BRCA1、2双突变的高级别浆液性输卵管癌病例报告及文献复习
Case Report and Literature Review of High-Grade Serous Tubal Carcinoma with BRCA1/2 Double Mutation
DOI: 10.12677/acm.2025.15113144, PDF,   
作者: 李世娇, 王钊松：青岛大学医学院，山东 青岛；夏 敏*：青岛大学附属烟台毓璜顶医院妇科，山东 烟台
关键词: BRCA1、2双突变；高级别浆液性癌；PARP抑制剂；遗传咨询；个体化治疗；BRCA1/2 Double Mutations； High-Grade Serous Carcinoma； PARP Inhibitors； Genetic Counseling； Personalized Treatment
摘要: 本文报告了一例BRCA1、2双突变的高级别浆液性输卵管癌患者的病例。该患者为60岁女性，因不规则阴道流血就诊，经检查确诊为高级别浆液性输卵管癌。基因检测发现患者竟同时携带BRCA1和BRCA2致病性突变。患者已接受了肿瘤细胞减灭术和以铂类为基础的化疗，目前还未考虑接受PARP抑制剂维持治疗。本文详细描述了患者的临床表现、诊断过程、治疗方案及随访结果，探讨了BRCA1、2双突变对卵巢癌的影响及其临床意义，为类似病例的诊治提供了参考。
Abstract: This article reports a case of high-grade serous tubal carcinoma (HGSC) in a patient with BRCA1/2 double mutations. The patient was a 60-year-old female who presented with irregular vaginal bleeding. Following clinical evaluations, she was diagnosed with high-grade serous tubal carcinoma. Genetic testing revealed that the patient harbored pathogenic mutations in both BRCA1 and BRCA2 genes. She has undergone debulking surgery and platinum-based chemotherapy, and maintenance therapy with PARP inhibitors has not been considered at present. This article details the patient’s clinical manifestations, diagnostic process, treatment regimen, and follow-up results, discusses the impact of BRCA1/2 double mutations on ovarian cancer and their clinical significance, and provides a reference for the diagnosis and management of similar cases.
文章引用：李世娇, 王钊松, 夏敏. BRCA1、2双突变的高级别浆液性输卵管癌病例报告及文献复习[J]. 临床医学进展, 2025, 15(11): 668-673. https://doi.org/10.12677/acm.2025.15113144

