Ortiz-Brüchle N, Muders M, Toma M, Esposito I, Hartmann A, Stöhr R, Reis H, Wild P, Köllermann J, Bremmer F, Leichsenring J, Stenzinger A, Merkelbach-Bruse S, Kirfel S, Perner S, Hartmann N, Roth W, Jung A, Kirchner T, Schwamborn K, Pfarr N, Dahl E, Knüchel R, Gaisa N T
Institut für Pathologie, Uniklinikum, RWTH Aachen, Pauelsstraße 30, 52074, Aachen, Deutschland.
Institut für Pathologie, Universitätsklinikum Bonn, Bonn, Deutschland.
Urologe A. 2020 Mar;59(3):318-325. doi: 10.1007/s00120-019-01046-2.
Technical advancement and availability of high-throughput analysis has advanced molecular subtyping of most cancers. Thus, new possibilities for precision oncology have emerged.
Therefore, we aimed to collect data regarding availability and use of next generation sequencing (NGS) for urothelial cancer within the uropathology working group of the German Society of Pathology.
We collected data by questionnaires and additionally asked for sequencing results of bladder cancers in the participating institutions.
A total of 13 university-affiliated institutes of pathology took part in the survey. All university institutes offer NGS-based molecular panel diagnostics and provide panels covering between 15 and 170 genes. Altogether, only 20 bladder cancers were sequenced in routine diagnostics and for 10 cancers potential targeted treatment options were available.
So far, despite availability of NGS diagnostics at university institutes of pathology, only few bladder cancer samples have been sequenced. Based on current data from the molecular subtyping of bladder cancers, we recommend a step-by-step protocol with basic immunohistochemistry analysis and subsequent subtype-dependent analyses, e.g., alterations of the fibroblast growth factor receptors (FGFR) or comprehensive gene panel analyses.
技术进步和高通量分析的可用性推动了大多数癌症的分子亚型分类。因此,精准肿瘤学出现了新的可能性。
因此,我们旨在收集德国病理学会泌尿病理学工作组内尿路上皮癌下一代测序(NGS)的可用性和使用情况的数据。
我们通过问卷调查收集数据,并额外询问了参与机构中膀胱癌的测序结果。
共有13家大学附属病理研究所参与了调查。所有大学研究所都提供基于NGS的分子 panel 诊断,并提供涵盖15至170个基因的 panel。在常规诊断中,总共仅对20例膀胱癌进行了测序,其中10例癌症有潜在的靶向治疗选择。
到目前为止,尽管大学病理研究所可进行NGS诊断,但仅对少数膀胱癌样本进行了测序。基于目前膀胱癌分子亚型分类的数据,我们推荐一种逐步方案,包括基础免疫组织化学分析以及随后的亚型依赖性分析,例如成纤维细胞生长因子受体(FGFR)的改变或全面的基因 panel 分析。