<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_raon-2020-0020_s_007_w2aab3b7b5b1b6b1aab1c16b1Aa"><h3>Background</h3><p>We assessed the prevalence, localization, type and outcome of occult cancer at risk-reducing salpingo-oophorectomy or salpingectomy (RRSO) in asymptomatic carriers of pathogenic or likely pathogenic <italic>BRCA1/2</italic> variants and high-risk <italic>BRCA1/2</italic> negative women.</p></sec><sec id="j_raon-2020-0020_s_008_w2aab3b7b5b1b6b1aab1c16b2Aa"><h3>Patients and methods</h3><p>A retrospective analysis of all consecutive gynaecologic preventive surgeries from January 2009 to December 2015 was performed. Participants underwent genetic counselling and <italic>BRCA1/2</italic> testing before the procedure. Data on clinical parameters, adjuvant treatment and follow-up were collected and analysed.</p></sec><sec id="j_raon-2020-0020_s_009_w2aab3b7b5b1b6b1aab1c16b3Aa"><h3>Results</h3><p>One hundred and fifty-five RRSO were performed in 110 <italic>BRCA1</italic>, 35 <italic>BRCA2</italic> carriers of pathogenic or likely pathogenic variants and 10 high-risk <italic>BRCA1/2</italic> negative women, at the mean age of 48.3 years. Nine occult cancers (9/155, 5.8%) were identified; eight in <italic>BRCA1</italic> positive women and one in high-risk <italic>BRCA1/2</italic> negative woman. We identified four non-invasive serous intraepithelial tubal carcinomas (3 in <italic>BRCA1</italic> carriers and 1 in a high-risk <italic>BRCA1/2</italic> negative woman) and five invasive tubo-ovarian high grade serous cancers (all detected in <italic>BRCA1</italic> carriers). Only one out of nine patients (11.1%) with occult cancer had a slightly elevated CA-125 value preoperatively.</p></sec><sec id="j_raon-2020-0020_s_010_w2aab3b7b5b1b6b1aab1c16b4Aa"><h3>Conclusions</h3><p>A 5.8% prevalence of occult invasive and noninvasive tubo-ovarian serous cancer after RRSO was found in high risk asymptomatic and screen negative women. We conclude that RRSO should be performed in <italic>BRCA1/2</italic> carriers and in high-risk <italic>BRCA1/2</italic> negative women. Age of preventive gynaecologic surgery should be carefully planned, taking into account the completion of childbearing age and type of mutation. The results favour the tubal hypothesis of tubal origin of high grade serous ovarian and peritoneal cancer. Cytology result of peritoneal cavity washing was important for the decision making process in determining treatment. Cytology examination should be performed in all cases of RRSO. CA-125 assay did not prove to be an effective screening tool for early cancer detection in our patients.</p></sec></abstract>

BackgroundWe assessed the prevalence, localization, type and outcome of occult cancer at risk-reducing salpingo-oophorectomy or salpingectomy (RRSO) in asymptomatic carriers of pathogenic or likely pathogenic BRCA1/2 variants and high-risk BRCA1/2 negative women.Patients and methodsA retrospective analysis of all consecutive gynaecologic preventive surgeries from January 2009 to December 2015 was performed. Participants underwent genetic counselling and BRCA1/2 testing before the procedure. Data on clinical parameters, adjuvant treatment and follow-up were collected and analysed.ResultsOne hundred and fifty-five RRSO were performed in 110 BRCA1, 35 BRCA2 carriers of pathogenic or likely pathogenic variants and 10 high-risk BRCA1/2 negative women, at the mean age of 48.3 years. Nine occult cancers (9/155, 5.8%) were identified; eight in BRCA1 positive women and one in high-risk BRCA1/2 negative woman. We identified four non-invasive serous intraepithelial tubal carcinomas (3 in BRCA1 carriers and 1 in a high-risk BRCA1/2 negative woman) and five invasive tubo-ovarian high grade serous cancers (all detected in BRCA1 carriers). Only one out of nine patients (11.1%) with occult cancer had a slightly elevated CA-125 value preoperatively.ConclusionsA 5.8% prevalence of occult invasive and noninvasive tubo-ovarian serous cancer after RRSO was found in high risk asymptomatic and screen negative women. We conclude that RRSO should be performed in BRCA1/2 carriers and in high-risk BRCA1/2 negative women. Age of preventive gynaecologic surgery should be carefully planned, taking into account the completion of childbearing age and type of mutation. The results favour the tubal hypothesis of tubal origin of high grade serous ovarian and peritoneal cancer. Cytology result of peritoneal cavity washing was important for the decision making process in determining treatment. Cytology examination should be performed in all cases of RRSO. CA-125 assay did not prove to be an effective screening tool for early cancer detection in our patients.

The prevalence of occult ovarian cancer in the series of 155 consequently operated high risk asymptomatic patients – Slovenian population based study

Radiology and Oncology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

BackgroundWe assessed the prevalence, localization, type and outcome of occult cancer at risk-reducing salpingo-oophorectomy or salpingectomy (RRSO) in...

Patient Number	Age at RRSO (years)	Occult finding	BRCA gene involved	Type of pathogenic variant	FIGO STAGE	Cytology	Treatment	Vital status
1	53	STIC	BRCA1	deletion exons 4–9	STIC	NEG	Surgery	NED
2	69	STIC	BRCA1	c.3018_3021delTTCA	STIC	NEG	Surgery	NED
3	64	STIC	negative/high risk		STIC	NEG	Surgery	NED
4	45	STIC	BRCA1	deletion exons 4–9	(Staging NEG) procedure I C	PC	Surgery+ACT	NED
5	56	HGSC	BRCA1	c.181T>G	III B	PC	Surgery+ACT	DOOD
6	39	HGSC	BRCA1	c.5266dup.C	III B	PC	Surgery+ACT	OT
7	57	HGSC	BRCA1	c.5266dup.C	I C	PC	Surgery+ACT	NED
8	39	HGSC	BRCA1	c.1687C>T	III A	PC	Surgery+ACT	NED
9	61	HGSC	BRCA1	deletion exons 4–9	III A	PC	Surgery+ACT	OT

The prevalence of occult ovarian cancer in the series of 155 consequently operated high risk asymptomatic patients – Slovenian population based study

Article Category: Research Article

Pubblicato online: 28 mag 2020

Pagine: 180 - 186

Ricevuto: 11 dic 2019

Accettato: 22 mar 2020

DOI: https://doi.org/10.2478/raon-2020-0020

© 2020 Andreja Gornjec, Sebastijan Merlo, Srdjan Novakovic, Vida Stegel, Barbara Gazic, Andraz Perhavec, Ana Blatnik, Mateja Krajc, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Clinical characteristics of occult findings after RRSO