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  • #759 Comprehensive cancer genomic profiling in matched primary tumor and brain metastasis samples of ovarian cancer patients: a single-institution case series

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06. Ovarian cancer
#759 Comprehensive cancer genomic profiling in matched primary tumor and brain metastasis samples of ovarian cancer patients: a single-institution case series
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  1. Carolina Maria Sassu1,
  2. Camilla Nero1,2,
  3. Maria De Bonis3,
  4. Claudia Marchetti1,2,
  5. Angelo Minucci3,
  6. Giorgia Russo2,
  7. Pier Paolo Mattogno4,
  8. Alessia Piermattei5,
  9. Luciano Giacò6,
  10. Alessandro Olivi4,
  11. Diana Giannarelli7,
  12. Anna Fagotti1,2 and
  13. Giovanni Scambia1,2
  1. 1Dipartimento Scienze della Salute della Donna, del Bambino e di Sanita` Pubblica, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy
  2. 2Dipartimento Scienze della Vita e Sanita` Pubblica, Universita` Cattolica del Sacro Cuore, Rome, Italy
  3. 3Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
  4. 4Department of Neurosurgery, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
  5. 5UOC Anatomia Patologica Generale, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
  6. 6Bioinformatics Facility Core Research, Gemelli Science and Technology Park (GSTeP) Fondazione Policlinico Universitario Agostina Gemelli, IRCCS, Rome, Italy
  7. 7Facility of Epidemiology and Biostatistics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

Abstract

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.

View this table:
Abstract #759 Table 1

clinic and genomic characteristics of 10 matched primary tumor and BM samples.

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.

https://doi.org/10.1136/ijgc-2023-ESGO.37

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