The Journal of Practical Medicine >

2023 , Vol. 39 >Issue 23: 3087 - 3092

DOI: https://doi.org/10.3969/j.issn.1006-5725.2023.23.011

Clinical Research

Curative effect analysis of transplantation in patients with myelodysplastic syndrome with ASXL1 gene mutation

  • Yupei ZHANG ,
  • Xinsheng XIE ,
  • Yajie SHI ,
  • Weijie CAO ,
  • Rong GUO ,
  • Dingming. WAN
Expand
  • Department of Hematology，the First Affiliated Hospital of Zhengzhou University，Zhengzhou 450000，China

Received date: 2023-07-12

  Online published: 2024-01-08

Fold

Abstract

Objective To investigate the efficacy and influencing factors of allo?HSCT in the treatment of MDS patients with ASXL1+. Methods The second?generation sequencing technique was used to detect 22 gene mutations in 247 newly diagnosed MDS patients in our hospital. The patients were divided into chemotherapy group and transplant group according to treatment style. The differences of OS and PFS between the two groups were compared， and the influencing factors of prognosis of transplant patients were analyzed. Results ASXL1+ was detected in 75 patients （30.36%）， with a median mutation ratio of 42.93 （18.10，58.39）%， 10 received supportive treatment， 43 received demethylation therapy or demethylation combined with pre?excitation therapy， and 22 received allo?HSCT. 2?year PFS rate and OS rate of transplantation group were significantly higher than that of chemotherapy group （P < 0.05）. The 2?year OS rate in the low ASXL1 mutation load group （VAF ≤ 42.93%） was significantly higher than that in the high ASXL1 mutation load group （VAF > 42.93%） （P < 0.05）. In the context of allo?HSCT in patients with ASXL1+， 2?year OS and PFS rates were significantly reduced in patients with RUNX1+ or ASXL1+ （P < 0.05）； Multivariate analysis showed that high mutation load of ASXL1 or U2AF1+ were independent risk factors for OS in transplant patient （P < 0.05）. U2AF1+ were the risk factors for PFS （P < 0.05）. Conclusion allo?HSCT significantly improved the prognosis of patients with ASXL1+ MDS. High ASXL1 mutation load or U2AF1+ were independent risk factors affecting the outcome of allo?HSCT.

Key words： myelodysplastic syndrome; allogeneic hematopoietic stem cell transplantation; ASXL1

Cite this article

Yupei ZHANG , Xinsheng XIE , Yajie SHI , Weijie CAO , Rong GUO , Dingming. WAN . Curative effect analysis of transplantation in patients with myelodysplastic syndrome with ASXL1 gene mutation[J]. The Journal of Practical Medicine, 2023 , 39(23) : 3087 -3092 . DOI: 10.3969/j.issn.1006-5725.2023.23.011

References

1 LI H， HU F， GALE R， et al. Myelodysplastic syndromes ［J］. Nat Rev Dis Primers， 2022， 8（1）： 74.
2 KIM Y， JUNG S， HUR E， et al. Clinical implications of copy number alteration detection using panel-based next-generation sequencing data in myelodysplastic syndrome ［J］. Leuk Res， 2021， 103： 106540.
3 NACHTKAMP K， KOBBE G， GATTERMANN N， et al. Myelodysplastic Syndromes： New Methods of Diagnosis， Prognostication， and Treatment ［J］. Dtsch Arztebl Int， 2023， 120（12）： 203-210.
4 CHEN T， HOU H， CHOU W， et al. Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome ［J］. Blood Cancer J， 2014， 4（1）： e177.
5 NAZHA A， KOMROKJI R， MEGGENDORFER M， et al. Personalized Prediction Model to Risk Stratify Patients With Myelodysplastic Syndromes ［J］. J Clin Oncol， 2021， 39（33）： 3737-3746.
6 HELLSTR?M-LINDBERG E， TOBIASSON M， GREENBERG P. Myelodysplastic syndromes： moving towards personalized management ［J］. Haematologica， 2020， 105（7）： 1765-1779.
7 中华医学会血液学分会. 骨髓增生异常综合征中国诊断与治疗指南（2019年版） ［J］. 中华血液学杂志， 2019， 40（2）： 89-97.
8 ARBER D， ORAZI A， HASSERJIAN R， et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia ［J］. Blood， 2016， 127（20）： 2391-2405.
9 SAUTA E， ROBIN M， BERSANELLI M， et al. Real-World Validation of Molecular International Prognostic Scoring System for Myelodysplastic Syndromes ［J］. J Clin Oncol，2023， 41（15）： 2827-2842.
10 GARCIA-MANERO G. Myelodysplastic syndromes： 2023 update on diagnosis， risk-stratification， and management ［J］. Am J Hematol， 2023， 98（8）： 1307-1325.
11 FISHER C， PINEAULT N， BROOKES C， et al. Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia ［J］. Blood， 2010， 115（1）： 38-46.
12 BAI J， CHEN Z， CHEN C， et al. Reducing hyperactivated BAP1 attenuates mutant ASXL1-driven myeloid malignancies in human haematopoietic cells ［J］. Cancer Lett， 2021， 519： 78-90.
13 YANG F， AGOSTO-PE?A J. Epigenetic regulation by ASXL1 in myeloid malignancies ［J］. Int J Hematol，2023， 117（6）： 791-806.
14 XIA Y， ZENG Y， ZHANG M， et al. Tumor-derived neomorphic mutations in ASXL1 impairs the BAP1-ASXL1-FOXK1/K2 transcription network ［J］. Protein Cell， 2021， 12（7）： 557-577.
15 KITAMURA T. ASXL1 mutations gain a function ［J］. Blood， 2018， 131（3）： 274-275.
16 黄龄乐， 王利. ASXL1突变促进高危MDS患者疾病进展的机制及潜在治疗靶点 ［J］. 重庆医学， 2023， 52（8）： 1242-1247.
17 PRATCORONA M， ABBAS S， SANDERS M， et al. Acquired mutations in ASXL1 in acute myeloid leukemia： prevalence and prognostic value ［J］. Haematologica， 2012， 97（3）： 388-392.
18 HAFERLACH T， NAGATA Y， GROSSMANN V， et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes ［J］. Leukemia， 2014， 28（2）： 241-247.
19 B?NESCU C， TRIPON F， MUNTEAN C. The Genetic Landscape of Myelodysplastic Neoplasm Progression to Acute Myeloid Leukemia ［J］. Int J Mol Sci， 2023， 24（6）：5734.
20 SPAULDING T， STOCKTON S， SAVONA M. The evolving role of next generation sequencing in myelodysplastic syndromes ［J］. Br J Haematol， 2020， 188（2）： 224-239.
Options
Outlines

/

〈 〉