摘要
文章旨在系统阐述乳腺癌治疗相关髓系肿瘤(t-MN)的基因学发病机制,明确其与化疗、放疗等治疗手段的关联性,并探讨胚系突变、体细胞突变及克隆造血在疾病发生中的作用。通过检索和分析近年临床研究与分子生物学证据,发现t-MN的发病机制主要源于治疗诱导的DNA损伤、染色体畸变及表观遗传异常,部分患者携带DNA修复相关基因的胚系突变加剧基因组不稳定性,克隆性造血、分子甲基化及骨髓微环境损伤等机制协同推动恶性转化。结论表明,优化乳腺癌治疗方案需平衡疗效与继发肿瘤风险,优先选择低基因毒性药物,并对高危人群加强监测;防治策略的长期效果仍需前瞻性研究验证。
The present review aims to systematically elaborate on the genetic pathogenesis of therapy-related myeloid neoplasms(t-MN)associated with breast cancer,to clarify their correlation with treatment modalities such as chemotherapy and radiotherapy,and to discuss the roles of germline mutations,somatic mutations,and clonal hematopoiesis in disease occurrence.By retrieving and analyzing recent clinical studies and molecular biological evidence,it was found that the pathogenesis of t-MN mainly stems from treatment-induced DNA damage,chromosomal abnormalities,and epigenetic alterations.Furthermore,the genomic instability is observed to be exacerbated in some patients due to the presence of genetic mutations related to DNA repair.The interplay of clonal hematopoiesis,molecular methylation,and bone marrow microenvironment injury has been shown to promote malignant transformation through mechanisms involving inflammatory factor secretion.The conclusion indicates that optimizing breast cancer treatment strategies requires balancing efficacy with the risk of secondary tumors,prioritizing low-genotoxicity drugs,and strengthening monitoring in high-risk populations;the long-term effectiveness of preventive and therapeutic strategies still needs verification through prospective studies.
作者
姜雨婷
洪嘉欣
洪梅
JIANG Yuting;HONG Jiaxin;HONG Mei(Department of Hematology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430022,China;Cancer Center,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430022,China)
出处
《临床血液学杂志》
2025年第11期922-928,共7页
Journal of Clinical Hematology
关键词
治疗相关髓系肿瘤
乳腺癌
基因学机制
therapy-related myeloid neoplasm
breast cancer
genetic mechanism
