Research progress of hematopoietic stem cell transplantation in the treatment of myelodysplastic syndromes

doi:10.3877/cma.j.issn.2095-1221.2026.05.005

Abstract

Abstract:

Myelodysplastic syndromes (MDS) are a group of clonal myeloid disorders originating from hematopoietic stem cells, which are characterized by high heterogeneity and potentially aggressive behavior. Treatment selection is primarily determined by the patient's risk category and therapeutic urgency. Currently, hematopoietic stem cell transplantation (HSCT) remains the only potentially curative treatment for MDS. This article systematically reviews the pathogenesis of MDS and its association with transplant prognosis, clinical treatment strategies, and research progress in HSCT for MDS. Specifically, it focuses on the controversy and advantages of hypomethylating agents combined with venetoclax (HMA+VEN) as pre-transplant bridging therapy, the innovation of post-transplant cyclophosphamide (PTCy) in graft-versus-host disease (GVHD) prophylaxis strategies, precision selection of novel conditioning regimens, and the latest strategies for post-transplant relapse prevention and minimal residual disease (MRD) monitoring and management. The aim is to provide a reference for individualized treatment of MDS patients.

Key words: Myelodysplastic syndromes, Hematopoietic stem cell transplantation, Graft-versus-host disease, Minimal residual disease

Xue Yao, Peiqi Cao, Linhua Yang. Research progress of hematopoietic stem cell transplantation in the treatment of myelodysplastic syndromes[J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2026, 16(05): 292-297.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhxbygxbzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-1221.2026.05.005

