Pepe Francesco, Russo Gianluca, Cefaliello Amedeo, Lamia Maria Rosaria, Buonaiuto Roberto, Crimaldi Giuseppina, Scimone Claudia, Palumbo Lucia, Roscigno Giuseppina, Parente Paola, De Finis Maria Chiara, Fiordelisi Fabiola, Marchetti Claudia, Giampaolino Pierluigi, De Angelis Carmine, Bianco Roberto, Troncone Giancarlo, Malapelle Umberto
Department of Public Health, Federico II University of Naples, Naples, Italy.
Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy.
Pathologica. 2025 Jun;117(3):258-268. doi: 10.32074/1591-951X-1098.
Recently, precision medicine has drastically modified clinical paradigm for the clinical stratification of high-grade serous ovarian cancer (HGSOC) patients. International societies approved poly (ADP-ribose) polymerase (PARP) inhibitors (PARPIs) to treat platinum-sensitive defective HGSOC patients. Beyond , functional defects in homologous recombination repair (HRR) proteins laid the basis for genomic instability evaluation in HGSOC patients. Given that measurement of homologous recombination deficiency (HRD) is extremely complex molecular analysis is outsourced. Of note, this diagnostic algorithm is affected by inconclusive results and high rejection rates. Here, we review the molecular results of and HRD analysis from referral institution in predictive molecular pathology.
From May 2023 to Jan 2024 molecular records from 147 HGSOC patients simultaneously tested for and HRD measurement were inspected. A commercially available next-generation sequencing (NGS) panel (Amoy Diagnostics Co Ltd, Xiamen, Fujian, China) was adopted to internally perform molecular analysis on formalin-fixed paraffin-embedded (FFPE) samples. In a subset of patients clinical records were matched with molecular results.
Overall, 2 out of 147 (1.3%) cases were morphologically classified as inadequate. Simultaneous - HRD analysis was successfully assessed in 112 out of 145 (77.2%) patents. Molecular analysis revealed 7 out of 112 (6.2%) and 2 out of 112 (1.8%) pathogenetic or likely pathogenetic (class I-II) and variants of uncertain significance (VUS) (class III) molecular alterations, respectively. HRD score was positive in 48 out of 112 (42.8%) HGSOC patients.
HRD testing is a reliable method for the clinical management of HGSOC patients.
近年来，精准医学极大地改变了高级别浆液性卵巢癌（HGSOC）患者临床分层的临床模式。国际协会批准了聚（ADP - 核糖）聚合酶（PARP）抑制剂（PARPIs）用于治疗铂敏感的缺陷型HGSOC患者。此外，同源重组修复（HRR）蛋白的功能缺陷为HGSOC患者的基因组不稳定性评估奠定了基础。鉴于同源重组缺陷（HRD）的检测是极其复杂的分子分析，通常外包进行。值得注意的是，这种诊断算法受到不确定结果和高拒绝率的影响。在此，我们回顾了预测分子病理学转诊机构的[具体内容]和HRD分析的分子结果。
检查了2023年5月至2024年1月期间147例同时进行[具体内容]检测和HRD测量的HGSOC患者的分子记录。采用市售的下一代测序（NGS）面板（厦门艾德生物医药科技股份有限公司，中国福建厦门）对福尔马林固定石蜡包埋（FFPE）样本进行内部分子分析。在一部分患者中，将临床记录与分子结果进行匹配。
总体而言，147例中有2例（1.3%）形态学分类为不充分。145例患者中有112例（77.2%）成功进行了同时的[具体内容] - HRD分析。分子分析分别在112例中的7例（6.2%）和112例中的2例（1.8%）中发现了致病或可能致病（I - II类）以及意义未明的变异（VUS，III类）分子改变。112例HGSOC患者中有48例（42.8%）的HRD评分呈阳性。
HRD检测是HGSOC患者临床管理的可靠方法。
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