#759 Comprehensive cancer genomic profiling in matched primary tumor and brain metastasis samples of ovarian cancer patients: a single-institution case seriesстатья
Аннотация:
Introduction/Background
Brain metastases (BMs) are rare sites of ovarian cancer (OC) recurrence, associated with poor prognosis. While the genomic landscape of primary OC has been well described, genomic alterations characterizing BM are unknown.Methodology
Data from OC patients treated undergoing surgical removal of BMs between 2011–2022, were retrospectively collected. A comprehensive genomic profiling (CGP) assay was performed using Illumina TruSight Oncology 500 high throughput which analyzes DNA/RNA for single nucleotide variants (SNVs), insertions/deletions, copy number variations (CNVs), tumor mutational burden (TMB), fusions and splicing variants (up to 523 genes). Molecular alterations of the primary tumors were compared with the BM ones.Results
CGP sequencing data are available for 10 primary tumors and matched BM samples (table 1). In primary tumors, genomic alterations were detected in 20 genes, mostly with SNVs. The most frequent alterations involved TP53 (70%), BRCA1 (30%) and MYC, PIK3CA, PTEN and RET (20%). Other gene mutations were less frequent (10%). In BM specimens, 24 genes were altered, especially for CNVs (amplification). TP53 mutation was the most frequent (70%), with the same rate compared to matched primary samples, while MYC (40%), CCNE1 (20%), and PIK3CA (30%) showed a higher frequency rate. RET mutations were utterly absent in BMs. In BMs specimens, 2 fusion events (KIF5B-SBF2 and ZNF83-BRCA1) were identified. All in all, no differences were shown between genomic alterations and the histotype, the stage or the previous number of chemotherapy lines.Conclusion
These preliminary results highlight changes in the molecular landscape of BM tissue compared to the matched primary one; nevertheless, further evaluation is needed. A phylogenetic analysis is still ongoing at our center. This more comprehensive evaluation may pave the way toward a more precise understanding of the genetics underneath the development of BM, potentially revealing novel molecular targets and leading to prospective future studies and more personalized treatment.Disclosures
None.Год издания: 2023
Авторы: Carolina Maria Sassu, Camilla Nero, Maria De Bonis, Cláudia Marchetti, Angelo Minucci, Giorgia Russo, Pier Paolo Mattogno, Alessia Piermattei, Luciano Giacò, Alessandro Olivi, Diana Giannarelli, Anna Fagotti, Giovanni Scambia
Ключевые слова: Brain Metastases and Treatment, Chromatin Remodeling and Cancer, Lung Cancer Research Studies
Открытый доступ: hybrid
Страницы: A25–A26