https://zhxbygxbzz.cma-cmc.com.cn/EN/Y2026/V16/I05/292

Figures/Tables 1

References 61

1	Garcia-Manero G. Myelodysplastic syndromes:2023 update on diagnosis, risk-stratification, and management[J]. Am J Hematol, 2023, 98(8):1307-1325.
2	National Cancer Institute. SEER*Explorer:Myelodysplastic syndromes (MDS) recent trends in age-adjusted incidence rates, 2001-2022[EB/OL]. 2025-11-10. URL
3	Li H, Hu F, Gale RP, et al. Myelodysplastic syndromes[J]. Nat Rev Dis Primers, 2022, 8(1):74.
4	Qimudesiren, Yin W, Wang Y, et al. Hematopoietic stem cell transplantation in the management of myelodysplastic syndrome:a retrospective, current, and future perspective[J]. Cell Transplant, 2024, 33:9636897241284283.
5	Bischof L, Ussmann J, Platzbecker U, et al. Allogeneic stem cell transplantation for MDS-clinical issues, choosing preparative regimens and outcome[J]. Leuk Lymphoma, 2025, 66(8):1362-1375.
6	Hosono N. Genetic abnormalities and pathophysiology of MDS[J]. Int J Clin Oncol, 2019, 24(8):885-892.
7	Bruzzese A, Martino EA, Mendicino F, et al. Myelodysplastic syndromes del(5q):pathogenesis and its therapeutic implications[J]. Eur J Haematol, 2024, 112(6):860-869.
8	Nakajima H. Molecular pathogenesis and treatment of myelodysplastic syndromes[J]. Intern Med, 2021, 60(1):15-23.
9	Nawas MT, Kosuri S. Utility or futility? A contemporary approach to allogeneic hematopoietic cell transplantation for TP53-mutated MDS/AML[J]. Blood Adv, 2024, 8(3):553-561.
10	Bejar R, Stevenson KE, Caughey B, et al. Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation[J]. J Clin Oncol, 2014, 32(25):2691-2698.
11	张玉培, 谢新生, 石雅洁, 等. 异基因造血干细胞移植治疗ASXL1基因突变的骨髓增生异常综合征患者的效果[J]. 实用医学杂志, 2023, 39(23):3087-3092.
12	洪明华, 常春康. 骨髓增生异常肿瘤的骨髓微环境促进疾病发生发展的机制[J]. 中华血液学杂志, 2023, 44(4):350-352.
13	李凡, 何海萍, 张丽华, 等. 骨髓增生异常综合征患者来源间充质干细胞的最新研究进展[J]. 中国实验血液学杂志, 2022, 30(4):1286-1290.
14	Li K, Shi H, Zhang B, et al. Myeloid-derived suppressor cells as immunosuppressive regulators and therapeutic targets in cancer[J]. Signal Transduct Target Ther, 2021, 6(1):362.
15	Krüger T, Wehner R, Herbig M, et al. Perturbations of mesenchymal stromal cells after allogeneic hematopoietic cell transplantation predispose for bone marrow graft-versus-host-disease[J]. Front Immunol, 2022, 13:1005554.
16	Rodriguez-Sevilla JJ, Colla S. Inflammation in myelodysplastic syndrome pathogenesis[J]. Semin Hematol, 2024, 61(6):385-396.
17	Hellström-Lindberg E, van de Loosdrecht A. Erythropoiesis stimulating agents and other growth factors in low-risk MDS[J]. Best Pract Res Clin Haematol, 2013, 26(4):401-410.
18	List A, Dewald G, Bennett J, et al. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion[J]. N Engl J Med, 2006, 355(14):1456-1465.
19	Toma A, Kosmider O, Chevret S, et al. Lenalidomide with or without erythropoietin in transfusion-dependent erythropoiesis-stimulating agent-refractory lower-risk MDS without 5q deletion[J]. Leukemia, 2016, 30(4):897-905.
20	Zhou L, McMahon C, Bhagat T, et al. Reduced SMAD7 leads to overactivation of TGF-beta signaling in MDS that can be reversed by a specific inhibitor of TGF-beta receptor I kinase[J]. Cancer Res, 2011, 71(3):955-963.
21	Platzbecker U, Germing U, Götze KS, et al. Luspatercept for the treatment of anaemia in patients with lower-risk myelodysplastic syndromes (PACE-MDS):a multicentre, open-label phase 2 dose-finding study with long-term extension study[J]. Lancet Oncol, 2017, 18(10):1338-1347.
22	Kröger N. Treatment of high-risk myelodysplastic syndromes[J]. Haematologica, 2025, 110(2):339-349.
23	Wattel E, De Botton S, Luc Laï J, et al. Long-term follow-up of de novo myelodysplastic syndromes treated with intensive chemotherapy:incidence of long-term survivors and outcome of partial responders[J]. Br J Haematol, 1997, 98(4):983-991.
24	Tentori CA, Gregorio C, Robin M, et al. Clinical and genomic-based decision support system to define the optimal timing of allogeneic hematopoietic stem-cell transplantation in patients with myelodysplastic syndromes[J]. J Clin Oncol, 2024, 42(24):2873-2886.
25	Ramanathan R, Xie Y, Badar T, et al. Contemporary management paradigms and emerging therapeutics for myelodysplastic syndromes/neoplasms[J]. Br J Haematol, 2025, 206(6):1571-1581.
26	DeFilipp Z, Ciurea SO, Cutler C, et al. Hematopoietic cell transplantation in the management of myelodysplastic syndrome:an evidence-based review from the American society for transplantation and cellular therapy committee on practice guidelines[J]. Transplant Cell Ther, 2023, 29(2):71-81.
27	Schetelig J, de Wreede LC, van Gelder M, et al. Late treatment-related mortality versus competing causes of death after allogeneic transplantation for myelodysplastic syndromes and secondary acute myeloid leukemia[J]. Leukemia, 2019, 33(3):686-695.
28	刘子闲, 吕梦楠, 王茜茜, 等. 异基因造血干细胞移植治疗骨髓增生异常综合征的预后因素分析[J]. 中华血液学杂志, 2019, 40(6): 484-489.
29	Sébert M, Thepot S, Cluzeau T, et al. Transplantation in patients with lower-risk MDS:a prospective phase 2 trial based on donor availability[J]. Blood Adv, 2026, 10(2):494-504.
30	Nakamura R, Saber W, Martens MJ, et al. Biologic assignment trial of reduced-intensity hematopoietic cell transplantation based on donor availability in patients 50-75 years of age with advanced myelodysplastic syndrome[J]. J Clin Oncol, 2021, 39(30):3328-3339.
31	Little AM, Akbarzad-Yousefi A, Anand A, et al. BSHI guideline:HLA matching and donor selection for haematopoietic progenitor cell transplantation[J]. Int J Immunogenet, 2021, 48(2):75-109.
32	Timofeeva OA, Philogene MC, Zhang QJ. Current donor selection strategies for allogeneic hematopoietic cell transplantation[J]. Hum Immunol, 2022, 83(10):674-686.
33	Kunacheewa C, Ungprasert P, Phikulsod P, et al. Comparative efficacy and clinical outcomes of haploidentical stem cell transplantation to other stem sources for treatment in acute myeloid leukemia and myelodysplastic syndrome patients:a systematic review and meta-analysis[J]. Cell Transplant, 2020, 29:963689720904965.
34	Raj K, Eikema DJ, Sheth V, et al. Comparison of outcomes for HLA-matched sibling and haplo-identical donors in Myelodysplastic syndromes:report from the chronic malignancies working party of EBMT[J]. Blood Cancer J, 2022, 12(9):140.
