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CSF3R T618I mutant chronic myelomonocytic leukemia (CMML) defines a proliferative CMML subtype enriched in ASXL1 mutations with adverse outcomes.

作者信息

Bezerra Evandro D, Lasho Terra L, Finke Christy M, Saliba Antoine N, Elliott Michelle A, Pardanani Animesh D, Gangat Naseema, Mangaonkar Abhishek A, Ketterling Rhett P, Tefferi Ayalew, Solary Eric, Patnaik Mrinal M

机构信息

Division of Hematology, Mayo Clinic, Rochester, MN, USA.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

出版信息

Blood Cancer J. 2021 Mar 11;11(3):54. doi: 10.1038/s41408-021-00449-9.

DOI:10.1038/s41408-021-00449-9
PMID:33707412
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7952717/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a422/7952717/1b88fc312d74/41408_2021_449_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a422/7952717/1b88fc312d74/41408_2021_449_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a422/7952717/1b88fc312d74/41408_2021_449_Fig1_HTML.jpg

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CSF3R T618I mutant chronic myelomonocytic leukemia (CMML) defines a proliferative CMML subtype enriched in ASXL1 mutations with adverse outcomes.CSF3R T618I突变型慢性粒单核细胞白血病（CMML）定义了一种增殖性CMML亚型，其富含ASXL1突变且预后不良。
Blood Cancer J. 2021 Mar 11;11(3):54. doi: 10.1038/s41408-021-00449-9.
2
ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.ASXL1 突变在 CSF3R 突变的慢性中性粒细胞白血病中频繁发生且具有预后不良影响。
Am J Hematol. 2015 Jul;90(7):653-6. doi: 10.1002/ajh.24031.
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4
CSF3R-mutant chronic myelomonocytic leukemia is a distinct clinically subset with abysmal prognosis: a case report and systematic review of the literature.CSF3R 突变型慢性粒单核细胞白血病是一种具有极差预后的独特临床亚型：病例报告及文献系统回顾。
Leuk Lymphoma. 2023 Sep;64(9):1566-1573. doi: 10.1080/10428194.2023.2227750. Epub 2023 Jul 3.
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Ann Hematol. 2025 Jan;104(1):263-274. doi: 10.1007/s00277-025-06232-1. Epub 2025 Feb 5.
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The spectrum of Ph-negative disease: CNL and CSF3R-related disorders.

本文引用的文献

1
Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms.成人骨髓增生异常/骨髓增殖性肿瘤的分子特征和克隆结构。
Blood. 2020 Oct 15;136(16):1851-1862. doi: 10.1182/blood.2019004229.
2
Efficacy of Ruxolitinib in Patients With Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia.芦可替尼治疗慢性中性粒细胞白血病和不典型慢性髓性白血病患者的疗效。
J Clin Oncol. 2020 Apr 1;38(10):1006-1018. doi: 10.1200/JCO.19.00895. Epub 2019 Dec 27.
3
Clinical, molecular, and prognostic correlates of number, type, and functional localization of TET2 mutations in chronic myelomonocytic leukemia (CMML)-a study of 1084 patients.
Ph阴性疾病谱：慢性中性粒细胞白血病及CSF3R相关疾病
Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):270-278. doi: 10.1182/hematology.2024000555.
4
Chronic myelomonocytic leukemia: molecular pathogenesis and therapeutic innovations.慢性粒单核细胞白血病：分子发病机制与治疗创新
Haematologica. 2025 Jan 1;110(1):22-36. doi: 10.3324/haematol.2024.286061.
5
Differences in classification schemata for myelodysplastic/myeloproliferative overlap neoplasms.骨髓增生异常/骨髓增殖性重叠肿瘤分类方案的差异。
Leukemia. 2022 Dec;36(12):2934-2938. doi: 10.1038/s41375-022-01754-3. Epub 2022 Nov 5.
6
CSF3R T618I mutant myelodysplastic/myeloproliferative neoplasm in the elderly: An age-related disease with unfavorable prognosis.老年CSF3R T618I突变型骨髓增生异常/骨髓增殖性肿瘤：一种预后不良的年龄相关性疾病。
Leuk Res Rep. 2022 Jun 25;17:100334. doi: 10.1016/j.lrr.2022.100334. eCollection 2022.
7
T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile.T618I 突变的慢性粒单核细胞白血病：一种具有独特突变谱的增殖亚型。
Leuk Res Rep. 2022 May 6;17:100323. doi: 10.1016/j.lrr.2022.100323. eCollection 2022.
慢性粒单核细胞白血病（CMML）中 TET2 基因突变数量、类型和功能定位的临床、分子和预后相关性：一项对 1084 例患者的研究。
Leukemia. 2020 May;34(5):1407-1421. doi: 10.1038/s41375-019-0690-7. Epub 2019 Dec 13.
4
Chronic neutrophilic leukemia: 2020 update on diagnosis, molecular genetics, prognosis, and management.慢性中性粒细胞白血病：2020 年诊断、分子遗传学、预后和治疗的更新。
Am J Hematol. 2020 Feb;95(2):212-224. doi: 10.1002/ajh.25688. Epub 2019 Dec 30.
5
CSF3R-mutated chronic neutrophilic leukemia: long-term outcome in 19 consecutive patients and risk model for survival.CSF3R 突变型慢性中性粒细胞白血病：19 例连续患者的长期预后及生存风险模型
Blood Cancer J. 2018 Feb 15;8(2):21. doi: 10.1038/s41408-018-0058-7.
6
Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia.CSF3R、SRSF2和SETBP1突变在慢性嗜中性粒细胞白血病和慢性粒单核细胞白血病中的临床意义
Oncotarget. 2017 Mar 28;8(13):20834-20841. doi: 10.18632/oncotarget.15355.
7
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
8
Prognostic interaction between ASXL1 and TET2 mutations in chronic myelomonocytic leukemia.慢性粒单核细胞白血病中ASXL1与TET2突变之间的预后相互作用
Blood Cancer J. 2016 Jan 15;6(1):e385. doi: 10.1038/bcj.2015.113.
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Mutation of the colony-stimulating factor-3 receptor gene is a rare event with poor prognosis in chronic myelomonocytic leukemia.集落刺激因子-3受体基因突变在慢性粒单核细胞白血病中是罕见事件，预后较差。
Leukemia. 2013 Sep;27(9):1946-9. doi: 10.1038/leu.2013.182. Epub 2013 Jun 18.
10
Prognostic score including gene mutations in chronic myelomonocytic leukemia.包含基因突变的慢性髓单核细胞白血病预后评分。
J Clin Oncol. 2013 Jul 1;31(19):2428-36. doi: 10.1200/JCO.2012.47.3314. Epub 2013 May 20.