic Score, eXagen BCtm, Invasive Gene Signature, Wound Response Indicator and Mammostrat. Two of these (Oncotype DX and MammaPrint) are already incorporated in several diagnostic protocols. However, multiple unsolved issues deteriorate the value of these tests: generally the validation is poor, the gene sets do not confirm each other, the associated costs are high and the necessary bioinformatics is highly complex.
针对患者的个性化治疗将成为未来癌症治疗的基础。为此,必须对肿瘤进行特征描述并获取精确的预测和预后信息。我们不仅可以通过使用单基因检测(如雌激素受体、孕激素受体、人表皮生长因子受体2、Ki-67),还可以通过多基因检测来实现这一点,多基因检测能够同时回答多个诊断问题。我们总结了目前可用的基于逆转录聚合酶链反应(RT-PCR)和微阵列的多基因检测方法,包括MammaPrint、Oncotype DX、BLN检测、Theros乳腺癌指数SM、MapQuant DX、ARUP乳腺生物分类器、Celera转移评分、eXagen BCtm、侵袭性基因特征、伤口反应指标和Mammostrat。其中两种(Oncotype DX和MammaPrint)已被纳入多个诊断方案。然而,多个未解决的问题降低了这些检测的价值:总体而言,验证效果不佳,基因集之间无法相互印证,相关成本高昂,且所需的生物信息学高度复杂。