35	Kim HT, Ho VT, Nikiforow S, et al. Comparison of older related versus younger unrelated donors for older recipients of allogeneic hematopoietic cell transplantation with acute myeloid leukemia or myelodysplastic syndrome:a large single-center analysis[J]. Transplant Cell Ther, 2024, 30(7):687.e1-687.e13.
36	Arcuri LJ, Ribeiro AAF, Hamerschlak N, et al. Posttransplant cyclophosphamide beyond haploidentical transplantation[J]. Ann Hematol, 2024, 103(5):1483-1491.
37	Mehta RS, Sparapani RA, Kanakry CG, et al. Unrelated donor age and recipient outcomes after posttransplant cyclophosphamide vs conventional prophylaxis[J]. JAMA Oncol, 2025, 12(1):28-37.
38	Gyurkocza B, Sandmaier BM. Conditioning regimens for hematopoietic cell transplantation:one size does not fit all[J]. Blood, 2014, 124(3):344-353.
39	Scott BL, Pasquini MC, Fei M, et al. Myeloablative versus reduced-intensity conditioning for hematopoietic cell transplantation in acute myelogenous leukemia and myelodysplastic syndromes-long-term follow-up of the BMT CTN 0901 clinical trial[J]. Transplant Cell Ther, 2021, 27(6):483.e1-483.e6.
40	Henoun Loukili N, Gras L, Koster L, et al. Conditioning intensity in myelodysplastic patients aged ≥ 50 years undergoing allogeneic hematopoietic cell transplantation (allo-HCT):a study on behalf of the chronic malignancies working party of the EBMT[J]. Bone Marrow Transplant, 2025, 60(11):1487-1495.
41	Lindsley RC, Saber W, Mar BG, et al. Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation[J]. N Engl J Med, 2017, 376(6):536-547.
42	Xuan L, Dai M, Jiang E, et al. The effect of granulocyte-colony stimulating factor, decitabine, and busulfan-cyclophosphamide versus busulfan-cyclophosphamide conditioning on relapse in patients with myelodysplastic syndrome or secondary acute myeloid leukaemia evolving from myelodysplastic syndrome undergoing allogeneic haematopoietic stem-cell transplantation:an open-label, multicentre, randomised, phase 3 trial[J]. Lancet Haematol, 2023, 10(3):e178-e190.
43	Wei Y, Luan S, Wang L, et al. Ruxolitinib and decitabine plus a busulfan-cyclophosphamide conditioning regimen for relapse prophylaxis in patients with high-risk acute myeloid leukemia or myelodysplastic syndromes[J]. Front Immunol, 2025, 16:1586512.
44	Wedge E, Sengeløv H, Hansen JW, et al. Improved outcomes after allogenic hematopoietic stem cell transplantation with fludarabine/treosulfan for patients with myelodysplastic syndromes[J]. Biol Blood Marrow Transplant, 2020, 26(6):1091-1098.
45	Yu S, Zhuang W, Gao S, et al. Impact of decitabine conditioning on allo-HSCT outcomes in AML and intermediate-to-high-risk MDS patients in remission[J]. Cancer Med, 2025, 14(14):e71081.
46	Kolloch L, Berning P, Albring JC, et al. Immune reconstitution in AML and MDS patients undergoing allogeneic hematopoietic cell transplantation (allo-HCT) with treosulfan-or TBI-based conditioning[J]. Bone Marrow Transplant, 2025, 60(11):1533-1536.
47	Albanyan O, Elmariah H, Kalos D, et al. Melphalan dose in combination with fludarabine affects gastrointestinal toxicity and graft-versus-host disease after allogeneic transplantation in acute myeloid leukemia and myelodysplastic syndromes[J]. Transplant Cell Ther, 2024, 30(11):1090.e1-1090.e10.
48	Zugasti I, Lopez-Guerra M, Castaño-Díez S, et al. Hypomethylating agents plus venetoclax for high-risk MDS and CMML as bridge therapy to transplant:a GESMD study[J]. Exp Hematol Oncol, 2025, 14(1):61.
49	Zeidan AM, Borate U, Pollyea DA, et al. A phase 1b study of venetoclax and azacitidine combination in patients with relapsed or refractory myelodysplastic syndromes[J]. Am J Hematol, 2023, 98(2):272-281.
50	Khanam R, Shahzad M, Chaudhary SG, et al. Outcomes after venetoclax with hypomethylating agents in myelodysplastic syndromes:a systematic review and meta-analysis[J]. Leuk Lymphoma, 2022, 63(11):2671-2678.
51	Assouline S. Decitabine plus cedazuridine and venetoclax:the promise of an all-oral therapy for patients with myelodysplastic syndromes and chronic myelomonocytic leukaemia[J]. Lancet Haematol, 2024, 11(3):e170-e171.
52	Schroeder JC, Mix L, Faustmann P, et al. Superior outcome of upfront allogeneic hematopoietic cell transplantation versus hypomethylating agent induction in myelodysplastic syndrome[J]. Bone Marrow Transplant, 2024, 59(9):1332-1334.
53	Vago L. Clonal evolution and immune evasion in posttransplantation relapses[J]. Hematology Am Soc Hematol Educ Program, 2019, 2019(1):610-616.
54	Yerushalmi Y, Shem-Tov N, Danylesko I, et al. Second hematopoietic stem cell transplantation as salvage therapy for relapsed acute myeloid leukemia/myelodysplastic syndromes after a first transplantation[J]. Haematologica, 2023, 108(7):1782-1792.
55	Guillaume T, Thépot S, Peterlin P, et al. Prophylactic or preemptive low-dose azacitidine and donor lymphocyte infusion to prevent disease relapse following allogeneic transplantation in patients with high-risk acute myelogenous leukemia or myelodysplastic syndrome[J]. Transplant Cell Ther, 2021, 27(10):839.e1-839.e6.
56	Tong X, Li M, Jin J, et al. Cladribine-and decitabine-containing conditioning regimen has a low post-transplant relapse rate in patients with relapsed or refractory acute myeloid leukemia and high-risk myelodysplastic syndrome[J]. Int J Cancer, 2023, 152(10):2123-2133.
57	Wei Y, Wang L, Zhu C, et al. A phase II study of chidamide, cytarabine, aclarubicin, granulocyte colony-stimulating factor, and donor lymphocyte infusion for relapsed acute myeloid leukemia and myelodysplastic syndrome after allogeneic hematopoietic stem cell transplantation[J]. Med Oncol, 2023, 40(2):77.
58	Chiusolo P, Malagola M, Giglio F, et al. Venetoclax plus hypomethylating agents as first salvage therapy for myeloid malignancies relapsing after allogeneic HSCT[J]. Bone Marrow Transplant, 2026, 61(1):101-103.
59	Parks K, Diebold K, Salzman D, et al. Low-dose decitabine plus venetoclax as post-transplant maintenance for high-risk myeloid malignancies[J]. EJHaem, 2024, 5(3):560-564.
60	Santini V, Stahl M, Sallman DA. TP53 mutations in acute leukemias and myelodysplastic syndromes:insights and treatment updates[J]. Am Soc Clin Oncol Educ Book, 2024, 44(3):e432650.
61	DeFilipp Z, Chen YB. How I treat with maintenance therapy after allogeneic HCT[J]. Blood, 2023, 141(1):39-48.

