1例成人ETV6-ASCL6融合基因阳性慢性骨髓增殖性肿瘤病例及文献复习
A case of adult ETV6-ASCL6 fusion gene positive chronic myeloproliferative tumor and literature review.
作者信息
Xu Wei-Ge, Wang Pei, Yang Yan-Min, Yuan Xian-Hua
机构信息
Wei-ge Xu Department of Hematology, First Affiliated Hospital of Xingtai Medical College, Xingtai 054000, Hebei, China.
Pei Wang Department of Hematology, First Affiliated Hospital of Xingtai Medical College, Xingtai 054000, Hebei, China.
出版信息
Pak J Med Sci. 2024 Dec;40(11):2759-2762. doi: 10.12669/pjms.40.11.8556.
Abstract
ETV6-ASCL6 fusion gene plays an important role in hematopoiesis and hematological malignancies, but it is rare in hematological diseases. This paper describes a case of etv6-ascl6 fusion gene positive patient who was successively diagnosed as myelofibrosis, eosinophilic leukemia, basophilic leukemia and secondary acute myeloid leukemia. The clinical manifestations and disease evolution have its unique characteristics.
摘要
ETV6-ASCL6融合基因在造血及血液系统恶性肿瘤中起重要作用，但在血液系统疾病中较为罕见。本文描述了1例ETV6-ASCL6融合基因阳性患者，该患者先后被诊断为骨髓纤维化、嗜酸性粒细胞白血病、嗜碱性粒细胞白血病及继发性急性髓系白血病。其临床表现及疾病演变具有独特特点。
相似文献
1
A case of adult ETV6-ASCL6 fusion gene positive chronic myeloproliferative tumor and literature review.1例成人ETV6-ASCL6融合基因阳性慢性骨髓增殖性肿瘤病例及文献复习
Pak J Med Sci. 2024 Dec;40(11):2759-2762. doi: 10.12669/pjms.40.11.8556.
2
Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features.伴 ETV6::ACSL6 融合的髓系肿瘤：分子和临床特征全景。
Hematology. 2022 Dec;27(1):1010-1018. doi: 10.1080/16078454.2022.2117206.
3
Imatinib-Induced Clinical Response in ETV6::ACSL6 Myeloid Neoplasm with Eosinophilic Pneumonitis: A Case Report.伊马替尼治疗ETV6::ACSL6髓系肿瘤伴嗜酸性肺炎的临床反应：一例报告
Am J Case Rep. 2025 Apr 9;26:e946517. doi: 10.12659/AJCR.946517.
4
Characterization of leukemias with ETV6-ABL1 fusion.具有ETV6-ABL1融合的白血病的特征分析。
Haematologica. 2016 Sep;101(9):1082-93. doi: 10.3324/haematol.2016.144345. Epub 2016 May 26.
5
Novel ETV6::RAPGEF6 fusion gene in chronic eosinophilic leukemia: compiling evidence on the role of IL3 overexpression in tumorigenesis.慢性嗜酸性粒细胞白血病中的新型ETV6::RAPGEF6融合基因：汇总白细胞介素3过表达在肿瘤发生中作用的证据
Ann Hematol. 2025 Mar;104(3):2017-2021. doi: 10.1007/s00277-025-06217-0. Epub 2025 Feb 9.
6
ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes.髓系肿瘤中的 ETV6-ACSL6 融合基因：临床特征、现有实践和结局。
Orphanet J Rare Dis. 2020 Jul 28;15(1):192. doi: 10.1186/s13023-020-01478-6.
7
Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin.伴有 ETV6/ABL1（TEL/ABL）融合的急性白血病：预后不良且与产前因素相关。
Genes Chromosomes Cancer. 2010 Oct;49(10):873-84. doi: 10.1002/gcc.20796.
8
Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression.伴有ETV6-ABL1表达的混合表型（B淋巴细胞/髓系）急性白血病
Pak J Med Sci. 2024 Jul;40(6):1294-1299. doi: 10.12669/pjms.40.6.8497.
9
Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review.伴有ETV6-ABL1融合的骨髓增殖性肿瘤：一例报告及文献复习
Mol Cytogenet. 2013 Sep 20;6(1):39. doi: 10.1186/1755-8166-6-39.
