Abstract 85P
Background
In the last years, diagnostic and therapeutic algorithms in gynecologic oncology have been dramatically revolutionized. Today, molecular diagnostic is mandatory to reach a complete histological diagnosis and to guide the oncologist through the most appropriate treatment. However, data from genomic analysis are extremely complex and multidisciplinary approach to interpret them is crucial, especially in high volume gynecologic cancer centers.
Methods
We retrospectively collected the records of 639 women with gynecologic tumors molecularly profiled at the National Cancer Institute of Milan (INT) between May 2020 and March 2024. All patients underwent molecular profiling using next generation sequencing test. ESMO Scale for Clinical Actionability of Molecular Targets (ESCAT) was used to select patients for targeted therapies.
Results
74.6% patients had diagnosis of epithelial ovarian cancer (OC); 16.4% had endometrial carcinoma; 5.9% had cervical cancer and 2.9% had rare gynecological tumors (including vulvar carcinoma, non-epithelial OC, uterine leyomiosarcoma and others). For 437 (68.4%) patients we identified a pathogenic variant; 165 (25.8 %) patients had at least one actionable alteration with ESCAT scale I-II (21.1 % and 4.7 %, respectively). After MTB discussion, 22 received a personalized treatment: 13 received drugs as off-label request and 9 in clinical trials. Moreover, among patients with HGSOC, 103 (24.1%) had BRCA1/2 mutation and, from March 2023, we identified 44 (6.9%) patients BRCA 1/2 wild type but with genomic instability score (GIS) > 42, eligible for olaparib+bevacizumab.
Conclusions
Comprehensive Genomic Profiling by NGS and ESCAT scale allow to identify several pathogenic variants, in addition to BRCA, and stratify actionable alterations guiding their therapeutic relevance other than genetic counseling for hereditary syndromes.
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.