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携带BRCA2和BRIP1双有害基因突变的男性乳腺癌

Male Breast Cancer With Dual BRCA2 and BRIP1 Deleterious Gene Mutations.

作者信息

Badve Shivani B, Kim Emily, Sibia Udai S, Borrego Orestes T, Vara Stephen, Damron Alexander, Riker Adam I

机构信息

Department of Surgery, Luminis Health, Annapolis, MD.

Loyola University Chicago, Chicago, IL.

出版信息

Ochsner J. 2024 Summer;24(2):157-161. doi: 10.31486/toj.23.0119.

Abstract

Male breast cancer remains relatively underexplored in the medical literature. At present, male patients with breast cancer follow the same treatment guidelines as female patients with breast cancer, principally because of similar outcomes with treatment. However, this practice should not preclude generating evidence for male breast cancer surveillance, diagnosis, and management. BRCA2 gene mutations are associated with an increased risk of male breast cancer, along with lesser-known gene mutations that could also increase this risk, such as mutations of the BRIP1 gene. This case report presents a male patient with dual BRCA2 and BRIP1 deleterious gene mutations. To our knowledge, this combination has not been reported in the medical literature to date. A 53-year-old male presented with a palpable symptomatic mass underneath the right nipple-areolar complex. Biopsies confirmed a poorly differentiated, infiltrating ductal carcinoma that was estrogen and progesterone receptor positive and human epidermal growth factor receptor-2 negative. The patient underwent a left modified radical mastectomy, with a right prophylactic simple mastectomy. Postoperatively, he underwent adjuvant chemotherapy and endocrine therapy. This novel case of genetically based male breast cancer with dual deleterious gene mutations provides insight into current treatment recommendations and the subtle differences between male breast cancer and female breast cancer. Engaging in discussions surrounding such rare cases not only raises awareness of male breast cancer but also indicates the need for further research aimed at establishing evidence-based management strategies for male patients with breast cancer.

摘要

男性乳腺癌在医学文献中仍相对未得到充分研究。目前,男性乳腺癌患者遵循与女性乳腺癌患者相同的治疗指南,主要是因为治疗结果相似。然而,这种做法不应妨碍为男性乳腺癌的监测、诊断和管理提供证据。BRCA2基因突变与男性乳腺癌风险增加相关,还有一些鲜为人知的基因突变也可能增加这种风险,比如BRIP1基因的突变。本病例报告介绍了一名同时存在BRCA2和BRIP1有害基因突变的男性患者。据我们所知,这种基因组合迄今为止在医学文献中尚未有报道。一名53岁男性患者,其右侧乳头乳晕复合体下方可触及有症状的肿块。活检证实为低分化浸润性导管癌,雌激素和孕激素受体呈阳性,人表皮生长因子受体2呈阴性。该患者接受了左侧改良根治性乳房切除术及右侧预防性单纯乳房切除术。术后,他接受了辅助化疗和内分泌治疗。这例具有双重有害基因突变的基于遗传的男性乳腺癌新病例,为当前的治疗建议以及男性乳腺癌与女性乳腺癌之间的细微差异提供了见解。围绕此类罕见病例展开讨论,不仅能提高对男性乳腺癌的认识,还表明需要进一步开展研究,以建立针对男性乳腺癌患者的循证管理策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e0f/11192226/e38050ef2cc0/toj-23-0119-figure1.jpg

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