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男性乳腺癌合并泌乳素瘤的全外显子组测序:一例报告及文献综述

Whole Exome Sequencing in the Male Breast Cancer with Prolactinoma: A Case Report and Literature Review.

作者信息

Hao Shuai, Huang Miao, Tian Wuguo, Chen Yi, Zhao Jianjie, Luo Donglin

机构信息

Department of Breast, Thyroid Surgery, Daping Hospital, Army Medical University, Chongqing, China.

Nursing School, Chongqing Medical University, Chongqing, China.

出版信息

J Breast Cancer. 2020 Dec;23(6):656-664. doi: 10.4048/jbc.2020.23.e63.

DOI:10.4048/jbc.2020.23.e63
PMID:33408891
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7779730/
Abstract

Male breast cancer (MBC) is rare and accounts for approximately 1% of all breast cancer cases worldwide. Previous studies have suggested that several factors significantly increase the risk of MBC. Prolactinoma has the highest incidence rate among patients with functional pituitary tumors. However, whether prolactinoma is involved in the onset and progression of breast cancer remains unclear. To date, there are only five case reports globally on MBC with concurrent prolactinoma. We hereby describe the first case of MBC with prolactinoma in China. We also explored the patient's genetic profile using whole exome sequencing. Our findings may help advance our understanding of the molecular pathogenesis of MBC. Further molecular analyses of such cases are warranted to improve auxiliary molecular diagnostic methods and targeted therapy for MBC.

摘要

男性乳腺癌(MBC)较为罕见,约占全球所有乳腺癌病例的1%。既往研究表明,有几个因素会显著增加MBC的发病风险。泌乳素瘤在功能性垂体肿瘤患者中发病率最高。然而,泌乳素瘤是否参与乳腺癌的发生和发展仍不清楚。迄今为止,全球仅有5例关于合并泌乳素瘤的MBC病例报告。我们在此描述中国首例合并泌乳素瘤的MBC病例。我们还使用全外显子测序技术探究了该患者的基因图谱。我们的研究结果可能有助于增进我们对MBC分子发病机制的理解。有必要对这类病例进行进一步的分子分析,以改进MBC的辅助分子诊断方法和靶向治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/ecb89c7c8985/jbc-23-656-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/988033737902/jbc-23-656-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/0f4b56fef361/jbc-23-656-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/22695e779484/jbc-23-656-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/22d193a6c491/jbc-23-656-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/89d943331009/jbc-23-656-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/ecb89c7c8985/jbc-23-656-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/988033737902/jbc-23-656-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/0f4b56fef361/jbc-23-656-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/22695e779484/jbc-23-656-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/22d193a6c491/jbc-23-656-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/89d943331009/jbc-23-656-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/25fc/7779730/ecb89c7c8985/jbc-23-656-g006.jpg

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本文引用的文献

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N Engl J Med. 2018 Jun 14;378(24):2311-2320. doi: 10.1056/NEJMra1707939.
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Gain- and Loss-of-Function Mutations in the Breast Cancer Gene GATA3 Result in Differential Drug Sensitivity.乳腺癌基因GATA3的功能获得性和功能丧失性突变导致不同的药物敏感性。
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垂体瘤与其他恶性肿瘤的风险:这种关系是巧合还是因果关系?
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The Significance and Therapeutic Potential of GATA3 Expression and Mutation in Breast Cancer: A Systematic Review.GATA3 表达与突变在乳腺癌中的意义及治疗潜能:系统综述
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Hospitalization for Inflammatory Bowel Disease is Associated with Increased Risk of Breast Cancer: A Nationwide Cohort Study of an Asian Population.炎症性肠病住院与乳腺癌风险增加相关:一项针对亚洲人群的全国性队列研究
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Hyperprolactinemia and prolactinoma.高催乳素血症与催乳素瘤。
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A 20-year prospective study of plasma prolactin as a risk marker of breast cancer development.一项针对血浆催乳素作为乳腺癌发展风险标志物的 20 年前瞻性研究。
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