Lasho Terra, Patnaik Mrinal M
Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Best Pract Res Clin Haematol. 2021 Mar;34(1):101244. doi: 10.1016/j.beha.2021.101244. Epub 2021 Jan 16.
Chronic myelomonocytic leukemia (CMML) is a rare, age-related myeloid neoplasm with overlapping features of myelodysplastic syndromes/myeloproliferative neoplasms. Although gene mutations involving TET2, ASXL1 and SRSF2 are common, there are no specific molecular alterations that define the disease. Allogeneic stem cell transplant is the only curative option, with most patients not qualifying, due to advanced age at diagnosis and comorbidities. The only approved treatment options are hypomethylating agents; drugs that fail to alter the disease course or affect mutant allele burdens. Clinically CMML can be sub-classified into proliferative (pCMML) and dysplastic (dCMML) subtypes, with pCMML being associated with signaling mutations, myeloproliferative features, and a shorter overall survival. Given the paucity of effective treatment strategies there is a need for rationally informed and biomarker driven studies. This report will discuss current and prospective therapies for CMML and discuss the role for personalized therapeutics.
慢性粒单核细胞白血病（CMML）是一种罕见的、与年龄相关的髓系肿瘤，具有骨髓增生异常综合征/骨髓增殖性肿瘤的重叠特征。虽然涉及TET2、ASXL1和SRSF2的基因突变很常见，但没有明确该疾病的特定分子改变。异基因干细胞移植是唯一的治愈选择，但大多数患者由于诊断时年龄较大和合并症而不符合条件。唯一获批的治疗选择是去甲基化药物；这些药物无法改变疾病进程或影响突变等位基因负担。临床上，CMML可分为增殖型（pCMML）和发育异常型（dCMML）亚型，pCMML与信号突变、骨髓增殖特征和较短的总生存期相关。鉴于有效治疗策略的匮乏，需要进行合理的、基于生物标志物的研究。本报告将讨论CMML的当前和未来疗法，并探讨个性化治疗的作用。
