Chronic myelomonocytic leukemia revisited: A comprehensive review with emphasis on the oligomonocytic subtype.

IF 3 2区 医学 Q2 PATHOLOGY
Sanam Loghavi, Guillermo Montalban-Bravo
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引用次数: 0

Abstract

Oligomonocytic chronic myelomonocytic leukemia (OM-CMML) is defined by an absolute monocyte count of 0.5-<1.0 × 109/L with relative monocytosis ≥10%. This entity was formally recognized in the 2022 WHO Classification of Haematolymphoid Tumours and the International Consensus Classification, representing a paradigm shift from prior thresholds requiring monocyte counts ≥1.0 × 109/L. This change in criteria captures a clinically and biologically meaningful disease state with independent prognostic significance and an almost 50% five-year cumulative incidence of progression to overt CMML. However, this change has also expanded the diagnostic boundaries of OM-CMML into territory previously classified as myelodysplastic syndromes (MDS). Accurate diagnosis requires integration of bone marrow morphology, flow cytometric monocyte subset partitioning, and genomic profiling. Cases harboring biallelic TET2 inactivation or TET2+SRSF2 co-mutation show the highest bone marrow monocyte burden, frequent classical monocyte (MO1; CD14+/CD16-) elevation, and highest progression risk representing biologically true OM-CMML, whereas SF3B1-mutated and biallelic TP53 mutated cases show MDS-directed biology and warrant reclassification. This review synthesizes current diagnostic frameworks, molecular heterogeneity, risk stratification approaches, and evolving classification proposals, thereby providing a practical guide for pathologists navigating OM-CMML in the modern genomic era.

慢性髓单细胞白血病重访:以少单细胞亚型为重点的综合综述。
少单核细胞慢性髓单核细胞白血病(OM-CMML)的定义为绝对单核细胞计数0.5-9/L,相对单核细胞比例≥10%。该实体在2022年世卫组织血淋巴肿瘤分类和国际共识分类中得到正式承认,代表了先前要求单核细胞计数≥1.0 × 109/L的阈值的范式转变。这一标准的改变捕获了具有独立预后意义的临床和生物学意义的疾病状态,并且近50%的五年累积发病率进展为显性CMML。然而,这一变化也扩大了OM-CMML的诊断界限,进入了以前被归类为骨髓增生异常综合征(MDS)的领域。准确的诊断需要整合骨髓形态学,流式细胞术单核细胞亚群分配和基因组谱。双等位基因TET2失活或TET2+SRSF2共突变的病例表现出最高的骨髓单核细胞负荷,频繁的经典单核细胞(MO1; CD14+/CD16-)升高,以及最高的进展风险,代表生物学上真正的m - cmml,而sf3b1突变和双等位基因TP53突变的病例表现出mds定向生物学,需要重新分类。这篇综述综合了当前的诊断框架、分子异质性、风险分层方法和不断发展的分类建议,从而为病理学家在现代基因组时代导航OM-CMML提供了实用指南。
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来源期刊
Human pathology
Human pathology 医学-病理学
CiteScore
5.30
自引率
6.10%
发文量
206
审稿时长
21 days
期刊介绍: Human Pathology is designed to bring information of clinicopathologic significance to human disease to the laboratory and clinical physician. It presents information drawn from morphologic and clinical laboratory studies with direct relevance to the understanding of human diseases. Papers published concern morphologic and clinicopathologic observations, reviews of diseases, analyses of problems in pathology, significant collections of case material and advances in concepts or techniques of value in the analysis and diagnosis of disease. Theoretical and experimental pathology and molecular biology pertinent to human disease are included. This critical journal is well illustrated with exceptional reproductions of photomicrographs and microscopic anatomy.
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