方案类型	具体方案	主要药物组成	适用人群	分子风险	优势与劣势
MAC	BuCy^[39]	白消安+环磷酰胺	< 60岁HCT-CI低	高危/极高危（尤其RAS突变）	优势：抗肿瘤活性强，复发率低；劣势：TRM/NRM高
	TBI-Based^[46]	全身照射+环磷酰胺/依托泊苷	< 60岁HCT-CI低	需髓外控制者	优势：抗肿瘤活性强，髓外病变控制佳；劣势：毒性反应明显，远期继发肿瘤
RIC	Flu/Bu^[39]	氟达拉滨+减低剂量白消安	≥ 60岁HCT-CI中-高	中危	优势：扩大移植适应人群，NRM低；劣势：复发率高
	Flu/Mel^[47]	氟达拉滨+马法兰	≥60岁	中危	优势：植入稳定，抗肿瘤活性强，复发率低；劣势：胃肠道毒性、急性GVHD发生率高，毒性风险大
新型方案	Flu/Treo^[44]	氟达拉滨+曲奥舒凡	任何年龄（尤其≥60岁）	中-高危	优势：疗效与MAC相当，耐受性佳，NRM低；劣势：需更多长期随访数据
	含HMA方案^[45]	地西他滨/阿扎胞苷+MAC/RIC	任何年龄	极高危（TP53突变）	优势：表观遗传调控，增强去甲基化与抗肿瘤活性，可能克服不良预后；劣势：最佳剂量与联合方案待优化

