TY - JOUR
T1 - Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis
AU - Fumagalli, Caterina
AU - Rappa, Alessandra
AU - Casadio, Chiara
AU - Betella, Ilaria
AU - Colombo, Nicoletta
AU - Barberis, Massimo
AU - Guerini-Rocco, Elena
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - cytopathology
KW - molecular genetics
KW - ovarian tumour
UR - http://www.scopus.com/inward/record.url?scp=85072600931&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85072600931&partnerID=8YFLogxK
U2 - 10.1136/jclinpath-2019-206127
DO - 10.1136/jclinpath-2019-206127
M3 - Article
C2 - 31537627
AN - SCOPUS:85072600931
JO - Journal of Clinical Pathology - Clinical Molecular Pathology
JF - Journal of Clinical Pathology - Clinical Molecular Pathology
SN - 0021-9746
ER -