Laboratoire de Biologie des Tumeurs Solides, Département de Pathologie et Oncobiologie, CHU Montpellier, Université de Montpellier, 34295 Montpellier, France.
Unité de Recherche Translationnelle, Institut Régional du Cancer de Montpellier (ICM), 34090 Montpellier, France.
Int J Mol Sci. 2023 Sep 16;24(18):14181. doi: 10.3390/ijms241814181.
The introduction of PARP inhibitors (PARPis) as a treatment option for patients with high-grade serous ovarian cancer (HGSOC) modified the approach of testing worldwide. In this study, we aim to evaluate the impact of and variants on treatment response and survival outcomes in patients diagnosed in our institution.
A total of 805 HGSOC samples underwent and variant detection by using next-generation sequencing (NGS). Among them, a pathogenic alteration was detected in 104 specimens. Clinicopathological features and germline status were recovered, and alteration types were further characterized. The clinical significance of variant type in terms of response to chemotherapy and to PARPis as well as overall survival were evaluated using univariate analysis.
In our cohort, 13.2% of the HGSOC samples harbored a pathogenic or variant, among which 58.7% were inherited. No difference was observed between germline and somatic variants in terms of the gene altered. Interestingly, patients with somatic variants only (no germline) demonstrated better outcomes under PARPi treatment compared to those with germline ones.
The determination of the inheritance or acquisition of and alterations could provide valuable information for improving management strategies and predicting the outcome of patients with HGSOC.
聚腺苷二磷酸核糖聚合酶（PARP）抑制剂作为治疗高级别浆液性卵巢癌（HGSOC）的一种选择，改变了全球的检测方法。本研究旨在评估我们机构诊断的患者中 和 变体对治疗反应和生存结果的影响。
采用下一代测序（NGS）对 805 例 HGSOC 样本进行 和 变体检测。其中，104 例标本检测到致病性改变。恢复了临床病理特征和种系状态，并进一步对改变类型进行了特征描述。使用单因素分析评估变体类型对化疗和 PARPi 反应以及总生存期的临床意义。
在我们的队列中，13.2%的 HGSOC 样本携带致病性 或 变体，其中 58.7%为遗传性。在改变的基因方面，种系和体细胞变体之间没有差异。有趣的是，与具有种系变体的患者相比，仅具有体细胞变体（无种系）的患者在 PARPi 治疗下表现出更好的结果。
确定 和 改变的遗传或获得情况可为改善管理策略和预测 HGSOC 患者的结局提供有价值的信息。
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