Planisamy Kaamini, Ctori Elena, Amanuel Benhur, Allanson Emma R, Ayres Chloe, Buck Martin, Howard Giselle, Leung Yee, Meniawy Tarek, Mohan G Raj K A, Nichols Cassandra B, Pallayoor Navin David, Cohen Paul A
Western Australia Gynaecological Cancer Service, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
PathWest Molecular Anatomical Pathology, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, Western Australia, Australia.
Cancer Rep (Hoboken). 2025 Sep;8(9):e70335. doi: 10.1002/cnr2.70335.
Poly-ADP ribose polymerase inhibitors have been shown to improve progression-free survival in patients with advanced high-grade epithelial non-mucinous ovarian cancers characterized by a deficiency in homologous recombination (HRD). Guidelines recommend all patients with advanced high-grade epithelial ovarian cancer undergo genomic tumor testing for HRD. Our aim was to evaluate the first year of HRD testing at the statewide Western Australia Gynecologic Cancer Service to assess factors associated with obtaining a diagnostic HRD testing result.
Retrospective chart review.
HRD testing was indicated in 84 patients, and ordered in 79, of which three had non-diagnostic/inconclusive results, all due to insufficient tumor quantity. One patient had the sample collected using a 20-gauge core biopsy needle under image guidance, one patient following interval debulking surgery, and one following primary debulking surgery. Of 76 patients with an HRD result, HRD was positive in 29 (38.2%). A somatic BRCA mutation was detected in six of these 29 patients (20.6%) and HRD positive, BRCAwt was detected in 23 of 29 patients (79.4%). All core biopsies with 16- and 18-gauge needles had a diagnostic HRD result. Ten of 11 patients who were treated by neoadjuvant chemotherapy and whose biopsies were obtained at interval cytoreductive surgery had sufficient tumor tissue for testing and had a diagnostic HRD result. All ascitic/pleural fluid samples sent for HRD testing yielded diagnostic results.
Compliance with HRD testing was high, and only three of 79 (3.8%) patients had non-diagnostic results.
聚-ADP核糖聚合酶抑制剂已被证明可改善以同源重组缺陷（HRD）为特征的晚期高级别上皮性非黏液性卵巢癌患者的无进展生存期。指南建议所有晚期高级别上皮性卵巢癌患者接受HRD的基因组肿瘤检测。我们的目的是评估西澳大利亚州妇科癌症服务机构第一年的HRD检测情况，以评估与获得诊断性HRD检测结果相关的因素。
回顾性病历审查。
84例患者被建议进行HRD检测，79例患者进行了检测，其中3例结果为非诊断性/不确定，均因肿瘤组织量不足。1例患者在图像引导下使用20号活检针采集样本，1例患者在间隔减瘤手术后采集，1例患者在初次减瘤手术后采集。在76例有HRD检测结果的患者中，29例（38.2%）HRD呈阳性。这29例患者中有6例（20.6%）检测到体细胞BRCA突变且HRD呈阳性，29例患者中有23例（79.4%）HRD呈阳性但BRCA野生型。所有使用16号和18号针进行的芯针活检均获得了诊断性HRD结果。11例接受新辅助化疗且在间隔细胞减灭术时进行活检的患者中有10例有足够的肿瘤组织进行检测并获得了诊断性HRD结果。所有送检HRD检测的腹水/胸水样本均获得了诊断性结果。
HRD检测的依从性较高，79例患者中只有3例（3.8%）结果为非诊断性。
