目标下一代测序揭示了男性和女性乳腺癌之间的基因组差异
Jiyuan Zhu1, Shanshan Xu2, Wei Hua1
1Department of Pathology, The First Affiliated Hospital of Harbin Medical University, Harbin, China.
Translational cancer research
|January 9, 2026
概括
男性乳腺癌 (MBC) 和女性乳腺癌 (FBC) 分享遗传相似性,但也有不同的突变和拷贝数变异. 了解这些基因组差异对于开发针对MBC的向疗法至关重要.
科学领域:
- 基因组学就是基因组学.
- 在瘤学瘤学.
- 生物信息学是一种生物信息学.
背景情况:
- 男性乳腺癌 (MBC) 通常在晚期呈现,与女性乳腺癌 (FBC) 相比,预后较差.
- 目前的MBC诊断和治疗在很大程度上依赖于FBC数据,对男性患者来说可能不理想.
- 有限的研究存在于MBC的特定遗传景观.
研究的目的:
- 调查MBC和FBC之间的遗传相似性和差异.
- 为改善MBC诊断和治疗策略提供基因组基础.
- 探索在男性乳腺癌中准确医学的潜在目标.
主要方法:
- 来自12名MBC和14名FBC患者的甲固定嵌 (FFPE) 样本的高通量测序.
- 生物信息分析用于比较基因组资料,包括点突变和副本数变异 (CNV).
- 在MBC和FBC队列之间对瘤突变负担 (TMB) 的比较分析.
主要成果:
- 在MBC中普遍存在的突变包括*MLL3*和*GATA3*,而FBC显示高率的*TP53*,*PIK3CA*和*MLL3*突变.
- 在MBC和FBC之间观察到*PIK3CA*突变流行率的显著差异.
- *CDK12*和*ERBB2*的CNV在FBC中很常见,但在MBC中没有; *MYC*的CNV在两者中都很常见.
- 女性乳腺癌的瘤突变负担 (TMB) 比男性乳腺癌更高.
- 在ErbB和PI3K-Akt信号通路中,MBC特定的基因得到了丰富.
结论:
- 男性和女性乳腺癌表现出共同的和不同的基因组配置文件.
- 这项研究的基因组见解可以为MBC开发精准医学方法提供信息.
- 对MBC特异性遗传变化的进一步研究是有必要的,以优化临床管理.
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