Sahnane Nora, Libera Laura, Facchi Sofia, Carnevali Ileana, Ronchi Susanna, Albeni Chiara, Cromi Antonella, Casarin Jvan, Sessa Fausto, Tibiletti Maria Grazia
Unit of Pathology, Azienda Socio Sanitaria Territoriale (ASST) Sette Laghi, Varese, Italy.
Research Centre for the Study of Hereditary and Familial Tumors, University of Insubria, Varese, Italy.
Front Oncol. 2023 Oct 3;13:1268127. doi: 10.3389/fonc.2023.1268127. eCollection 2023.
methylated () epithelial ovarian cancer (EOC) is a recently defined and not well-investigated subset of neoplasms. To date, no studies have focused on the transcriptional profiles of cases, and, as a matter of fact, we still do not know if this subset of EOCs is similar, and to what extent, to mutated () cases.
We compared a group of 17 cases against 10 cases using a subset of carefully selected 17 EOCs as a control group.
First, cases showed a downregulation of the relative transcript, while this association was not observed for EOCs. The group exhibited a general upregulation of homologous recombination (HR)-related genes, as well as . Overall, had a different gene expression profile, characterized by diffuse downregulation, whereas showed a general upregulation (p < 0.0001). Both -defective groups showed a slightly activated immune response mediated by interferon (IFN) gamma pathways.
In conclusion, even if the expression profile of many genes related to DNA damage and repair system is shared between and EOCs supporting that EOCs may benefit from PARPi therapies, our data demonstrate that and EOCs show different expression profiles, suggesting a different mechanism of carcinogenesis that can be reflected in different responses to therapies and disease recovery.
甲基化（）上皮性卵巢癌（EOC）是一种最近定义且研究尚不充分的肿瘤亚型。迄今为止，尚无研究聚焦于甲基化病例的转录谱，事实上，我们仍不清楚这种EOC亚型与突变（）病例在多大程度上相似。
我们将一组17例甲基化病例与10例突变病例进行比较，选取一组精心挑选的17例EOC作为对照组。
首先，甲基化病例显示相关转录本下调，而在突变型EOC中未观察到这种关联。甲基化组显示同源重组（HR）相关基因以及普遍上调。总体而言，甲基化具有不同的基因表达谱，其特征为弥漫性下调，而突变型则普遍上调（p < 0.0001）。两个缺陷组均显示由干扰素（IFN）γ途径介导的免疫反应略有激活。
总之，尽管甲基化和突变型EOC之间共享许多与DNA损伤和修复系统相关基因的表达谱，这表明甲基化EOC可能从PARPi治疗中获益，但我们的数据表明甲基化和突变型EOC显示出不同的表达谱，提示致癌机制不同，这可能反映在对治疗的不同反应和疾病恢复情况中。
