Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis: Journal of Clinical Pathology

Research output: Contribution to journalArticlepeer-review

Abstract

Background With the approval of the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib for newly diagnosed, breast cancer gene (BRCA)1/2 mutated, ovarian cancer women, the assessment of BRCA1/2 tumour status will be shortly required at the time of diagnosis. Aim To investigate the feasibility of next-generation sequencing (NGS)-based BRCA tumour test on cytological specimens from ovarian cancer ascites. Methods We evaluated the BRCA1/2 status on neoplastic ascites and corresponding tumour tissue of 11 patients with ovarian cancer, using the NGS â € Oncomine BRCA Research Assay'. Results The NGS-based BRCA test on cytological samples had a success rate of 100%, with 11 of 11 concordant BRCA1/2 results between ascites and tumour tissues analyses, including two wild type samples and nine cases harbouring somatic or germline variants. Conclusion BRCA test may be performed on ovarian cancer ascites, reproducing BRCA1/2 tumour status and representing a useful tool for clinical decision-making. © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Original languageEnglish
Pages (from-to)168-171
Number of pages4
JournalJ. Clin. Pathol.
Volume73
Issue number3
DOIs
Publication statusPublished - 2020

Keywords

  • cytopathology
  • molecular genetics
  • ovarian tumour
  • BRCA1 protein
  • BRCA2 protein
  • DNA
  • nicotinamide adenine dinucleotide adenosine diphosphate ribosyltransferase inhibitor
  • olaparib
  • BRCA1 protein, human
  • BRCA2 protein, human
  • phthalazine derivative
  • piperazine derivative
  • tumor marker
  • adult
  • Article
  • ascites
  • ascites fluid
  • ascites fluid cytology
  • assay
  • breast cancer
  • cancer cytodiagnosis
  • cancer grading
  • cancer staging
  • cancer test
  • cancer tissue
  • clinical article
  • family history
  • female
  • gene mutation
  • high throughput sequencing
  • histology
  • human
  • human cell
  • human tissue
  • ovary cancer
  • priority journal
  • tumor cell
  • tumor gene
  • clinical decision making
  • comparative study
  • dna mutational analysis
  • feasibility study
  • genetic predisposition
  • genetics
  • mutation
  • ovary tumor
  • pathology
  • patient selection
  • phenotype
  • predictive value
  • procedures
  • Ascites
  • Biomarkers, Tumor
  • BRCA1 Protein
  • BRCA2 Protein
  • Clinical Decision-Making
  • DNA Mutational Analysis
  • Feasibility Studies
  • Female
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation
  • Ovarian Neoplasms
  • Patient Selection
  • Phenotype
  • Phthalazines
  • Piperazines
  • Poly(ADP-ribose) Polymerase Inhibitors
  • Predictive Value of Tests

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