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Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma

BACKGROUND: High-grade serous ovarian cancer is a detrimental disease. Treatment options in patients with a recurrent disease are dependent on BRCA1/2 mutation status since only patients with known BRCA mutation are eligible for treatment with poly(ADP-ribose) polymerase inhibitors (PARPi). The aim...

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Autores principales: Gornjec, Andreja, Novakovic, Srdjan, Stegel, Vida, Hocevar, Marko, Pohar Marinsek, Ziva, Gazic, Barbara, Krajc, Mateja, Skof, Erik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444857/
https://www.ncbi.nlm.nih.gov/pubmed/30940100
http://dx.doi.org/10.1186/s12885-019-5535-2
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author Gornjec, Andreja
Novakovic, Srdjan
Stegel, Vida
Hocevar, Marko
Pohar Marinsek, Ziva
Gazic, Barbara
Krajc, Mateja
Skof, Erik
author_facet Gornjec, Andreja
Novakovic, Srdjan
Stegel, Vida
Hocevar, Marko
Pohar Marinsek, Ziva
Gazic, Barbara
Krajc, Mateja
Skof, Erik
author_sort Gornjec, Andreja
collection PubMed
description BACKGROUND: High-grade serous ovarian cancer is a detrimental disease. Treatment options in patients with a recurrent disease are dependent on BRCA1/2 mutation status since only patients with known BRCA mutation are eligible for treatment with poly(ADP-ribose) polymerase inhibitors (PARPi). The aim of this study was to compare concordance of BRCA mutation analyses from cytological samples (CS) with BRCA mutation analyses from histological formalin fixed paraffin embedded (FFPE) samples. METHODS: Mutation analysis of BRCA1 and BRCA2 genes was performed in 44 women diagnosed with primary or recurrent high-grade ovarian cancer from three different samples: blood, cytological sample (ascites, pleural effusion and enlarged lymph nodes) and tumor tissue. Results from all three samples were compared. RESULTS: Among 44 patients, there were 15 germline mutations and two somatic mutations. A 100% concordance was found between cytological and histologic samples. CONCLUSION: There is a 100% concordance in BRCA mutation testing between cytological and histologic samples. BRCA mutation testing from CS could replace testing from FFPE tissue in clinical decision making in ovarian cancer patients. TRIAL REGISTRATION: The study was retrospectively registered at ISRCTN registry on 24/11/2015 - ISRCTN42408038.
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spelling pubmed-64448572019-04-12 Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma Gornjec, Andreja Novakovic, Srdjan Stegel, Vida Hocevar, Marko Pohar Marinsek, Ziva Gazic, Barbara Krajc, Mateja Skof, Erik BMC Cancer Research Article BACKGROUND: High-grade serous ovarian cancer is a detrimental disease. Treatment options in patients with a recurrent disease are dependent on BRCA1/2 mutation status since only patients with known BRCA mutation are eligible for treatment with poly(ADP-ribose) polymerase inhibitors (PARPi). The aim of this study was to compare concordance of BRCA mutation analyses from cytological samples (CS) with BRCA mutation analyses from histological formalin fixed paraffin embedded (FFPE) samples. METHODS: Mutation analysis of BRCA1 and BRCA2 genes was performed in 44 women diagnosed with primary or recurrent high-grade ovarian cancer from three different samples: blood, cytological sample (ascites, pleural effusion and enlarged lymph nodes) and tumor tissue. Results from all three samples were compared. RESULTS: Among 44 patients, there were 15 germline mutations and two somatic mutations. A 100% concordance was found between cytological and histologic samples. CONCLUSION: There is a 100% concordance in BRCA mutation testing between cytological and histologic samples. BRCA mutation testing from CS could replace testing from FFPE tissue in clinical decision making in ovarian cancer patients. TRIAL REGISTRATION: The study was retrospectively registered at ISRCTN registry on 24/11/2015 - ISRCTN42408038. BioMed Central 2019-04-02 /pmc/articles/PMC6444857/ /pubmed/30940100 http://dx.doi.org/10.1186/s12885-019-5535-2 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Gornjec, Andreja
Novakovic, Srdjan
Stegel, Vida
Hocevar, Marko
Pohar Marinsek, Ziva
Gazic, Barbara
Krajc, Mateja
Skof, Erik
Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
title Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
title_full Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
title_fullStr Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
title_full_unstemmed Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
title_short Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
title_sort cytology material is equivalent to tumor tissue in determining mutations of brca 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444857/
https://www.ncbi.nlm.nih.gov/pubmed/30940100
http://dx.doi.org/10.1186/s12885-019-5535-2
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