Fiche publication
Date publication
juillet 2020
Journal
Molecular and clinical oncology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BOIDOT Romain
,
Pr TRUC Gilles
,
Dr FAVIER Laure
,
Dr BENGRINE-LEFEVRE Leila
Tous les auteurs :
Favier L, Truc G, Boidot R, Bengrine-Lefevre L
Lien Pubmed
Résumé
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.
Mots clés
BRCA2, carcinomatous meningitis, olaparib, ovary cancer
Référence
Mol Clin Oncol. 2020 Jul;13(1):73-75
