Favier Laure, Truc Gille, Boidot Romain, Bengrine-Lefevre Leïla
Department of Medical Oncology, Georges-François Leclerc Anticancer Center, UNICANCER, F-21079 Dijon, France.
Department of Radiotherapy, Georges-François Leclerc Anticancer Center, UNICANCER, F-21079 Dijon, France.
Mol Clin Oncol. 2020 Jul;13(1):73-75. doi: 10.3892/mco.2020.2035. Epub 2020 Apr 27.
PARP inhibitors are considered as a treatment revolution in ovarian cancer management. Leptomeningeal metastasis is a rare event with poor prognosis. The present report presents an exceptional history of long term survival for a young patient treated with olaparib for carcinomatous meningitis. A 54-year-old woman was diagnosed with ovarian cancer. After Paclitaxel and Carboplatin treatment, followed by a debulking surgery and several lines of chemotherapy due to progression, the patient's disease evolved into carcinomatous meningitis within 6 months after the end of treatment. During care, exome analysis on brain lesions was performed. Exome analysis was performed with a mean coverage of 80X by a paired-end sequencing on an Illumina NextSeq500 device. Following bioinformatics alignment and variant annotation, a pathogenic mutation, c.7617+1G>T, was observed, and this was already detected in her family. Additionally, the allelic frequency observed indicated that the mutation was present at the homozygous status in tumor cells. Due to the presence of a pathogenic mutation and a loss of wild-type allele, a maintenance treatment by Olaparib was initiated after radiotherapy and Cisplatin monotherapy. The patient received olaparib treatment for 14 months with a very good disease control and an excellent tolerance. Despite long control, the patient succumbed to meningeal and peritoneal progression.
聚(ADP-核糖)聚合酶(PARP)抑制剂被认为是卵巢癌治疗领域的一场革命。软脑膜转移是一种罕见事件,预后较差。本报告介绍了一名年轻患者接受奥拉帕利治疗癌性脑膜炎后长期生存的特殊病例。一名54岁女性被诊断为卵巢癌。在接受紫杉醇和卡铂治疗、随后进行减瘤手术以及因病情进展接受多线化疗后,患者在治疗结束后6个月内病情发展为癌性脑膜炎。在治疗期间,对脑部病变进行了外显子组分析。外显子组分析在Illumina NextSeq500设备上通过双端测序进行,平均覆盖度为80X。经过生物信息学比对和变异注释,观察到一个致病突变,即c.7617+1G>T,并且该突变在其家族中已被检测到。此外,观察到的等位基因频率表明该突变在肿瘤细胞中呈纯合状态。由于存在致病突变且野生型等位基因缺失,在放疗和顺铂单药治疗后开始使用奥拉帕利进行维持治疗。患者接受奥拉帕利治疗14个月,疾病控制良好且耐受性极佳。尽管病情得到了长期控制,但患者最终因脑膜和腹膜转移而死亡。