Risk-reducing salpingo-oophorectomy among Chinese women at increased risk of breast and ovarian cancer

被引:1
作者
Feng, Zheng [1 ,2 ]
Zuo, Ke [2 ,3 ]
Ju, Xingzhu [1 ,2 ]
Chen, Xiaojun [1 ,2 ]
Yang, Wentao [2 ,3 ]
Wen, Hao [1 ,2 ]
Yu, Lin [2 ,3 ]
Wu, Xiaohua [1 ,2 ]
机构
[1] Fudan Univ, Dept Gynecol Oncol, Shanghai Canc Ctr, 270 Dong An Rd, Shanghai 200032, Peoples R China
[2] Fudan Univ, Shanghai Med Coll, Dept Oncol, Shanghai 200032, Peoples R China
[3] Fudan Univ, Dept Pathol, Shanghai Canc Ctr, Shanghai 200032, Peoples R China
关键词
Ovarian cancer; BRCA1; BRCA2; Risk-reducing salpingo-oophorectomy; Sectioning and extensively examining the Fimbriae; FALLOPIAN-TUBE; PATHOLOGICAL FINDINGS; CLINICAL-OUTCOMES; CARCINOMA; GERMLINE; PREVALENCE; MUTATIONS; DIAGNOSIS; BRCA2;
D O I
10.1186/s13048-023-01222-1
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
BackgroundRisk-reducing salpingo-oophorectomy (RRSO) is recommended for women at increased risk of breast and ovarian cancer. We launched a prospective study of women receiving RRSO, including those with mutations in genes beyond BRCA1/2.Patients and methods80 women were enrolled for RRSO with sectioning and extensively examining the fimbriae (SEE-FIM) protocol between October 2016 and June 2022. The majority of participants had inherited susceptibility gene mutations or a family history suggesting ovarian cancer risk, while patients with isolated metastatic high-grade serous cancer of unknown origin were also included.ResultsOverall, two patients had isolated metastatic high-grade serous cancer with unknown origin, and four patients had family histories but refused to take genetic tests. The rest 74 patients harbored deleterious susceptible gene, including 43 (58.1%) with BRCA1 mutation, and 26 (35.1%) with BRCA2 mutation, respectively. Other mutated genes included ATM (1), BRIP1(1), PALB2(1), MLH1(1) and TP53 (1) in each patient. Among the 74 mutation carriers, three (4.1%) cancers were recognized, one (1.4%) was found to have serous tubal intraepithelial carcinoma (STIC), and five patients (6.8%) was diagnosed with serous tubal intraepithelial lesions (STILs). P53 signature was recognized in 24 patients (32.4%). For other genes, MLH1 mutation carrier had endometrial atypical hyperplasia and p53 signature in fallopian tubes. The germline TP53 mutation carrier had STIC in the surgical specimens. Evidence for precursor escape was also recognized in our cohort.ConclusionOur study demonstrated clinic-pathological findings of patients at increased risk of breast and ovarian cancer, and expand the clinical application of SEE-FIM protocol.
引用
收藏
页数:8
相关论文
共 27 条
[1]  
Akahane T, 2022, J GYNECOL ONCOL
[2]  
[Anonymous], 2019, Obstet Gynecol, V133, P842, DOI 10.1097/AOG.0000000000003165
[3]   Cancer of the ovary, fallopian tube, and peritoneum [J].
Berek, Jonathan S. ;
Kehoe, Sean T. ;
Kumar, Lalit ;
Friedlander, Michael .
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, 2018, 143 :59-78
[4]   Pathological findings following risk-reducing salpingo-oophorectomy in BRCA mutation carriers: A systematic review and meta-analysis [J].
Cheng, Aoshuang ;
Li, Lei ;
Wu, Ming ;
Lang, Jinghe .
EJSO, 2020, 46 (01) :139-147
[5]   Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021 [J].
Daly, Mary B. ;
Pal, Tuya ;
Berry, Michael P. ;
Buys, Saundra S. ;
Dickson, Patricia ;
Domchek, Susan M. ;
Elkhanany, Ahmed ;
Friedman, Susan ;
Goggins, Michael ;
Hutton, Mollie L. ;
Karlan, Beth Y. ;
Khan, Seema ;
Klein, Catherine ;
Kohlmann, Wendy ;
Kurian, Allison W. ;
Laronga, Christine ;
Litton, Jennifer K. ;
Mak, Julie S. ;
Menendez, Carolyn S. ;
Merajver, Sofia D. ;
Norquist, Barbara S. ;
Offit, Kenneth ;
Pederson, Holly J. ;
Reiser, Gwen ;
Senter-Jamieson, Leigha ;
Shannon, Kristen Mahoney ;
Shatsky, Rebecca ;
Visvanathan, Kala ;
Weitzel, Jeffrey N. ;
Wick, Myra J. ;
Wisinski, Kari B. ;
Yurgelun, Matthew B. ;
Darlow, Susan D. ;
Dwyer, Mary A. .
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK, 2021, 19 (01) :77-102
[6]   A candidate precursor to pelvic serous cancer (p53 signature) and its prevalence in ovaries and fallopian tubes from women with BRCA mutations [J].
Folkins, Ann K. ;
Jarboe, Elke A. ;
Saleemuddin, Aasia ;
Lee, Yonghee ;
Callahan, Michael J. ;
Drapkin, Ronny ;
Garber, Judy E. ;
Muto, Michael G. ;
Tworoger, Shelley ;
Crum, Christopher P. .
GYNECOLOGIC ONCOLOGY, 2008, 109 (02) :168-173
[7]   Clinical outcomes in patients with isolated serous tubal intraepithelial carcinoma (STIC): A comprehensive review [J].
Guadalupe Patrono, Maria ;
Iniesta, Maria D. ;
Malpica, Anais ;
Lu, Karen H. ;
Orozco Fernandez, Rodrigo ;
Salvo, Gloria ;
Ramirez, Pedro T. .
GYNECOLOGIC ONCOLOGY, 2015, 139 (03) :568-572
[8]   Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond [J].
Hall, M. J. ;
Obeid, E. I. ;
Schwartz, S. C. ;
Mantia-Smaldone, G. ;
Forman, A. D. ;
Daly, M. B. .
GYNECOLOGIC ONCOLOGY, 2016, 140 (03) :565-574
[9]   Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers [J].
Hall, Michael J. ;
Bernhisel, Ryan ;
Hughes, Elisha ;
Larson, Katie ;
Rosenthal, Eric T. ;
Singh, Nanda A. ;
Lancaster, Johnathan M. ;
Kurian, Allison W. .
CANCER PREVENTION RESEARCH, 2021, 14 (04) :433-440
[10]   Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers [J].
Lee, Young-Jae ;
Lee, Shin-Wha ;
Kim, Kyu-Rae ;
Jung, Kyung-Hae ;
Lee, Jong-Won ;
Kim, Yong-Man .
JOURNAL OF GYNECOLOGIC ONCOLOGY, 2017, 28 (01)