Heitz Florian, Ataseven Beyhan, Staniczok Claudia, Denkert Carsten, Rhiem Kerstin, Hahnen Eric, Heikaus Sebastian, Moubarak Malak, Welz Julia, Dagres Timoleon, Vrentas Vasilios, Bommert Mareike, Schneider Stephanie, Concin Nicole, Harter Philipp
Klinik für Gynäkologie und Gynäkologische Onkologie, Evangelische Kliniken Essen Mitte, 45136 Essen, Germany.
Klinik für Gynäkologie mit dem Center für Onkologische Operative Therapie, Charité Campus, Virchowklinikum, Charité-Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt Universität zu Berlin, Berlin Institut of Health, 13353 Berlin, Germany.
Cancers (Basel). 2023 Jan 29;15(3):818. doi: 10.3390/cancers15030818.
The chemotherapy backbone for patients with high-grade advanced epithelial ovarian cancer (HG-AOC) is carboplatin and paclitaxel followed by a maintenance therapy either with bevacizumab, with a PARP inhibitor, or with a combination of both, which is defined by the presence of a homologous recombination deficiency (HRD) and by the status. This study included patients with a primary diagnosis of HG-AOC treated between December 2019 and December 2021. The HRD status was measured using the Myriad myChoice test on all the patients with an indication for tumor HRD testing. Germline testing was conducted on all the patients using the TruRisk panel as recommended by the national guidelines. HRD testing was requested for 190 patients, and, for 163 patients (85.8%), an HRD test result was available. An HRD test result could not be reported in 27 patients due to an insufficient tumor yield. The median time that it took to receive the HRD test results was 37 days (range of 8-97). In total, an HRD was present in 44.7% (73/163) of the patients based on a GIS ≥ 42 in 42.9% of the patients and based on a tumor mutation in 3 cases (all with a GIS < 42). The germline testing results were available for 148 patients, and, in 18 patients (12.2%), a deleterious germline mutation was detected. Of the 27 patients without sufficient HRD testing, germline testing results were available for 19 patients (70.4%), and a deleterious germline mutation was detected in 2 patients (7.4%). The implementation of HRD testing is feasible, and the results become available for treatment decisions in a timely manner for most patients. The prerequisite for HRD testing with the Myriad myChoice test is a sufficient amount of tumor tissue. The cotesting of HRD and germline testing should be aimed for in order to enable optimal and timely treatment decisions on maintenance therapy as well as to test patients on whom the HRD test will not be evaluable.
对于高级别晚期上皮性卵巢癌(HG-AOC)患者,化疗的主要方案是卡铂和紫杉醇,随后根据同源重组缺陷(HRD)的存在情况及状态进行维持治疗,可选择贝伐单抗、PARP抑制剂或两者联合使用。本研究纳入了2019年12月至2021年12月期间初诊为HG-AOC的患者。对所有有肿瘤HRD检测指征的患者使用Myriad myChoice检测来测定HRD状态。按照国家指南的建议,对所有患者使用TruRisk检测板进行胚系检测。190例患者被要求进行HRD检测,其中163例患者(85.8%)获得了HRD检测结果。27例患者因肿瘤样本量不足无法报告HRD检测结果。获得HRD检测结果的中位时间为37天(范围为8 - 97天)。总体而言,基于基因组不稳定性评分(GIS)≥42,42.9%的患者存在HRD;基于肿瘤突变,3例患者存在HRD(所有患者GIS均<42)。148例患者获得了胚系检测结果,其中18例患者(12.2%)检测到有害的胚系突变。在27例未进行充分HRD检测的患者中,19例患者(70.4%)获得了胚系检测结果,其中2例患者(7.4%)检测到有害的胚系突变。实施HRD检测是可行的,并且对于大多数患者而言,检测结果能够及时用于治疗决策。使用Myriad myChoice检测进行HRD检测的前提是要有足够的肿瘤组织。应同时进行HRD检测和胚系检测,以便能够就维持治疗做出最佳且及时的治疗决策,并对无法进行HRD检测评估的患者进行检测。