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中华细胞与干细胞杂志(电子版) ›› 2024, Vol. 14 ›› Issue (02) : 90 -92. doi: 10.3877/cma.j.issn.2095-1221.2024.02.004

病例报告

异基因造血干细胞移植治疗CSF3R基因突变急性髓系白血病M2型1例并文献复习
刘洋1, 吴涛1,(), 刘恒1, 刘文慧1, 田红娟1, 周芮1, 高铭敏1, 王向丽1, 张睿1   
  1. 1. 730050 兰州,中国人民解放军联勤保障部队第九四〇医院全军血液病中心
  • 收稿日期:2024-01-29 出版日期:2024-04-01
  • 通信作者: 吴涛
  • 基金资助:
    甘肃省创新基地和人才计划(21JR7RA015)
  • Received:2024-01-29 Published:2024-04-01
引用本文:

刘洋, 吴涛, 刘恒, 刘文慧, 田红娟, 周芮, 高铭敏, 王向丽, 张睿. 异基因造血干细胞移植治疗CSF3R基因突变急性髓系白血病M2型1例并文献复习[J]. 中华细胞与干细胞杂志(电子版), 2024, 14(02): 90-92.

急性髓系白血病(acute myelocytic leukemia,AML)是髓系造血干/祖细胞恶性疾病,以骨髓与外周血中原始和幼稚髓性细胞异常增生为主要特征。尽管涉及集落刺激因子3受体(colony-stimulating factor-3 receptor gene,CSF3R)突变以及t (8;21) (q22;q22)的问题已有大量研究。然而,关于CSF3R,t (8;21) (q22;q22)更为详尽的致病机制,以及CSF3R与t (8;21) (q22;q22)之间是否有联系至今尚无定论。近期中国人民解放军联勤保障部队第九四〇医院血液科收治了1例t (8;21) (q22;q22)伴CSF3R突变急性髓系白血病患者。现报道如下。

