# How I diagnose and treat chronic myelomonocytic leukemia

**Authors:** 志坚 肖

PMC · DOI: 10.3760/cma.j.cn121090-20251217-00597 · Chinese Journal of Hematology · 2026-02-01

## TL;DR

This paper discusses the diagnosis and treatment of chronic myelomonocytic leukemia (CMML) based on updated WHO and ICC standards and new prognostic systems.

## Contribution

The paper provides a systematic overview of current diagnostic and therapeutic approaches to CMML informed by recent classification and prognostic advancements.

## Key findings

- The 2022 WHO and ICC standards have significantly revised CMML diagnostic and classification criteria.
- New prognostic scoring systems like CPSS-Mol and BLAST-Mol integrate cytogenetic and molecular data.
- Treatment decisions should consider prognosis, symptoms, disease progression, and patient preferences.

## Abstract

慢性粒-单核细胞白血病（CMML）是一种同时具有骨髓增生异常和骨髓增殖特征的起源于造血干/祖细胞的髓系肿瘤。2022年第五版WHO诊断标准（WHO 2022）分类标准和国际共识标准（ICC）中对CMML的诊断、分型标准做了较大的修改。此外，在既往提出的CMML特异性预后积分系统（CPSS）基础上结合细胞遗传学和分子学新近又相继提出了CPSS-Mol、BLAST和BLAST-Mol等新的预后积分系统，CMML患者的治疗方案应在预后分组的基础上结合患者的症状、疾病负荷（血细胞减少或增殖表现）、疾病进展证据以及患者的个体状况和意愿综合考虑后做出。本文结合笔者诊治的病例对CMML的诊断和治疗要点与认识现况做了系统阐述。

## Linked entities

- **Diseases:** chronic myelomonocytic leukemia (MONDO:0011908), CMML (MONDO:0020311)

## Full-text entities

- **Genes:** SF3B1 (splicing factor 3b subunit 1) [NCBI Gene 23451] {aka Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155}, EPO (erythropoietin) [NCBI Gene 2056] {aka DBAL, ECYT5, EP, MVCD2}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, RUNX1 (RUNX family transcription factor 1) [NCBI Gene 861] {aka AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1}, U2AF1 (U2 small nuclear RNA auxiliary factor 1) [NCBI Gene 7307] {aka FP793, RN, RNU2AF1, U2AF35, U2AFBP}, CALR (calreticulin) [NCBI Gene 811] {aka CALR1, CRT, HEL-S-99n, RO, SSA, cC1qR}, CSF3 (colony stimulating factor 3) [NCBI Gene 1440] {aka C17orf33, CSF3OS, GCSF}, NPM1 (nucleophosmin 1) [NCBI Gene 4869] {aka B23, NPM}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, SETBP1 (SET binding protein 1) [NCBI Gene 26040] {aka MRD29, SEB}, HLA-A (major histocompatibility complex, class I, A) [NCBI Gene 3105] {aka HLAA}, FCGR3A (Fc gamma receptor IIIa) [NCBI Gene 2214] {aka CD16-II, CD16A, FCG3, FCGR3, FCRIIIA, FcGRIIIA}, TET2 (tet methylcytosine dioxygenase 2) [NCBI Gene 54790] {aka IMD75, KIAA1546, MDS}, ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2) [NCBI Gene 8233] {aka OFD21, U2AF1-RS2, U2AF1L2, U2AF1RS2, URP, ZC3H22}, IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417] {aka HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC}, SRSF2 (serine and arginine rich splicing factor 2) [NCBI Gene 6427] {aka PR264, SC-35, SC35, SFRS2, SFRS2A, SRp30b}, GATA2 (GATA binding protein 2) [NCBI Gene 2624] {aka DCML, IMD21, MONOMAC, NFE1B}, ANPEP (alanyl aminopeptidase, membrane) [NCBI Gene 290] {aka AP-M, AP-N, APN, CD13, GP150, LAP1}, DNMT3A (DNA methyltransferase 3 alpha) [NCBI Gene 1788] {aka DNMT3A2, HESJAS, M.HsaIIIA, TBRS}, PHF6 (PHD finger protein 6) [NCBI Gene 84295] {aka BFLS, BORJ, CENP-31}, TPO (thyroid peroxidase) [NCBI Gene 7173] {aka MSA, TDH2A, TPX}, NRAS (NRAS proto-oncogene, GTPase) [NCBI Gene 4893] {aka ALPS4, CMNS, N-ras, NCMS, NRAS1, NS6}, IDH2 (isocitrate dehydrogenase (NADP(+)) 2) [NCBI Gene 3418] {aka D2HGA2, ICD-M, IDH, IDH-2, IDHM, IDP}, CD14 (CD14 molecule) [NCBI Gene 929], EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) [NCBI Gene 2146] {aka ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS}, CD38 (CD38 molecule) [NCBI Gene 952] {aka ADPRC 1, ADPRC1, cADPR1}, ITGAM (integrin subunit alpha M) [NCBI Gene 3684] {aka CD11B, CR3A, HNA-4, MAC-1, MAC1A, MO1A}, KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}, PTPN11 (protein tyrosine phosphatase non-receptor type 11) [NCBI Gene 5781] {aka BPTP3, CFC, JMML, METCDS, NS1, PTP-1D}, CD300E (CD300e molecule) [NCBI Gene 342510] {aka CD300LE, CLM-2, CLM2, CMRF35-A5, IREM-2, IREM2}, CBL (Cbl proto-oncogene) [NCBI Gene 867] {aka C-CBL, CBL2, FRA11B, NSLL, RNF55}, NF1 (neurofibromin 1) [NCBI Gene 4763] {aka NFNS, VRNF, WSS}, ASXL1 (ASXL transcriptional regulator 1) [NCBI Gene 171023] {aka BOPS, MDS}, JAK2 (Janus kinase 2) [NCBI Gene 3717] {aka JTK10}
- **Diseases:** 0,4 (MESH:C566917), AML (MESH:D015470), ICC (MESH:C566123), MD (MESH:C535955), Clonal cytopenia with monocytosis of undetermined significance (MESH:D065309), cytopenias (MESH:D006402), CMML-0,1 (MESH:D015477), myeloid neoplasms (MESH:D009369), MDS (MESH:D009190), CML (MESH:D015464)
- **Species:** Human immunodeficiency virus 1 (no rank) [taxon 11676], Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.2143_2171dup, 4139A>T, 101C>T, p.R725Efs*10, p.G12D, c.751C>T, c.35G>A, p.H1380L, p.L380P, p.G12S, p.P95H, 1927dupG

## Full text

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## References

16 references — full list in the complete paper: https://tomesphere.com/paper/PMC13008557/full.md

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Source: https://tomesphere.com/paper/PMC13008557