方案类型	具体方案	主要药物组成	适用人群	分子风险	优势与劣势
MAC	BuCy^[39]	白消安+环磷酰胺	< 60岁HCT-CI低	高危/极高危（尤其RAS突变）	优势：抗肿瘤活性强，复发率低；劣势：TRM/NRM高
	TBI-Based^[46]	全身照射+环磷酰胺/依托泊苷	< 60岁HCT-CI低	需髓外控制者	优势：抗肿瘤活性强，髓外病变控制佳；劣势：毒性反应明显，远期继发肿瘤
RIC	Flu/Bu^[39]	氟达拉滨+减低剂量白消安	≥ 60岁HCT-CI中-高	中危	优势：扩大移植适应人群，NRM低；劣势：复发率高
	Flu/Mel^[47]	氟达拉滨+马法兰	≥60岁	中危	优势：植入稳定，抗肿瘤活性强，复发率低；劣势：胃肠道毒性、急性GVHD发生率高，毒性风险大
新型方案	Flu/Treo^[44]	氟达拉滨+曲奥舒凡	任何年龄（尤其≥60岁）	中-高危	优势：疗效与MAC相当，耐受性佳，NRM低；劣势：需更多长期随访数据
	含HMA方案^[45]	地西他滨/阿扎胞苷+MAC/RIC	任何年龄	极高危（TP53突变）	优势：表观遗传调控，增强去甲基化与抗肿瘤活性，可能克服不良预后；劣势：最佳剂量与联合方案待优化

