2 Department of Internal Medicine - Propaedeutic and Research Unit, National and Kapodistrian University of Athens, Medical School, University General Hospital "Attikon" , Athens, Greece.
Expert Rev Hematol. 2021 Jan;14(1):59-77. doi: 10.1080/17474086.2021.1860004. Epub 2020 Dec 12.
Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm, denoted by overlapping myelodysplastic and myeloproliferative features, with poor overall survival and high transformation rate to acute myeloid leukemia.
This review, following a thorough Medline search of pertinent published literature, discusses the diagnostic criteria, the pathogenesis, and the complex genetic landscape of the disease. Prognostication, response criteria, therapeutic management of patients, efficacy of established and novel treatment modalities are thoroughly reviewed.
Cytogenetic abnormalities and mutations in genes involved in epigenetic and transcriptional regulation, and cell-signaling are abundant in CMML and implicated in its complex pathogenesis. As presence of these mutations carry a prognostic impact, they are increasingly incorporated in risk-stratification schemes. Novel response criteria have been proposed, considering the unique features of the disease. Although allogeneic hematopoietic stem cell transplantation remains the only treatment with curative intent, it is reserved for a minority of patients; therefore, there is an unmet need for optimizing treatment modalities, such as hypomethylating agents, and introducing novel agents, which could substantially improve survival and quality of life of CMML patients. Clinical trials dedicated specifically to CMML are needed to explore the efficacy and safety of novel treatment modalities.
慢性髓单核细胞白血病（CMML）是一种克隆性髓系肿瘤，具有重叠的骨髓增生异常和骨髓增殖性特征，总体存活率低，向急性髓系白血病转化的比例高。
本综述通过对相关已发表文献的全面 Medline 检索，讨论了该病的诊断标准、发病机制和复杂的遗传特征。预后、反应标准、患者治疗管理、既定和新型治疗方法的疗效都进行了全面的回顾。
CMML 中存在丰富的细胞遗传学异常和涉及表观遗传和转录调控以及细胞信号转导的基因突变，这些异常和突变参与了其复杂的发病机制。由于这些突变的存在具有预后影响，因此它们越来越多地被纳入风险分层方案中。已经提出了新的反应标准，考虑到该疾病的独特特征。虽然异基因造血干细胞移植仍然是唯一具有治愈意向的治疗方法，但只有少数患者可以进行这种治疗；因此，需要优化治疗方法，例如低甲基化剂，并引入新型药物，这可以显著改善 CMML 患者的生存和生活质量。需要专门针对 CMML 的临床试验来探索新型治疗方法的疗效和安全性。
