Jaeger Bernadette Anna Sophia, Krawczyk Natalia, Japp Anna Sophia, Honisch Ellen, Köhrer Karl, Scheuring Sibylle, Petzsch Patrick, Neubauer Hans, Volkmer Anne Kathrin, Esposito Irene, Ruckhäberle Eugen, Niederacher Dieter, Fehm Tanja
Department of Obstetrics and Gynecology, University Hospital and Medical Faculty of the Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Institute of Pathology, University Hospital and Medical Faculty of the Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Geburtshilfe Frauenheilkd. 2023 Sep 12;83(9):1138-1147. doi: 10.1055/a-2150-9440. eCollection 2023 Sep.
The purpose of this feasibility study was to select targeted therapies according to "ESMO Scale for Clinical Actionability of molecular Targets (ESCAT)". Data interpretation was further supported by a browser-based Treatment Decision Support platform (MH Guide, Molecular Health, Heidelberg, Germany).
We applied next generation sequencing based whole exome sequencing of tumor tissue and peripheral blood of patients with metastatic breast cancer (n = 44) to detect somatic as well as germline mutations.
In 32 metastatic breast cancer patients, data interpretation was feasible. We identified 25 genomic alterations with ESCAT Level of Evidence I or II in 18/32 metastatic breast cancer patients, which were available for evaluation: three copy number gains in , two g , two g , six one , three , one and two mutations. In addition, five samples displayed Microsatellite instability high-H.
Resulting treatment options were discussed in a tumor board and could be recommended in a small but relevant proportion of patients with metastatic breast cancer (7/18). Thus, this study is a valuable preliminary work for the establishment of a molecular tumor board within the German initiative "Center for Personalized Medicine" which aims to shorten time for analyses and optimize selection of targeted therapies.
本可行性研究的目的是根据“分子靶点临床可操作性的ESMO量表(ESCAT)”选择靶向治疗方法。基于浏览器的治疗决策支持平台(MH指南,德国海德堡分子健康公司)进一步支持了数据解读。
我们对转移性乳腺癌患者(n = 44)的肿瘤组织和外周血进行了基于新一代测序的全外显子组测序,以检测体细胞和种系突变。
在32例转移性乳腺癌患者中,数据解读是可行的。我们在18/32例转移性乳腺癌患者中鉴定出25个具有ESCAT证据水平I或II的基因组改变,可用于评估: 中的三个拷贝数增加、两个g 、两个g 、六个 、一个 、三个 、一个 以及两个 突变。此外,五个样本显示微卫星高度不稳定-H。
在肿瘤专家委员会中讨论了由此产生的治疗方案,并可在一小部分但相关比例的转移性乳腺癌患者(7/18)中推荐。因此,本研究是德国“个性化医学中心”倡议中建立分子肿瘤专家委员会的一项有价值的初步工作,该倡议旨在缩短分析时间并优化靶向治疗的选择。