[1]	Wenjun Ling, Lingjun Wan, Yan Zhang. Effect of hematopoietic stem cell transplantation on acute leukemia and factors influencing its recurrence [J]. Chinese Journal of Critical Care Medicine(Electronic Edition), 2025, 18(01): 18-24.
[2]	Xiaowei Zhao, Guoyu Ding, Yanli Leng, Hongmei Wang. Current research status of pulmonary function assessment after hematopoietic stem cell transplantation in children [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2025, 21(06): 611-619.
[3]	Lizhen Xu, Xianbo Huang, Fengwei Du. Refractory diarrhea after allogeneic hematopoietic stem cell transplantation: a report of three cases and literature review [J]. Chinese Journal of Transplantation(Electronic Edition), 2026, 20(02): 123-126.
[4]	National Clinical Research Center for Infectious Diseases, National Medical Center for Infectious Diseases, Yangtze River Delta Collaborative Group for Diagnosis and Treatment of Vulnerable Population with HIV/AIDS, AIDS Group, Society of Tropical Diseases and Parasitology, Zhejiang Medical Association. Expert consensus on autologous hematopoietic stem cell transplantation for adult patients with human immunodeficiency virus infection complicated by lymphoma (2026 version) [J]. Chinese Journal of Transplantation(Electronic Edition), 2026, 20(01): 38-45.
[5]	Hongjuan Tian, Rui Xi, Heng Liu, Dongfeng Mao, Tao Wu. Allogeneic hematopoietic stem cell transplantation for aplastic anemia with monoclonal gammopathy: a case report [J]. Chinese Journal of Transplantation(Electronic Edition), 2025, 19(04): 264-267.
[6]	Heng Liu, Tao Wu, Lingling Yu, Rui Xi, Yaozhu Pan, Dongfeng Mao, Yajun Shi, Wenhui Liu, Hongjuan Tian, Ying Wang, Xiaofei Zhang, Xi Zhang. Analysis of specific serum biomarkers associated with acute graft versus host disease [J]. Chinese Journal of Transplantation(Electronic Edition), 2025, 19(04): 237-242.
[7]	Xianli Qiao, Xiangyang Tian, Wenya Zhou, Zemin Qin, Shanshan Guo, Junyan Yu. Significance of circulating tumor DNA in predicting postoperative recurrence risk of non-small cell lung cancer [J]. Chinese Journal of Lung Diseases(Electronic Edition), 2025, 18(03): 395-400.
[8]	Zhuoxi Wu, Shengjin Fan. Research progress in poor graft function after allogeneic hematopoietic stem cell transplantation [J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2026, 16(02): 102-109.
[9]	Xuezhen Zheng, Guanzhi Lei, Xiaoyue Zhang, Yifan Jiang, Zhaopeng Wang, Dandan Wang, Yueying Zhang, Fang Zhou, Zhicheng Wu. Study on the mouse model of acute graft-versus-host disease after MHC-mismatched and H-2 haploidentical hematopoietic stem cell transplantation [J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2025, 15(06): 329-338.
[10]	Heng Liu, Tao Wu, Yaozhu Pan, Hai Bai, Dongfeng Mao, Hongjuan Tian, Yajun Shi, Rui Xi. Efficacy and safety of CBA-based conditioning regimen for allogeneic hematopoietic stem cell transplantation in patients with acute myeloid leukemia and myelodysplastic syndrome [J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2025, 15(05): 283-289.
[11]	Jinglong Peng, Xiaoyue Zhang, Hongmei Wang. Recent advances in umbilical cord mesenchymal stem cell therapy for premature ovarian failure following hematopoietic stem cell transplantation [J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2025, 15(04): 245-250.
[12]	Xintong Li, Yanhua Zheng, Ruilin Ren, Min Xu, Chunxiao He, Xuemei Wen, Nainong Li, Xiaofan Li. Clinical efficacy of polymyxin B in the treatment of severe infection after hematopoietic stem cell transplantation [J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2025, 15(01): 51-56.
[13]	of Organ Transplant of China Medical Association Branch, of Organ Transplant Physicians of Chinese Medical Doctor Association Branch. Chinese expert consensus on the diagnosis and treatment of acute graft-versus-host disease after liver transplantation (2024 edition) [J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2025, 14(01): 1-12.
[14]	Zengzhu He, Hui Chen. Sulbactam-Durlobactam for post-hematopoietic stem cell transplantation carbapenem-resistant Acinetobacter baumannii infection [J]. Chinese Journal of Critical Care & Intensive Care Medicine(Electronic Edition), 2025, 11(03): 323-328.
[15]	Xuexing Wang, Kai Sun, Xingxing Tang, Guozhong Zhou. Establishing and implementing a closed-loop management system for monitoring and intervening in minimal residual disease in solid tumors driven by liquid biopsy [J]. Chinese Journal of Diagnostics(Electronic Edition), 2025, 13(04): 236-241.

Please choose a citation manager

Content to export