切换至 "中华医学电子期刊资源库"

中华移植杂志(电子版) ›› 2024, Vol. 18 ›› Issue (04) : 230 -234. doi: 10.3877/cma.j.issn.1674-3903.2024.04.005

经验交流

造血干细胞移植治疗伴有胚系突变的髓系肿瘤患者三例并文献复习
刘云, 时月, 郭冬梅, 邱志远, 王丽娟, 冉学红, 李乾鹏()   
  1. 261000 潍坊市人民医院血液病医学中心
    261000 潍坊,山东第二医科大学(临床医学院)
    266035 青岛,山东大学齐鲁医院(青岛)血液科
  • 收稿日期:2024-04-04 出版日期:2024-08-08
  • 通信作者: 李乾鹏
  • 基金资助:
    山东省自然科学基金青年项目(ZR2022QH142)山东省医药卫生科技发展计划项目(202203040348)

Treatment of myeloid neoplasm with germline mutation by hematopoietic stem cell transplantation:three cases and literature review

Yun Liu, Yue Shi, Dongmei Guo, Zhiyuan Qiu, Lijuan Wang, Xuehong Ran, Qianpeng Li()   

  1. Department of Hematology, Weifang People′s Hospital,
    Weifang 261000, China
    Shandong Second Medical University (School of Clinical Medicine), Weifang 261000, China;
    Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao 266035, China
  • Received:2024-04-04 Published:2024-08-08
  • Corresponding author: Qianpeng Li
引用本文:

刘云, 时月, 郭冬梅, 邱志远, 王丽娟, 冉学红, 李乾鹏. 造血干细胞移植治疗伴有胚系突变的髓系肿瘤患者三例并文献复习[J]. 中华移植杂志(电子版), 2024, 18(04): 230-234.

Yun Liu, Yue Shi, Dongmei Guo, Zhiyuan Qiu, Lijuan Wang, Xuehong Ran, Qianpeng Li. Treatment of myeloid neoplasm with germline mutation by hematopoietic stem cell transplantation:three cases and literature review[J]. Chinese Journal of Transplantation(Electronic Edition), 2024, 18(04): 230-234.

