Lanjouw Lieke, Bart Joost, Mourits Marian J E, Willems Stefan M, van der Hout Annemieke H, Ter Elst Arja, de Bock Geertruida H
Department of Epidemiology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Cancers (Basel). 2024 Apr 26;16(9):1682. doi: 10.3390/cancers16091682.
Analyzing tumor pathogenic variants (TPVs) in epithelial tubal/ovarian cancers (EOCs) has become an essential part of the diagnostic workflow in many centers to guide treatment options and genetic cascade testing. However, there is no standardization of testing procedures, including techniques, gene assays, or sequencers used, and data on the execution of tumor tests remains scarce. Therefore, we evaluated characteristics of tumor testing in advanced-stage EOC with real-world national data. Pathology reports of patients diagnosed with EOC in 2019 in the Netherlands were obtained from the Dutch Pathology Registry (PALGA), and data regarding histological subtype and tumor tests were extracted. A total of 999 patients with advanced-stage EOC were included. Tumor tests were performed for 502 patients (50.2%) and TPVs were detected in 14.7%. Of all tests, 48.6% used hybrid capture techniques and 26.5% used PCR-based techniques. More than half of the tests (55.0%) analyzed other genes in addition to . Overall, this study highlights the heterogeneity in the execution of tumor tests. Despite a lack of evidence of quality differences, we emphasize that adequate reporting and internal and external quality monitors are essential for the high-quality implementation and execution of reliable tumor testing, which is crucial for identifying all patients with TPVs.
分析上皮性输卵管/卵巢癌（EOC）中的肿瘤致病变异（TPV）已成为许多中心诊断流程的重要组成部分，以指导治疗方案和基因级联检测。然而，检测程序没有标准化，包括所使用的技术、基因检测方法或测序仪，关于肿瘤检测执行情况的数据仍然很少。因此，我们利用全国实际数据评估了晚期EOC肿瘤检测的特征。从荷兰病理登记处（PALGA）获取了2019年在荷兰被诊断为EOC的患者的病理报告，并提取了有关组织学亚型和肿瘤检测的数据。总共纳入了999例晚期EOC患者。对502例患者（50.2%）进行了肿瘤检测，其中14.7%检测到TPV。在所有检测中，48.6%使用了杂交捕获技术，26.5%使用了基于PCR的技术。超过一半的检测（55.0%）除了……还分析了其他基因。总体而言，本研究突出了肿瘤检测执行情况的异质性。尽管缺乏质量差异的证据，但我们强调，充分的报告以及内部和外部质量监测对于高质量实施和执行可靠的肿瘤检测至关重要，这对于识别所有携带TPV的患者至关重要。
