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中华细胞与干细胞杂志(电子版) ›› 2026, Vol. 16 ›› Issue (05) : 292 -297. doi: 10.3877/cma.j.issn.2095-1221.2026.05.005

综述

造血干细胞移植在骨髓增生异常综合征治疗中的研究进展
姚雪, 曹佩琪, 杨林花†()   
  1. 030001 太原,山西医科大学第二医院血液科
  • 收稿日期:2026-01-15 出版日期:2026-10-01
  • 通信作者: 杨林花

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

Xue Yao, Peiqi Cao, Linhua Yang†()   

  1. Hematology Department of the Second Hospital of Shanxi Medical University, Taiyuan 030001, China
  • Received:2026-01-15 Published:2026-10-01
  • Corresponding author: Linhua Yang
引用本文:

姚雪, 曹佩琪, 杨林花. 造血干细胞移植在骨髓增生异常综合征治疗中的研究进展[J/OL]. 中华细胞与干细胞杂志(电子版), 2026, 16(05): 292-297.

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

骨髓增生异常综合征(MDS)是一类起源于造血干细胞的克隆性髓系疾病,具有高度异质性和潜在侵袭性。治疗方案选择主要取决于患者风险类别和治疗紧迫性,目前造血干细胞移植(HSCT)是唯一可能治愈MDS的方法。本文系统综述MDS的发病机制与移植预后关联、临床治疗策略以及HSCT治疗MDS的研究进展,重点探讨去甲基化药物联合维奈克拉(HMA+VEN)在移植前桥接治疗中的争议与优势、移植后环磷酰胺(PTCy)对移植物抗宿主病(GVHD)预防策略的革新、新型预处理方案的精准选择,以及移植后复发防治与微小残留病灶(MRD)监测管理的最新策略,旨在为MDS患者的个体化治疗提供参考。

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.

表1 MDS患者allo-HSCT常用预处理方案对比
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.
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