Hodroj Khalil, Stevovic Aleksandra, Attignon Valery, Ferraioli Domenico, Meeus Pierre, Croce Sabrina, Chopin Nicolas, Rossi Lea, Floquet Anne, Rousset-Jablonski Christine, Tredan Olivier, Guyon Frédéric, Treilleux Isabelle, Rannou Corinne, Morfouace Marie, Ray-Coquard Isabelle
Centre Léon Berard (CLB), 69008 Lyon, France.
EORTC, Translational Research, 1200 Brussels, Belgium.
Cancers (Basel). 2021 Jan 9;13(2):220. doi: 10.3390/cancers13020220.
Most patients with malignant ovarian germ cell tumors (MOGTCs) have a very good prognosis and chemotherapy provides curative treatment; however, patients with yolk sac tumors (OYSTs) have a significantly worse prognosis. OYSTs are rare tumors and promising results are expected with the use of specific therapeutic strategies after the failure of platinum-based first-line and salvage regimens. We initiated a project in collaboration with EORTC SPECTA, to explore the molecular characteristics of OYSTs. The pilot project used retrospective samples from ten OYST relapsed and disease-free patients. Each patient had a molecular analysis performed with FoundationOne CDx describing the following variables according to the Foundation Medicine Incorporation (FMI): alteration type (SNV, deletion), actionable gene alteration, therapies approved in EU (for patient's tumor type and other tumor types), tumor mutational burden (TMB), and microsatellite instability (MSI) status. A total of 10 patients with OYST diagnosed between 2007 and 2017 had a molecular analysis. A molecular alteration was identified in four patients (40%). A subset of three patients (33.3% of all patients) harbored targetable oncogenic mutations in , , . Two patients at relapse harbored a targetable mutation. This retrospective study identifies clinically relevant molecular alterations for all relapsed patients with molecular analysis. Dedicated studies are needed to demonstrate the efficacy of specific therapeutic strategies after the failure of platinum-based first-line and salvage regimens and to explore the potential relationship of a molecular alteration and patient outcome.
大多数恶性卵巢生殖细胞肿瘤（MOGTC）患者预后良好，化疗可提供治愈性治疗；然而，卵黄囊瘤（OYST）患者的预后明显较差。OYST是罕见肿瘤，在铂类一线和挽救方案失败后使用特定治疗策略有望取得良好效果。我们与欧洲癌症研究与治疗组织（EORTC）SPECTA合作启动了一个项目，以探索OYST的分子特征。该试点项目使用了10例OYST复发和无病患者的回顾性样本。根据Foundation Medicine Incorporation（FMI），对每位患者进行了FoundationOne CDx分子分析，描述了以下变量：改变类型（单核苷酸变异、缺失）、可操作的基因改变、欧盟批准的治疗方法（针对患者的肿瘤类型和其他肿瘤类型）、肿瘤突变负荷（TMB）和微卫星不稳定性（MSI）状态。共有10例在2007年至2017年期间诊断为OYST的患者进行了分子分析。在4例患者（40%）中发现了分子改变。3例患者亚组（占所有患者的33.3%）在[具体基因名称1]、[具体基因名称2]、[具体基因名称3]中存在可靶向的致癌突变。2例复发患者存在可靶向突变。这项回顾性研究为所有进行分子分析的复发患者确定了临床相关的分子改变。需要开展专门研究来证明铂类一线和挽救方案失败后特定治疗策略的疗效，并探索分子改变与患者预后之间的潜在关系。
