Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma
Abstract 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)....
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doaj-0ee54d63b81c4ff98ce479c0aeaf82482020-11-25T02:23:05ZengBMCBMC Cancer1471-24072019-04-0119111010.1186/s12885-019-5535-2Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinomaAndreja Gornjec0Srdjan Novakovic1Vida Stegel2Marko Hocevar3Ziva Pohar Marinsek4Barbara Gazic5Mateja Krajc6Erik Skof7Department of Gynecologic Oncology, Institute of Oncology LjubljanaDepartment of Molecular diagnostics, Institute of Oncology LjubljanaDepartment of Molecular diagnostics, Institute of Oncology LjubljanaDepartment of Surgical Oncology, Institute of Oncology LjubljanaDepartment of Cythopathology, Institute of Oncology LjubljanaDepartment of Pathology, Institute of Oncology LjubljanaDepartment of Genetic counselling, Institute of Oncology LjubljanaDepartment of Medical oncology, Institute of Oncology LjubljanaAbstract 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.http://link.springer.com/article/10.1186/s12885-019-5535-2High-grade serous cancerBRCA1/2 mutationBRCA1/2 mutation testingCytological samplesFormalin fixed paraffin embedded samples |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Andreja Gornjec Srdjan Novakovic Vida Stegel Marko Hocevar Ziva Pohar Marinsek Barbara Gazic Mateja Krajc Erik Skof |
spellingShingle |
Andreja Gornjec Srdjan Novakovic Vida Stegel Marko Hocevar Ziva Pohar Marinsek Barbara Gazic Mateja Krajc Erik Skof Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma BMC Cancer High-grade serous cancer BRCA1/2 mutation BRCA1/2 mutation testing Cytological samples Formalin fixed paraffin embedded samples |
author_facet |
Andreja Gornjec Srdjan Novakovic Vida Stegel Marko Hocevar Ziva Pohar Marinsek Barbara Gazic Mateja Krajc Erik Skof |
author_sort |
Andreja Gornjec |
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_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_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_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 |
publisher |
BMC |
series |
BMC Cancer |
issn |
1471-2407 |
publishDate |
2019-04-01 |
description |
Abstract 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. |
topic |
High-grade serous cancer BRCA1/2 mutation BRCA1/2 mutation testing Cytological samples Formalin fixed paraffin embedded samples |
url |
http://link.springer.com/article/10.1186/s12885-019-5535-2 |
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