Heining C, Horak P, Gröschel S, Glimm H, Fröhling S
Abteilung für Translationale Onkologie, Nationales Centrum für Tumorerkrankungen Heidelberg, Im Neuenheimer Feld 460, 69120, Heidelberg, Deutschland.
Radiologe. 2017 Oct;57(10):804-811. doi: 10.1007/s00117-017-0297-9.
Innovative next generation sequencing (NGS) technologies and comprehensive sequencing investigations in large patient cohorts have paved the way for very promising personalized treatment strategies based on the molecular characteristics of individual tumors.
Targeted therapies, such as tyrosine kinase inhibitors, antibodies and modern immunotherapeutic approaches are well established as monotherapy and combination therapy for many hematological and oncological malignancies.
A plethora of innovative therapies targeting various components of intracellular signaling cascades and effective mechanisms against oncogenes as well as the availability of NGS technologies enable personalized cancer treatment based on the molecular profiles of individual tumors and genetic stratification, within clinical trials.
DIAGNOSTIC WORK-UP: Comprehensive genetic approaches including cancer gene panel sequencing, whole exome, whole genome and transcriptome sequencing are carried out to a varying extent and particularly in the academic setting.
Principally, a comprehensive characterization of tumors in addition to DNA and RNA sequencing that also incorporates epigenetic, metabolomic, and proteomic alterations would be desirable. A comprehensive clinical implementation of integrative, multidimensional genetic typing is, however, currently not possible.
It remains to be demonstrated whether these approaches will translate into significantly better outcomes for patients and whether they can be increasingly implemented in the routine diagnostic work-up.
The selection of diagnostic tools in individual cases and the extent of genomic analyses in the clinical context, need to take the availability of methods as well as the present clinical situation into account.
创新的下一代测序(NGS)技术以及对大量患者队列进行的全面测序研究,为基于个体肿瘤分子特征的极具前景的个性化治疗策略铺平了道路。
靶向疗法,如酪氨酸激酶抑制剂、抗体和现代免疫治疗方法,已被广泛确立为许多血液系统和肿瘤恶性疾病的单药治疗和联合治疗方案。
大量针对细胞内信号级联反应各个成分的创新疗法、对抗癌基因的有效机制以及NGS技术的可用性,使得在临床试验中能够基于个体肿瘤的分子图谱和基因分层进行个性化癌症治疗。
不同程度地开展了包括癌症基因panel测序、全外显子组、全基因组和转录组测序在内的全面基因检测方法,尤其在学术环境中。
原则上,除了DNA和RNA测序外,对肿瘤进行全面表征,还纳入表观遗传、代谢组学和蛋白质组学改变,将是理想的。然而,目前还无法全面临床实施整合的多维基因分型。
这些方法是否会为患者带来显著更好的治疗效果,以及它们是否能越来越多地应用于常规诊断检查,仍有待证明。
在个别病例中选择诊断工具以及临床环境中基因组分析的范围,需要考虑方法的可用性以及当前的临床情况。