Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up

Blok, F.; Dasgupta, Shatavisha; Dinjens, Winand N.M.; Roes, Eva Maria; Beekhuizen, Heleen J. van; Ewing‐Graham, Patricia C.

doi:10.1016/j.ygyno.2019.03.003

Cited by 23 publications

(34 citation statements)

References 22 publications

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“…According to the available literature, the prevalence of occult cancer found after RRSO varies from 2% to 17%. [13][14][15][16][17][18][19][20][21][22]28 In our study, the prevalence of occult cancer in BRCA1/2 positive women was 5.5%, which is similar to what Conner et al have found. 29 We detected fewer occult cancers than Powell et al who reported a rate of 7.9% and more than Reitsma et al (2.2%) and Finch et al (4.2%).…”

Section: Discussionsupporting

confidence: 91%

“…Occult cancers have been reported to occur between 2% and 17% and STICs between 3% and 12%, respectively. [13][14][15][16][17][18][19][20][21][22] The occult cancer detection is probably influenced by the age at RRSO, gynaecological screening prior to RRSO, extent of the surgical removal of specimens and the accuracy of tubal pathohistological assessment. It is known that the protocol for sectioning and extensively examining the fimbriated end of the Fallopian tube (SEE-FIM) enables a more exact histopathological examination of the distal tube with its fimbrial part.…”

Section: Introductionmentioning

confidence: 99%

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

Gornjec

Merlo

Novaković

et al. 2020

Radiology and Oncology

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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.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

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

Gornjec

Merlo

Novaković

et al. 2020

Radiology and Oncology

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“…Most recently, a retrospective study of 527 patients over a span of 16 years evaluated BRCA1/2 carriers undergoing risk-reducing salpingo-oophorectomy. HGSOCs were identified in 2.3% of patients and 59%, were classified as of fallopian tube origin (per aforementioned criteria by Singh) [23,29]. The pith of the study, however, was the finding of isolated STIC in 0.8% of women (4/527).…”

Section: Prevalencementioning

confidence: 99%

“…Of these isolated STICs, two patients with BRCA1 germline mutations went on to develop peritoneal serous carcinoma after a prolonged interval of >7 years. Clonality of the two lesions was established by next generation targeted sequencing demonstrating identical TP53 mutations [29]. Clearly, this long intervening period causes improper clinical follow-up of these patients.…”

Section: Prevalencementioning

confidence: 99%

Serous Tubal Intraepithelial Carcinoma: A Concise Review for the Practicing Pathologist and Clinician

et al. 2020

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Ovarian cancer is the deadliest gynecologic malignancy, accounting for more than 14,000 deaths each year. With no established way to prevent or screen for it, the vast majority of cases are diagnosed as International Federation of Gynecology and Obstetrics (FIGO) stage III or higher. Individuals with germline BRCA mutations are at particularly high risk for epithelial ovarian cancer and have been the subject of many risk-reducing strategies. In the past ten years, studies looking at risk-reducing salpingo-oophorectomy (RRSO) in this population have uncovered an interesting association: up to 8% of women with BRCA1 or BRCA2 mutations who underwent RRSO had an associated serous tubal intraepithelial carcinoma (STIC). The importance of this finding is highlighted by the fact that up to 60% of ovarian cancer patients will also have an associated STIC. These studies have led to a paradigm shift that a subset of epithelial ovarian cancer originates not in the ovarian epithelium, but rather in the distal fallopian tube. In response to this, many providers have changed their practice by expanding the role of routine salpingectomy, hysterectomy, and sterilization procedures. The American College of Obstetricians and Gynecologists (ACOG) has acknowledged opportunistic salpingectomy as a safe strategy to reduce the risk of epithelial ovarian cancer in Committee Opinion #774. It is thus important for pathologists and clinicians to understand the definition of STIC; how it is diagnosed; and, most importantly, its clinical significance.

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“…BRCA mutation, especially BRCA2 patients, had higher response rates in neoadjuvant therapies and could benefit from this regime (15,17). Patients with BRCA mutation have shown greater rates of overall survival, longer disease-free interval (DFI) after first-line chemotherapy, better responsiveness in common chemotherapeutic regimens and higher treatment free interval (TFI) between each line of therapy (18,19). For women with BRCA1/2 mutations, progression-free survival is estimated at 15.7 and 21.6 months respectively, and overall survival for both groups were approximately 55.3 and 75.2 months, respectively (15,20).…”

Section: Histologic and Genomic Factorsmentioning

confidence: 99%

Upfront debulking surgery for high-grade serous ovarian carcinoma: current evidence

Tsonis¹,

Gkrozou²,

Vlachos³

et al. 2020

Ann Transl Med

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High-grade serous ovarian carcinoma (HGSOC) is a leading cause of mortality among women worldwide. Currently, there is no clear consensus over the regime these patients should receive. The main two options are upfront debulking surgery with adjuvant chemotherapy or neoadjuvant chemotherapy followed by interval debulking surgery (IDS). The former approach is proposed to be accompanied by lower chemoresistance rates but could lead to severe surgical comorbidities and lower quality of life (QoL). Optimizing patient's selection for upfront debulking surgery might offer higher progression-free and overall survival rates. Further studies need to be conducted in order to elucidate the predictive factors, which are favorable for patients undergoing upfront debulking surgery in cases of high-grade serous ovarian cancer.

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Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up

Cited by 23 publications

References 22 publications

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

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

Serous Tubal Intraepithelial Carcinoma: A Concise Review for the Practicing Pathologist and Clinician

Upfront debulking surgery for high-grade serous ovarian carcinoma: current evidence

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Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up

Cited by 23 publications

References 22 publications

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

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

Serous Tubal Intraepithelial Carcinoma: A Concise Review for the Practicing Pathologist and Clinician

Upfront debulking surgery for high-grade serous ovarian carcinoma: current evidence

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Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up