Tubal histopathological abnormalities in<i>BRCA1/2</i>mutation carriers undergoing prophylactic salpingo-oophorectomy: a case–control study

Sina, Federica; Cassani, Chiara; Comerio, Chiara; Ponti, Elena De; Zanellini, F.; Marchette, Martina Delle; Roversi, Gaia; Jaconi, Marta; Arbustini, Eloisa; Urtis, Mario; Dell'Oro, Cristina; Zambetti, Benedetta; Paniga, Cristiana; Acampora, Eleonora; Negri, Serena; Lazzarin, Sara; Cesari, Stefania; Spinillo, Arsenio; Kotsopoulos, Joanne; Fruscio, Robert

doi:10.1136/ijgc-2021-003153

Cited by 3 publications

(3 citation statements)

References 24 publications

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“…Our data show a p53 signature frequency of 10.2% (n = 19/190) in the case study population and of 9.7% (n= 14/145) in the control population. Our data are in line with the literature (18% in BRCA carriers and 15% in controls by Sina et al [55], 10% in low risk population by Nishida et al [56], 20% in BRCA carriers and 25% in controls by Shaw et al [57]).…”

Section: Discussionsupporting

confidence: 93%

“…Our observations support the hypothesis that p53 signature may be a common event in every woman′s life, is independent from the presence of germline mutation in susceptibility genes and therefore may not represent a significant precursor lesion in the vast majority of cases. The hypothesized progression from p53 signature to HGSC is a long one: current evidence supports the assumption that progression from p53 signature to STIC may require up to 20 years, with 6–7 additional years needed for the progression from STIC to HGSC [ 8 , 55 ]. Therefore, our results are aligned with the current literature in suggesting that p53 signature may be a recurrent event in HGSC carcinogenesis, but not sufficient per se to trigger a neoplastic transformation.…”

Section: Discussionmentioning

confidence: 91%

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Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience

et al. 2022

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Risk-reducing surgery (RRS) is recommended in BRCA-mutated carriers because of their increased risk of developing ovarian cancer, while its role is still discussed for women harboring mutations in non-BRCA homologous repair genes. The aim of this study was to retrospectively evaluate the occurrence of pathological findings in a high-risk population undergoing RRS in San Matteo Hospital, Pavia between 2012 and 2022, and correlate their genetic and clinical outcomes, comparing them with a control group. The final cohort of 190 patients included 85 BRCA1, 63 BRCA2, 11 CHEK2, 7 PALB2, 4 ATM, 1 ERCC5, 1 RAD51C, 1 CDH1, 1 MEN1, 1 MLH1 gene mutation carriers and 15 patients with no known mutation but with strong familial risk. Occult invasive serous carcinoma (HGSC) and serous tubal intraepithelial carcinoma (STIC) were diagnosed in 12 (6.3%) women, all of them BRCA carriers. No neoplastic lesion was diagnosed in the non-BRCA group, in women with familial risk, or in the control group. Oral contraceptive use and age ≤45 at surgery were both found to be favorable factors. While p53 signature and serous tubal intraepithelial lesion (STIL) were also seen in the control group and in non-BRCA carriers, STIC and HGSC were only found in BRCA1/2 mutation carriers.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 91%

Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience

et al. 2022

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“…An incidental carcinoma involving the ovary, fallopian tube or peritoneum is detected during surgery or in the surgical specimen in 2-14% of patients undergoing risk-reducing procedures among multiple large studies. The frequency, however, in several studies is 3-5%, [33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52] although it could be argued that there may be publication bias in the rates of positivity in the literature with the possibility of lower rates in current practice due to a shift to surgery in younger patients.…”

Section: Incidental Detection Of Stic In the Setting Of Prophylactic ...mentioning

confidence: 99%

Serous tubal intra‐epithelial carcinoma: what do we really know at this point?

Vang

Shih

2022

Histopathology

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Serous tubal intra‐epithelial carcinoma (STIC) is the earliest morphologically recognisable step in the development of invasive high‐grade serous carcinoma of the fallopian tube. Lesions occurring prior to STIC within the carcinogenic sequence for the pathogenesis of invasive high‐grade serous carcinoma include the p53 signature and secretory cell outgrowth (SCOUT). Variable histological criteria have been used for diagnosing STIC, but a combination of morphology and immunohistochemistry for p53/Ki‐67 improves interobserver agreement. Half of all carcinomas identified in risk‐reducing salpingo‐oophorectomy specimens are in the form of STIC; however, STIC also may be incidentally found on occasion in specimens from women at low or average risk of ovarian/tubal/peritoneal carcinoma. TP53 mutation is the earliest known DNA sequence alteration in STIC and almost all invasive high‐grade serous carcinomas of the ovary and peritoneum. Data on the clinical behaviour of STIC are limited. While the short‐term follow‐up in the prior literature suggests a low risk of malignant progression, a more recent meta‐analysis indicates a 10‐year risk of 28%. STIC probably should be best regarded as a lesion with uncertain malignant potential at present, and future molecular analysis will help to classify those with higher risk of dissemination. This review provides an update on the current knowledge of STIC and related issues.

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Serous Tubal Intraepithelial Carcinoma (STIC): A Review of the Literature on the Incidence at the Time of Prophylactic Surgery

Luvero,

Angioli,

Notaro

et al. 2024

Diagnostics

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Background: Serous tubal intraepithelial carcinoma (STIC) is an early-stage cancerous lesion found in the fallopian tubes, often at the fimbrial end. It is strongly associated with high-grade serous carcinoma (HGSC), a highly aggressive type of ovarian cancer. STIC is considered a precursor to many HGSC cases, originating in the fallopian tubes. Its development is frequently linked to mutations in the TP53 gene, leading to the formation of a p53 signature, an early abnormality that may progress to HGSC. This signature is more common in BRCA mutation carriers, explaining the higher incidence of STIC in this group. The aim of this review is to evaluate the literature on the incidence of serous tubal intraepithelial carcinoma in patients (both BRCA-positive and BRCA-negative) undergoing preventive salpingo-oophorectomy, analysing the available data and identifying associations between specific characteristics and the onset of STIC. Methods: A comprehensive review of the literature from 2016 to 2023 was conducted using PubMed, focusing on studies analysing the incidence of STIC in BRCA-positive patients undergoing preventive salpingo-oophorectomy. Data on patient characteristics, interventions, outcomes, and incidence of STIC were extracted and analysed. Results: Nine international studies were included in the review, reporting varying incidences of STIC among patients undergoing salpingo-oophorectomy. The overall incidence of STIC in all the women included in the studies was 7.31%, while that in the BRCA-mutated women was approximately 6.08%. Notably, the presence of the TP53 signature was significantly associated with the occurrence of STIC. Conclusions: The etiopathogenesis of STIC involves complex interactions between genetic, environmental, and molecular factors. Further research is needed to fully understand its mechanisms and identify additional risk factors beyond BRCA mutations. Establishing a national database of STIC cases could facilitate future research and improve patient outcomes.

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Tubal histopathological abnormalities inBRCA1/2mutation carriers undergoing prophylactic salpingo-oophorectomy: a case–control study

Cited by 3 publications

References 24 publications

Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience

Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience

Serous tubal intra‐epithelial carcinoma: what do we really know at this point?

Serous Tubal Intraepithelial Carcinoma (STIC): A Review of the Literature on the Incidence at the Time of Prophylactic Surgery

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