# Chinese guidelines for diagnosis and treatment of myelodysplastic neoplasms (2026)

PMC · DOI: 10.3760/cma.j.cn121090-20251205-00574 · Chinese Journal of Hematology · 2026-02-01

## TL;DR

This paper presents updated Chinese guidelines for diagnosing and treating myelodysplastic neoplasms, incorporating recent research and WHO classification changes.

## Contribution

The paper provides revised clinical guidelines for MDS diagnosis and treatment based on recent advancements and updated WHO classifications.

## Key findings

- MDS is a heterogeneous group of myeloid tumors with risk of progressing to acute myeloid leukemia.
- Recent advances in basic research and targeted therapies have influenced the updated guidelines.
- The fifth edition of the WHO classification has updated the MDS categorization.

## Abstract

骨髓增生异常肿瘤（MDS）是一组起源于造血干细胞的高度异质性髓系肿瘤，临床表现为一系或多系血细胞减少，有向急性髓系白血病转化的风险。近年来，MDS在基础研究和新型靶向药物治疗方面取得了较大进展，第五版WHO分类对MDS的分型进行了更新。因此，中华医学会血液学分会对《骨髓增生异常综合征中国诊断与治疗指南（2019年版）》进行了修订，以规范MDS的诊断、鉴别诊断、预后评估及治疗选择，从而更好地指导临床实践。

## Linked entities

- **Diseases:** acute myeloid leukemia (MONDO:0015667)

## Full-text entities

- **Genes:** ITGB3 (integrin subunit beta 3) [NCBI Gene 3690] {aka BDPLT16, BDPLT2, BDPLT24, CD61, FMAIT1, GP3A}, 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}, ETV6 (ETS variant transcription factor 6) [NCBI Gene 2120] {aka TEL, TEL/ABL, THC5}, CSF3 (colony stimulating factor 3) [NCBI Gene 1440] {aka C17orf33, CSF3OS, GCSF}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, NPM1 (nucleophosmin 1) [NCBI Gene 4869] {aka B23, NPM}, CSF2 (colony stimulating factor 2) [NCBI Gene 1437] {aka CSF, GMCSF}, STAT3 (signal transducer and activator of transcription 3) [NCBI Gene 6774] {aka ADMIO, ADMIO1, APRF, HIES}, DDX41 (DEAD-box helicase 41) [NCBI Gene 51428] {aka ABS, MPLPF}, 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}, CBL (Cbl proto-oncogene) [NCBI Gene 867] {aka C-CBL, CBL2, FRA11B, NSLL, RNF55}, ASXL1 (ASXL transcriptional regulator 1) [NCBI Gene 171023] {aka BOPS, MDS}, CEBPA (CCAAT enhancer binding protein alpha) [NCBI Gene 1050] {aka C/EBP-alpha, CEBP}, EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) [NCBI Gene 2146] {aka ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS}, CD34 (CD34 molecule) [NCBI Gene 947], KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}, KRT20 (keratin 20) [NCBI Gene 54474] {aka CD20, CK-20, CK20, K20, KRT21}, SRP72 (signal recognition particle 72) [NCBI Gene 6731] {aka BMFF, BMFS1, HEL103}, FLT3 (fms related receptor tyrosine kinase 3) [NCBI Gene 2322] {aka CD135, FLK-2, FLK2, STK1}, CD68 (CD68 molecule) [NCBI Gene 968] {aka GP110, LAMP4, SCARD1}, 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}, GATA2 (GATA binding protein 2) [NCBI Gene 2624] {aka DCML, IMD21, MONOMAC, NFE1B}, DNMT3A (DNA methyltransferase 3 alpha) [NCBI Gene 1788] {aka DNMT3A2, HESJAS, M.HsaIIIA, TBRS}, TPO (thyroid peroxidase) [NCBI Gene 7173] {aka MSA, TDH2A, TPX}
- **Diseases:** clonal cytopenia of undetermined significance (MESH:D065309), cytopenia (MESH:D006402), OS (MESH:C567932), PD (MESH:D010300), SD (MESH:D012735), AML (MESH:D015470), potential (MESH:C537245), HIV       EB (MESH:D015658), MDS-EB (MESH:D009190), myeloid tumors (MESH:D009369), clonal hematopoiesis (MESH:C536227)
- **Chemicals:** AZA (MESH:D001379), Azacitidine (MESH:D001374), B12 (MESH:C034730), AZA DAC (-), ATRA (MESH:D014212), DAC (MESH:D000077209)
- **Mutations:** -13 del

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC13008562/full.md

## References

24 references — full list in the complete paper: https://tomesphere.com/paper/PMC13008562/full.md

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Source: https://tomesphere.com/paper/PMC13008562