慢性粒-单核细胞白血病与单核细胞增多MDS的临床特征与预后研究

Clinical Characteristics and Prognosis of Chronic Myeloid Leukemia and Mononucleosis MDS

目的:世界卫生组织(WHO)2022年修订的骨髓增生异常肿瘤分类定义了新的慢性粒-单核细胞白血病(CMML)和骨髓增生异常肿瘤(MDS)诊断标准,探讨属于这些类别的CMML和MDS患者的临床和分子特征。方法:对52例外周血单核细胞绝对计数(AMC)增多伴骨髓病态造血患者按照新标准进行诊断修订并与48例非AMC增多MDS(非MDS-Mo)患者进行比较;回顾性分析不同诊断患者临床特征及预后差别。结果:52例AMC增多伴病态造血者,既往诊断为CMML 35例,其中3例(8.6%)因伴有NPM1突变而修订为急性髓系白血病(AML);既往诊断MDS伴AMC增多17例,其中4例(23.53%)修订为CMML。CMML患者中,AMC≥1.0×10^(9)/L(32例)与AMC<1.0×10^(9)/L(4例)相比,临床特征及预后均无差异。MDS伴单核细胞增多(MDS-Mo)组与CMML组(AMC<1.0×10^(9)/L),驱动基因突变频率存在差异。而MDS-Mo组较非MDS-Mo组,TP53突变及-5/5q-、-7/7q-的染色体核型更多见,前者中位生存期明显缩短(3.85年vs 19.43年)。结论:遵守2022年WHO标准可以更好的区分CMML和AML及MDS,MDS-Mo患者存在特征性分子突变及遗传学特征,预后较CMML及非MDS-Mo差,建议作为MDS独立亚型。

Purpose:The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours defines new diagnostic criteria for chronic myelomonocytic leukemia(CMML)and myelodysplastic neoplasms(MDS).This study aims to explore the clinical and molecular characteristics of CMML and MDS patients belonging to these categories.Method:A thorough review of clinical records of 52 patients with increased peripheral blood absolute monocyte count(AMC)and bone marrow pathological hematopoiesis was performed and their diagnoses were revised according to the new criteria.These patients were compared with 48 non⁃AMC increased MDS(non MDS⁃Mo)patients.A retrospective analysis of clinical characteristics and prognostic differences of patients with different diagnoses was conducted.Results:Among 52 patients with increased AMC and pathological hematopoiesis,35 cases were previously diagnosed with CMML,of which 3 cases(8.6%)were revised to acute myeloid leukemia(AML)due to the presence of NPM1 mutation;17 cases with increased AMC were previously diagnosed with MDS,of which 4 cases(23.52%)were revised to CMML.There was no difference in clinical characteristics and prognosis between CMML patients with AMC≥1.0×10^(9)/L(32 cases)and AMC<1.0×10^(9)/L(4 cases).The MDS with monocytosis group(MDS⁃Mo)showed a difference in the frequency of driving gene mutations from CMML(AMC<1.0×10^(9)/L).Compared to the non MDS⁃Mo group,the MDS⁃Mo group showed more TP53 mutations and chromosomal karyotypes of⁃5/5q⁃,⁃7/7q⁃,with a significantly shorter median survival time(3.85 years vs.19.43 years).Conclusions:Adhering to the 2022 World Health Organization(WHO)standards can better distinguish between CMML and AML,as well as MDS.MDS⁃Mo patients have characteristic molecular mutations and genetic characteristics,and their prognosis is worse than that of patients with CMML and non MDS⁃Mo.Therefore,it is recommended to consider MDS⁃Mo as an independent subtype of MDS.