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研究领域生物医学和临床科学瘤学和致癌症预测和预后标志物
基因组不稳定性和CCNE1放大作为分层高度血清卵巢癌的新兴生物标志物

基因组不稳定性和CCNE1放大作为分层高度血清卵巢癌的新兴生物标志物

Elena Conca ¹, Daniele Lorenzini ^1,2, Emanuela Minna ¹, Luca Agnelli ¹, Matteo Duca ³, Marco Gentili ⁴, Beatrice Bodini ⁴, Maggie Polignano ⁵, Mara Mantiero ⁵, Silvia Damian ², Andrea Devecchi ¹, Gianpaolo Dagrada ¹, Rita Carminati ¹, Alice Ardore ¹, Francesca Barbetta ¹, Nathalia Brito Da Chuna ¹, Andrea Guerrizio ¹, Adele Busico ¹, Iolanda Capone ¹, Alberta Piccolo ¹, Elena Tamborini ¹, Federica Perrone ¹, Massimo Milione ⁴, Biagio Paolini ⁴, Andrea Vingiani ^1,2, Francesco Raspagliesi ^2,5, Filippo De Braud ^2,3, Giancarlo Pruneri ^1,2

Elena Conca ¹, Daniele Lorenzini ^1,2, Emanuela Minna ¹

¹Department of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori, Milano, Italy.
²Department of Oncology and Hemato-Oncology, University of Milan, Milano, Italy.
³Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori, Milano, Italy.
⁴Department of Pathology and Laboratory Medicine, Pathology Unit 1, Fondazione IRCCS Istituto Nazionale Dei Tumori, Milano, Italy.
⁵Gynecologic Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.

⁰Department of Diagnostic Innovation, Pathology Unit 2, Fondazione IRCCS Istituto Nazionale Dei Tumori, Milano, Italy.

Frontiers in Oncology +

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2025年八月22日

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在PubMed上查看摘要

概括

此摘要是机器生成的。

高度血清卵巢癌患者的基因组不稳定性和CCNE1放大是有前途的生物标志物. 这项研究证实了它们对HR熟练的HGSC个性化治疗策略的临床实用性.

科学领域

癌症学
基因组学
生物标志物发现

背景情况

卵巢癌仍然是女性癌症死亡的主要原因.
PARP 抑制剂可以改善 BRCA1/ 2 突变或 HRD 高度血清卵巢癌 (HGSC) 的存活率.
对于BRCA1/2野生类型/HR熟练的HGSC存在有限的选择,通常对治疗有抗性.

研究的目的

评估HGSC患者的综合基因组分析 (CGP).
评估基因组不稳定性指标 (GIM) 和CCNE1放大作为生物标志物的有用性.
探索人力资源专业HGSC的个性化治疗策略

主要方法

在使用Oncomine Comprehensive Assay (OCA) Plus的102名HGSC患者的回顾性分析.
基因组不稳定性通过GIM (> 16) 测量.
通过CGP,FISH和IHC评估的CCNE1放大;与临床数据相关.

主要成果

在40%的病例中发现基因组不稳定性 (GIM> 16),与BRCA1/ 2突变和无复发生存率的改善有关.
在29%的病例中观察到CCNE1放大,独立于GIM,与BRCA1/ 2突变负相关.
通过FISH验证的CCNE1放大 (rho=0. 93);蛋白质过度表达发生在45%的病例中没有放大.

结论

在HR熟练的HGSC中,GIM指标和CCNE1放大是个性化治疗的临床有用生物标志物.
作为HGSC治疗选择的生物标志物,CCNE1放大显示出希望.
需要进一步调查CCNE1放大和蛋白质表达之间的不一致.

关键词:

CCNE1 的放大综合基因组分析 (CGP) 高度血清性卵巢癌 (HGSC) 同类重组缺陷 (HRD) 评分精密瘤学癌症

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