1
Rio-Machin A, Vulliamy T, Hug N, et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants[J]. Nat Commun, 2020, 11(1): 1044.
2
Adamo A, Chin P, Keane P, et al. Identification and interrogation of the gene regulatory network of CEBPA-double mutant acute myeloid leukemia[J]. Leukemia, 2023, 37(1):102-112.
3
Taube F, Georgi JA, Kramer M, et al. CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome[J]. Blood, 2022, 139(1): 87-103.
4
Kim HS, Han E, Jang W, et al. Germline CEBPA mutations in Korean patients with acute myeloid leukemia[J]. Leuk Res,2019,76:84-86.
5
Boada M, Catalán AI, Ottati C, et al. Germline CEBPA mutation in familial acute myeloid leukemia[J]. Hematol Rep, 2021, 13(3):9114.
6
Yokota A, Huo L, Lan F, et al. The clinical, molecular, and mechanistic basis of RUNX1 mutations identified in hematological malignancies[J]. Mol Cells, 2020, 43(2): 145-152.
7
DiFilippo EC, Coltro G, Carr RM, et al. Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms[J]. Leukemia, 2020, 34(9): 2519-2524.
8
Daver N, Schlenk RF, Russell NH, et al. Targeting FLT3 mutations in AML: review of current knowledge and evidence[J]. Leukemia,2019, 33(2): 299-312.
9
Scholl S, Fleischmann M, Schnetzke U, et al. Molecular mechanisms of resistance to FLT3 inhibitors in acute myeloid leukemia: ongoing challenges and future treatments [J]. Cells,2020, 9(11): 2493.
10
Sanchez-Martin M, Ferrando A. The NOTCH1-MYC highway toward T-cell acute lymphoblastic leukemia[J]. Blood, 2017, 129(9):1124-1133.
11
Jelloul FZ, Yang R, Garces S, et al. Landscape of NOTCH1 mutationsand co-occurringbiomarkeralterations inchronic lymphocytic leukemia[J]. Leuk Res, 2022, 116:106827.
12
Zhang XH, Chen J, Han MZ, et al. The consensus from the Chinese Society of Hematology on indications, conditioning regimens and donor selection for allogeneic hematopoietic stem cell transplantation:2021 update[J]. J Hematol Oncol, 2021, 14(1): 145.
13
Toya T, Harada H, Harada Y, et al. Adult-onset hereditary myeloid malignancy and allogeneic stem cell transplantation[J]. Front Oncol,2022, 12:997530.
14
Ng CWS, Kosmo B, Lee PL, et al. CEBPA mutational analysis in acute myeloid leukaemia by a laboratory-developed next-generation sequencing assay[J]. J Clin Pathol, 2018, 71(6): 522-531.
15
Bullinger L. CEBPA mutations in AML: site matters[J]. Blood,2022, 139(1): 6-7.
16
Pabst T, Eyholzer M, Haefliger S, et al. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia[J]. J Clin Oncol,2008, 26(31): 5088-5093.
17
Brown AL, Hahn CN, Scott HS. Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)[J].Blood, 2020, 136(1): 24-35.
18
Lyman SD, Brasel K, Rousseau AM, et al. The flt3 ligand: a hematopoietic stem cell factor whose activities are distinct from steel factor[J]. Stem Cells, 1994, 12 (Suppl 1): S99-S107; discussion 8-10.
19
Singh N, Morlote D, Vnencak-Jones C, et al. Acute myeloid leukemia case harboring unusual FLT3 variant: somatic vs germline?[J]. Lab Med, 2021, 52(3): e53-e56.
20
Xiao H, Shi J, Luo Y, et al. First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation[J]. Blood, 2011,117(19): 5257-5260.
21
Schlegelberger B, Heller PG. RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM) [J].Semin Hematol, 2017, 54(2): 75-80.
22
Antony-Debré I, Manchev VT, Balayn N, et al. Level of RUNX1 activity is criticalfor leukemicpredisposition but notfor thrombocytopenia[J]. Blood, 2015, 125(6): 930-940.
23
Michaud J, Wu F, Osato M, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis[J]. Blood, 2002, 99(4): 1364-1372.
24
张然然, 陈晓娟, 任媛媛, 等. 家族性血小板疾病并急性髓系白血病倾向一例报告并文献复习[J]. 中华血液学杂志, 2021,42(4): 308-312.
25
Antony-Debré I, Duployez N, Bucci M, et al. Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia[J]. Leukemia, 2016, 30(4): 999-1002.
26
Yoshimi A, Toya T, Kawazu M, et al. Recurrent CDC25C mutations drive malignant transformation in FPD/AML[J]. Nat Commun,2014, 5:4770.
27
Lachowiez C, Bannon S, Loghavi S, et al. Clonal evolution and treatment outcomes in hematopoietic neoplasms arising in patients with germline RUNX1 mutations[J]. Am J Hematol, 2020, 95(11):E313-E315.
