慢性髓性肿瘤的性别差异：从临床观察到潜在生物学。
Sex-Related Differences in Chronic Myeloid Neoplasms: From the Clinical Observation to the Underlying Biology.
机构信息
Division of Hematological Malignancies and Bone Marrow Transplantation, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21231, USA.
Division of Adult Hematology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21231, USA.
出版信息
Int J Mol Sci. 2021 Mar 5;22(5):2595. doi: 10.3390/ijms22052595.
Chronic myeloid neoplasms are clonal diseases with variable clinical course and outcomes and despite the introduction of novel therapies, patients with high-risk disease continue to have overall poor outcomes. Different groups have highlighted that men have overall worse survival and higher incidence of transformation to acute leukemia compared to women across neoplasms such as myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), MDS/MPN overlap neoplasms, and CML. More recent studies evaluating the genomic profile of patients with these neoplasms demonstrated a male predominance for mutations in high-risk genes including , , and . The understanding of the underlying biology is limited but a number of hypotheses have been developed and are currently being investigated. This review summarizes the current knowledge about sex-related differences in the clinical outcomes and genomic profile of patients with chronic myeloid neoplasms and discusses the hypothesized biologic mechanisms as an attempt to explain these observations.
慢性髓系肿瘤是具有不同临床病程和结局的克隆性疾病，尽管引入了新型疗法，但高危疾病患者的总体预后仍然较差。不同的研究小组强调，与女性相比，男性在包括骨髓增生异常综合征 (MDS)、骨髓增殖性肿瘤 (MPN)、MDS/MPN 重叠肿瘤和 CML 等肿瘤中总体生存率更低，急性白血病转化率更高。最近的研究评估了这些肿瘤患者的基因组特征，结果表明，高风险基因的突变以男性为主，包括 、 、 和 。虽然对潜在生物学的了解有限，但已经提出了许多假说，并正在进行研究。本综述总结了目前关于慢性髓系肿瘤患者临床结局和基因组特征的性别差异的知识，并讨论了假设的生物学机制，试图解释这些观察结果。
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