参考文献

[1] Li, H.X., Lu, Z.H., Shen, K., et al. (2014) Advances in Serous tubal Intraepithelial Carcinoma: Correlation with High Grade Serous Carcinoma and Ovarian Carcinogenesis. International Journal of Clinical and Experimental Pathology, 7, 848-857.
[2] Varol, U., Kucukzeybek, Y., Alacacioglu, A., et al. (2018) BRCA Genes: BRCA 1 and BRCA 2. Official Journal of the Balkan Union of Oncology, 23, 862-866.
[3] Jarboe, E.A., Folkins, A.K., Drapkin, R., Ince, T.A., Agoston, E.S. and Crum, C.P. (2008) Tubal and Ovarian Pathways to Pelvic Epithelial Cancer: A Pathological Perspective. Histopathology, 53, 127-138. [Google Scholar] [CrossRef] [PubMed]
[4] Neff, R.T., Senter, L. and Salani, R. (2017) BRCA Mutation in Ovarian Cancer: Testing, Implications and Treatment Considerations. Therapeutic Advances in Medical Oncology, 9, 519-531. [Google Scholar] [CrossRef] [PubMed]
[5] 杨洁; 向阳. 2023年度卵巢癌药物治疗研究进展[J]. 肿瘤综合治疗电子杂志, 2024, 10(1): 58-62.
[6] 李洁, 姜洁. 卵巢癌靶向治疗应用及进展[J]. 中国妇产科临床杂志, 2024, 25(4): 289-291.
[7] Chambon, P., Weill, J.D. and Mandel, P. (1963) Nicotinamide Mononucleotide Activation of a New DNA-Dependent Polyadenylic Acid Synthesizing Nuclear Enzyme. Biochemical and Biophysical Research Communications, 11, 39-43. [Google Scholar] [CrossRef] [PubMed]
[8] Bryant, H.E., Schultz, N., Thomas, H.D., Parker, K.M., Flower, D., Lopez, E., et al. (2005) Specific Killing of BRCA2-Deficient Tumours with Inhibitors of Poly(ADP-Ribose) Polymerase. Nature, 434, 913-917. [Google Scholar] [CrossRef] [PubMed]
[9] DiSilvestro, P., Banerjee, S., Colombo, N., et al. (2023) Overall Survival with Maintenance Olaparib at a 7-Year Follow-Up in Patients with Newly Diagnosed Advanced Ovarian Cancer and a BRCA Mutation: The SOLO1/GOG 3004 Trial. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 41, 609-617.
[10] Marchetti, C., Fagotti, A., Fruscio, R., Cassani, C., Incorvaia, L., Perri, M.T., et al. (2025) Benefit from Maintenance with PARP Inhibitor in Newly Diagnosed Ovarian Cancer According to BRCA1/2 Mutation Type and Site: A Multicenter Real-World Study. ESMO Open, 10, Article 104533. [Google Scholar] [CrossRef] [PubMed]
[11] Kuchenbaecker, K.B., Hopper, J.L., Barnes, D.R., et al. (2017) Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA, 317, 2402-2416.
[12] McGuigan, A., Whitworth, J., Andreou, A., Hearn, T., Ambrose, J.C., Arumugam, P., et al. (2022) Multilocus Inherited Neoplasia Allele Syndrome (MINAS): An Update. European Journal of Human Genetics, 30, 265-270. [Google Scholar] [CrossRef] [PubMed]
[13] Liede, A., Rehal, P., Vesprini, D., Jack, E., Abrahamson, J. and Narod, S.A. (1998) A Breast Cancer Patient of Scottish Descent with Germ-Line Mutations in BRCA1 and BRCA2. The American Journal of Human Genetics, 62, 1543-1544. [Google Scholar] [CrossRef] [PubMed]
[14] Leegte, B., van der Hout, A.H., Deffenbaugh, A.M., Bakker, M.K., Mulder, I.M., ten Berge, A., et al. (2005) Phenotypic Expression of Double Heterozygosity for BRCA1 and BRCA2 Germline Mutations. Journal of Medical Genetics, 42, e20-e20. [Google Scholar] [CrossRef] [PubMed]
[15] Wen, S., Zhang, M., Chen, J., Hu, L., Sun, J., Yao, L., et al. (2024) Characteristics of Chinese Breast Cancer Patients with Double Heterozygosity for BRCA1 and BRCA2 Germline Pathogenic Variants. Breast Cancer Research and Treatment, 208, 155-164. [Google Scholar] [CrossRef] [PubMed]
[16] Godet, I. and M. Gilkes, D. (2017) BRCA1 and BRCA2 Mutations and Treatment Strategies for Breast Cancer. Integrative Cancer Science and Therapeutics, 4, 1-7. [Google Scholar] [CrossRef] [PubMed]
[17] Liu, J., Berchuck, A., Backes, F.J., Cohen, J., Grisham, R., Leath, C.A., et al. (2024) NCCN Guidelines® Insights: Ovarian Cancer/Fallopian Tube Cancer/Primary Peritoneal Cancer, Version 3.2024. Journal of the National Comprehensive Cancer Network, 22, 512-519. [Google Scholar] [CrossRef] [PubMed]
[18] Casaubon, J.T., Kashyap, S. and Regan, J.P. (2025) BRCA1 and BRCA2 Mutations. StatPearls Publishing.
[19] Stjepanovic, N., Villacampa, G., Nead, K.T., Torres-Esquius, S., Melis, G.G., Nathanson, K.L., et al. (2020) Association of Premenopausal Risk-Reducing Salpingo-Oophorectomy with Breast Cancer Risk in BRCA1/2 Mutation Carriers: Maximising Bias-Reduction. European Journal of Cancer, 132, 53-60. [Google Scholar] [CrossRef] [PubMed]

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