10
Myeloproliferative Neoplasm Driven by in an Adolescent with Recent History of Burkitt Leukemia.由 驱动的青少年骨髓增殖性肿瘤，该患者近期有伯基特白血病病史。
Curr Oncol. 2023 Jun 21;30(7):5946-5952. doi: 10.3390/curroncol30070444.
本文引用的文献
1
Promoter swapping of truncated PDGFRB drives Ph-like acute lymphoblastic leukemia.截短型血小板衍生生长因子受体β（PDGFRB）的启动子置换驱动类费城染色体急性淋巴细胞白血病。
NPJ Precis Oncol. 2023 Dec 9;7(1):132. doi: 10.1038/s41698-023-00485-7.
2
Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features.伴 ETV6::ACSL6 融合的髓系肿瘤：分子和临床特征全景。
Hematology. 2022 Dec;27(1):1010-1018. doi: 10.1080/16078454.2022.2117206.
3
A Novel Fusion in Chronic Eosinophilic Leukemia Not Otherwise Specified With t(5; 12) (q31; p13): A Case Report and Literature Review.1例t(5;12)(q31;p13)的未另行指定的慢性嗜酸性粒细胞白血病中的新型融合：病例报告及文献复习
Front Oncol. 2022 Jun 7;12:887945. doi: 10.3389/fonc.2022.887945. eCollection 2022.
4
t(5;12)(q31;p13)/ETV6::ACSL6 and t(6;9)(p23;q34)/DEK::NUP214 concurrence in acute myeloid leukemia: an unusual association of two rare abnormalities.急性髓系白血病中t(5;12)(q31;p13)/ETV6::ACSL6与t(6;9)(p23;q34)/DEK::NUP214并发：两种罕见异常的不寻常关联
Cancer Genet. 2022 Apr;262-263:35-39. doi: 10.1016/j.cancergen.2021.12.006. Epub 2021 Dec 22.
5
Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.急性淋巴细胞白血病的全转录组分析：DFCI ALL 联盟方案 16-001 的报告。
Blood Adv. 2022 Feb 22;6(4):1329-1341. doi: 10.1182/bloodadvances.2021005634.
6
ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes.髓系肿瘤中的 ETV6-ACSL6 融合基因：临床特征、现有实践和结局。
Orphanet J Rare Dis. 2020 Jul 28;15(1):192. doi: 10.1186/s13023-020-01478-6.
7
Rearrangement of PDGFRβ gene in a patient with Ph-negative chronic myeloid leukemia t(5;12)(q33;p13) in imatinib mesylate treatment-free remission: a case report.甲磺酸伊马替尼治疗后处于无治疗缓解期的Ph阴性慢性髓性白血病t(5;12)(q33;p13)患者中PDGFRβ基因重排：一例报告
Int J Clin Exp Pathol. 2019 Jun 1;12(6):2284-2287. eCollection 2019.
8
The correction of ETV6/RUNX1 translocation in acute lymphocytic leukemia cells: a new gene targeting system by homologous recombination mechanism.急性淋巴细胞白血病细胞中ETV6/RUNX1易位的校正：一种基于同源重组机制的新型基因靶向系统。
J Appl Genet. 2020 Feb;61(1):67-73. doi: 10.1007/s13353-019-00524-9. Epub 2019 Oct 10.
9
Acute myeloid leukemia carrying ETV6 mutations: biologic and clinical features.携带ETV6突变的急性髓系白血病：生物学和临床特征
Hematology. 2018 Oct;23(9):608-612. doi: 10.1080/10245332.2018.1482051. Epub 2018 Jun 12.
10
Chronic eosinophilic leukemia, NOS with t(5;12)(q31;p13)/ETV6-ACSL6 gene fusion: a novel variant of myeloid proliferative neoplasm with eosinophilia.慢性嗜酸性粒细胞白血病，NOS，伴有t(5;12)(q31;p13)/ETV6-ACSL6基因融合：一种伴有嗜酸性粒细胞增多的髓系增殖性肿瘤的新型变异型
Hum Pathol (N Y). 2016 Sep;5:6-9. doi: 10.1016/j.ehpc.2015.10.001.
Zotero 插件