对敏感的卵巢透明细胞癌的遗传特征
Ryosuke Saito1,2, Takafumi Kuroda2, Hiroshi Yoshida3
1Division of Genome Biology, National Cancer Center Research Institute, Chuo-ku, Tokyo, Japan.
Japanese journal of clinical oncology
|May 30, 2023
概括
对敏感的卵巢清细胞癌 (OCCC) 病例很少见,但显示出更好的生存率. 这些敏感的OCCCs往往缺乏同源重组缺陷 (HRD) 和BRCA突变,使它们与抗类型区别开来.
科学领域:
- 妇科瘤学 妇科瘤学
- 医学基因组学 医学基因组学
- 化学疗法耐药性 抗化学疗法耐药性
背景情况:
- 卵巢透明细胞癌 (OCCC) 通常表现出对基化疗的耐药性.
- 一小部分OCCC患者表现出对基治疗的敏感性,需要进一步调查.
- 了解敏感OCCC的特征对于改善患者的治疗结果至关重要.
研究的目的:
- 阐明对敏感卵巢清细胞癌的临床,病理和遗传特征.
- 识别潜在的生物标志物,区分敏感与抗性OCCC.
- 为了比较敏感的OCCC与高度血清性卵巢癌的分子概况.
主要方法:
- 对53名III-IV期OCCC患者进行了回顾性分析,这些患者接受了基于的治疗 (2009-2018).
- 敏感性定义为治疗后≥6个月的复发/进展.
- 分子分析包括免疫组织化学,目标测序 (NCC Oncopanel) 和同源重组缺陷 (myChoice® HRD Plus) 试验.
主要成果:
- 11% (21%) 的OCCC病例对敏感,呈现出明显更好的无进展和整体存活率.
- 在敏感病例中,纯OCCC (n=5) 缺乏BRCA突变和同源重组缺陷 (HRD),但在40%的患者中显示出ATM突变.
- 两例被重新诊断为高度血清性卵巢癌 (HGSOC) 的病例具有BRCA突变和HRD.
结论:
- 敏感的OCCC是一种独特的子组,通常以纯粹的OCCC组织学为特征.
- 这些对敏感的瘤通常缺乏同源重组缺陷 (HRD) 和BRCA突变.
- 这些发现表明,与HGSOC相比,OCCC中敏感性的潜在分子机制不同.
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