28
Nickels EM, Soodalter J, Churpek JE, et al. Recognizing familial myeloid leukemia in adults[J]. Ther Adv Hematol, 2013, 4(4):254-269.
29
Churpek JE, Pyrtel K, Kanchi KL, et al. Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia[J]. Blood, 2015, 126(22): 2484-2490.
30
Makishima H, Jankowska AM, McDevitt MA, et al. CBL, CBLB,TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia[J]. Blood, 2011, 117(21): e198-e206.
31
孙超, 张苏江, 李建勇. 异柠檬酸脱氢酶(IDH)基因突变与急性髓系白血病关系的研究进展[J]. 中华血液学杂志, 2013,34(3)273-275.
32
Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms[J]. N Engl J Med, 2010, 362(4): 369-370.
33
Yin X, Zhou M, Zhang L, et al. Histone chaperone ASF1A accelerates chronic myeloid leukemia blast crisis by activating Notch signaling[J]. Cell Death Dis, 2022, 13(10): 842.
34
Herranz D, Ambesi-Impiombato A, Palomero T, et al. A NOTCH1-driven MYC enhancer promotes T cell development, transformation and acute lymphoblastic leukemia[J]. Nat Med, 2014, 20(10):1130-1137.
35
Dirse V, Norvilas R, Gineikiene E, et al. ETV6 and NOTCH1 germline variants in adult acute leukemia[J]. Leuk Lymphoma,2018, 59(4): 1022-1024.
36
Kongkiatkamon S, Niparuck P, Rattanathammethee T, et al.Prevalence and clinical outcomes of germline variants among patients with myeloid neoplasms [J]. J Clin Pathol, 2024, jcp-2023-209264. [Online ahead of print]
37
Yu K, Deuitch N, Merguerian M, et al. Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy[J]. Blood Adv, 2024, 8(2):497-511.
38
Forster A, Decker M, Schlegelberger B, et al. Beyond pathogenic RUNX1 germline variants: the spectrum of somatic alterations in RUNX1-familial platelet disorder with predisposition to hematologic malignancies[J]. Cancers (Basel), 2022, 14(14):3431.
39
Lahtinen AK, Koski J, Ritari J, et al. Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients[J]. Bone Marrow Transplant, 2023, 58(1):39-45.
40
Williams LS, Williams KM, Gillis N, et al. Donor-derived malignancy and transplantation morbidity: risks of patient and donor genetics in allogeneic hematopoietic stem cell transplantation[J].Transplant Cell Ther, 2024, 30(3):255-267.
41
Auer PL, Farazi M, Zhang T, et al. Donor germ-line variants associate with outcomes of allogeneic hematopoietic stem cell transplantation in patients with myelodysplastic syndromes[J]. Am J Hematol, 2024, 99(4):770-773.
42
Crysandt M, Brings K, Beier F, et al. Germ line predisposition to myeloid malignancies appearing in adulthood [ J]. Expert Rev Hematol, 2018, 11(8):625-636.
[1] 何甘霖, 陈香侬, 李萍, 甄佳怡, 李京霞, 邹外一, 许多荣. 白血病异基因造血干细胞移植术后股骨坏死的影响因素[J]. 中华关节外科杂志(电子版), 2024, 18(04): 450-456.
[2] 陈帅, 刘文宾, 吴迪炯, 俞庆宏, 陈均法, 庄海峰, 胡致平, 武利强, 郑智茵, 沈建平, 叶宝东. 改良FAC预处理方案在不同供者类型行异基因造血干细胞移植治疗再生障碍性贫血中的疗效分析[J]. 中华危重症医学杂志(电子版), 2022, 15(04): 296-299.
[3] 朴美英, 刘娜, 孟繁峥, 李春艳. 支气管镜诊断儿童造血干细胞移植后闭塞性细支气管炎综合征二例[J]. 中华移植杂志(电子版), 2024, 18(02): 116-119.
[4] 刘麾, 赵鹏, 冯静, 胡晓彦, 杜涛, 王凌云. 三维调强放射治疗对急性髓系白血病异基因造血干细胞移植后髓外复发的疗效观察[J]. 中华移植杂志(电子版), 2024, 18(02): 110-115.
[5] 李赞, 许芝彬, 冯志金, 张雄. 重型β-地中海贫血患儿异基因造血干细胞移植后淋巴细胞亚群动态分析[J]. 中华移植杂志(电子版), 2024, 18(01): 22-29.
[6] 孔欣, 宋宝全, 刘吟, 张剑, 仇惠英, 吴德沛. 异基因造血干细胞移植并发难治性呃逆一例[J]. 中华移植杂志(电子版), 2023, 17(04): 253-255.
[7] 赵爽, 马梁明, 朱秋娟, 贡蓉, 高志林, 田卫伟, 王涛. 不同预处理方案对重型再生障碍性贫血患者单倍体造血干细胞移植的疗效分析[J]. 中华移植杂志(电子版), 2022, 16(04): 224-230.
[8] 王向丽, 吴涛, 毛东锋, 刘恒, 刘文慧, 周芮, 田红娟. 异基因造血干细胞移植治疗ANKRD26相关性血小板减少症1例并文献复习[J]. 中华细胞与干细胞杂志(电子版), 2024, 14(04): 236-238.
[9] 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.
[10] 詹卓, 晋佩佩, 张建敏, 何莉. 自体干细胞移植治疗POEMS综合征3例[J]. 中华细胞与干细胞杂志(电子版), 2024, 14(01): 27-29.
[11] 刘文慧, 吴涛, 张曦. 间充质干细胞联合血小板生成素受体激动剂在异基因造血干细胞移植后血小板恢复中的研究进展[J]. 中华细胞与干细胞杂志(电子版), 2023, 13(04): 242-246.
[12] 李芸芸, 吴涛, 毛东锋, 鱼玲玲, 刘文慧. 轻型β-地中海贫血供者异基因造血干细胞移植治疗重型再生障碍性贫血1例[J]. 中华细胞与干细胞杂志(电子版), 2023, 13(02): 84-86.
[13] 苏春艳, 吴涛, 毛东锋, 刘文慧, 鱼玲玲, 白海. 异基因造血干细胞移植治疗急性混合细胞白血病后继发外周T细胞淋巴瘤1例[J]. 中华细胞与干细胞杂志(电子版), 2022, 12(05): 289-292.
[14] 卢斌, 张天琪, 徐烨, 刘方奇. 中国人群经典型家族性腺瘤性息肉病的临床、病理和分子特征[J]. 中华结直肠疾病电子杂志, 2024, 13(01): 38-44.
[15] 赵洁, 王岚, 杨红枚, 何屹, 袁红. 异基因造血干细胞移植后并发自身免疫性溶血性贫血患者产生类抗体血清学检测方法及输血策略[J]. 中华临床医师杂志(电子版), 2022, 16(05): 452-456.
阅读次数
全文


摘要