1
Arber DA, 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.
2
中华医学会血液学分会白血病淋巴瘤学组. 中国成人急性髓系白血病(非急性早幼粒细胞白血病)诊疗指南(2021年版)[J]. 中华血液学杂志, 2021, (8):617-623.
3
Maxson JE, Gotlib J, Pollyea DA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML[J]. N Engl J Med, 2013, 368(19):1781-1790.
4
Beekman R, Valkhof MG, Sanders MA, et al. Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia[J]. Blood, 2012, 119(22):5071-5077.
5
Mehta HM, Glaubach T, Long A, et al. Granulocyte colony-stimulating factor receptor T595I (T618I) mutation confers ligand independence and enhanced signaling[J]. Leukemia, 2013, 27(12):2407-2710.
6
Bulleeraz V, Goy M, Basheer F, et al. Leukemia-associated truncation of granulocyte colony-stimulating factor receptor impacts granulopoiesis throughout the life-course[J]. Front Immunol, 2022, 13:1095453. doi: 10.3389/fimmu.2022.1095453.
7
Olofsen PA, Bosch DA, de Looper HWJ, et al. Truncated CSF3 receptors induce pro-inflammatory responses in severe congenital neutropenia[J]. Br J Haematol, 2023, 200(1):79-86.
8
Dannenmann B, Klimiankou M, Oswald B, et al. iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia[J]. Cell stem cell, 2023, 30(9):1282. doi: 10.1016/j.stem.2023.07.015.
9
Klimiankou M, Mellor-Heineke S, Klimenkova O, et al. Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML[J]. Blood, 2016, 127(21):2638-2641.
10
Chen X, Xu J, Fang F, et al. The clinical characteristics and prognosis of Chinese acute myeloid leukemia patients with CSF3R mutations[J]. Int J Lab Hematol, 2022, 44(2):364-370.
11
Zhang X, Huang A, Liu L, et al. The clinical impact of IKZF1 mutation in acute myeloid leukemia[J]. Exp Hematol Oncol, 2023, 12(1):33. doi: 10.1186/s40164-023-00398-y.
12
Lance A, Druhan LJ, Vestal CG, et al. Altered expression of CSF3R splice variants impacts signal response and is associated with SRSF2 mutations[J]. Leukemia, 2020, 34(2):369-379.
13
Rowley JD. Identificaton of a translocation with quinacrine fluorescence in a patient with acute leukemia[J]. Ann Genet, 1973, 16(2):109-112.
14
Miyoshi H, Shimizu K, Kozu T, et al. t (8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1[J]. Proc Natl Acad Sci U S A, 1991, 88(23):10431-10434.
15
Li XP, Dai Y, Zhang WN, et al. Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1[J]. Int Immunopharmacol, 2023, 125(Pt B):111178. doi: 10.1016/j.intimp.2023.111178.
16
潘湘涛, 李建勇, 夏学鸣,等. t (8;21)急性髓系白血病的免疫表型特点[J]. 中华血液学杂志, 2001, (6):313-315.
17
Jiao B, Wu CF, Liang Y, et al. AML1-ETO9a is correlated with C-KIT overexpression/mutations and indicates poor disease outcome in t (8;21) acute myeloid leukemia-M2[J]. Leukemia, 2009, 23(9):1598-1604.
18
Zhang Y, Wu Q, Yuan B, et al. Influence on therapeutic outcome of platelet count at diagnosis in patients with de novo non-APL acute myeloid leukemia[J]. BMC cancer, 2023, 23(1):1030. doi: 10.1186/s12885-023-11543-5.
19
Chen CC, Gau JP, Yu YB, et al. Prognosis and treatment outcome in patients with acute myeloid leukemia with t (8;21) (q22;q22)[J]. Adv Ther, 2007, 24(4):907-920.
20
Zhou W, Li S, Wang H, et al. A novel AML1-ETO/FTO positive feedback loop promotes leukemogenesis and Ara-C resistance via stabilizing IGFBP2 in t (8;21) acute myeloid leukemia[J]. Exp Hematol Oncol, 2024, 13(1):9. doi: 10.1186/s40164-024-00480-z.
21
Zhou W, Chen G, Gong D, et al. Risk factors for post-transplant relapse and survival in younger adult patients with t (8;21) (q22;q22) acute myeloid leukemia undergoing allogeneic hematopoietic stem cell transplantation: a multicenter retrospective study[J]. Front Oncol, 2023, 13:1138853. doi: 10.3389/fonc.2023.1138853.
22
Wang Y, Wu DP, Liu QF, et al. In adults with t(8;21)AML, posttransplant RUNX1/RUNX1T1-based MRD monitoring, rather than c-KIT mutations, allows further risk stratification[J]. Blood, 2014, 124(12):1880-1886.
23
Hu GH, Cheng YF, Lu AD, et al. Allogeneic hematopoietic stem cell transplantation can improve the prognosis of high-risk pediatric t (8;21) acute myeloid leukemia in first remission based on MRD-guided treatment[J]. BMC cancer, 2020, 20(1):553. doi: 10.1186/s12885-020-07043-5.
24
Li X, Dai Y, Chen B, et al. Clinical significance of CD34(+)CD117(dim)/CD34(+)CD117(bri) myeloblast-associated gene expression in t (8;21) acute myeloid leukemia[J]. Front Med, 2021, 15(4):608-620.
25
Jiang L, Li XP, Dai YT, et al. Multidimensional study of the heterogeneity of leukemia cells in t (8;21) acute myelogenous leukemia identifies the subtype with poor outcome[J]. Proc Natl Acad Sci U S A, 2020, 117(33):20117-20126.
26
Sano H, Ohki K, Park MJ, et al. CSF3R and CALR mutations in paediatric myeloid disorders and the association of CSF3R mutations with translocations, including t (8; 21)[J]. Br J Haematol, 2015, 170(3):391-397.
27
Higuchi M, O'Brien D, Kumaravelu P, et al. Expression of a conditional AML1-ETO oncogene bypasses embryonic lethality and establishes a murine model of human t (8;21) acute myeloid leukemia[J]. Cancer cell, 2002, 1(1):63-74.
28
Rhoades KL, Hetherington CJ, Harakawa N, et al. Analysis of the role of AML1-ETO in leukemogenesis, using an inducible transgenic mouse model[J]. Blood, 2000, 96(6):2108-2115.
29
Alcalay M, Meani N, Gelmetti V, et al. Acute myeloid leukemia fusion proteins deregulate genes involved in stem cell maintenance and DNA repair[J]. J Clin Invest, 2003, 112(11):1751-1761.
30
Swoboda AS, Arfelli VC, Danese A, et al. CSF3R T618I Collaborates With RUNX1-RUNX1T1 to Expand Hematopoietic Progenitors and Sensitizes to GLI Inhibition[J]. HemaSphere, 2023, 7(10):e958. doi: 10.1097/HS9.0000000000000958.
31
Wang B, Wen L, Wang Z, et al. Differential Implications of CSF3R Mutations in t (8;21) and CEBPA Double Mutated Acute Myeloid Leukemia[J]. Clin Lymphoma Myeloma Leuk, 2022, 22(6):393-404.
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