Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis. Issue 3 (19th September 2019)

• Record Type: Journal Article
• Authors: Fumagalli, Caterina; Rappa, Alessandra; Casadio, Chiara; Betella, Ilaria; Colombo, Nicoletta; Barberis, Massimo; Guerini-Rocco, Elena
• Is Part Of: Journal of clinical pathology. Volume 73:Issue 3(2020)
• Page Start: 168
• Page End: 171
• Publication Date: 2019-09-19
• Subjects: ovarian tumour -- cytopathology -- molecular genetics; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2019-206127
• Languages: English
• ISSNs: 0021-9746

Abstract

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 '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.