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Chronic eosinophilic leukemia with recurrent STAT5B N642H mutation-An entity with features of myelodysplastic syndrome/ myeloproliferative neoplasm overlap.

作者信息

Sreedharanunni Sreejesh, Jamwal Manu, Balakrishnan Anand, Aravindan Arun Vijayalakshmi, Sharma Ritika, Singh Namrata, Rajpal Sweta, Singla Shelly, Khadwal Alka Rani, Ahluwalia Jasmina, Malhotra Pankaj, Das Reena

机构信息

Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Leuk Res. 2022 Jan;112:106753. doi: 10.1016/j.leukres.2021.106753. Epub 2021 Nov 23.

DOI:10.1016/j.leukres.2021.106753
PMID:34856508
Abstract
摘要

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1
Chronic eosinophilic leukemia with recurrent STAT5B N642H mutation-An entity with features of myelodysplastic syndrome/ myeloproliferative neoplasm overlap.伴有复发性STAT5B N642H突变的慢性嗜酸性粒细胞白血病——一种具有骨髓增生异常综合征/骨髓增殖性肿瘤重叠特征的实体。
Leuk Res. 2022 Jan;112:106753. doi: 10.1016/j.leukres.2021.106753. Epub 2021 Nov 23.
2
[Chromosomic characteristics associated with leukemia and other hemopathies in Costa Rica].
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3
mutations in myeloid neoplasms differ by disease subtypes but characterize a subset of chronic myeloid neoplasms with eosinophilia and/or basophilia.髓系肿瘤的突变因疾病亚型而异，但特征是伴有嗜酸性粒细胞增多和/或嗜碱性粒细胞增多的慢性髓系肿瘤亚群的一部分。
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4
Bone marrow morphology is a strong discriminator between chronic eosinophilic leukemia, not otherwise specified and reactive idiopathic hypereosinophilic syndrome.骨髓形态学是慢性嗜酸性白血病、未分类和反应性特发性嗜酸性粒细胞增多综合征之间的有力鉴别诊断依据。
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5
Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.伴有嗜酸性粒细胞增多的髓系肿瘤中复发性激活 STAT5B N642H 突变。
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Proposals for standardized protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders, and myelodysplastic syndromes.关于急性白血病、慢性淋巴细胞白血病、慢性髓细胞白血病、慢性骨髓增殖性疾病和骨髓增生异常综合征细胞遗传学分析标准化方案的建议。
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Myeloid somatic mutation panel testing in myeloproliferative neoplasms.髓系体细胞突变panel 检测在骨髓增殖性肿瘤中的应用。
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9
Diagnosing myelodysplastic/myeloproliferative neoplasms: laboratory testing strategies to exclude other disorders.诊断骨髓增生异常/骨髓增殖性肿瘤：排除其他疾病的实验室检测策略。
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引用本文的文献

1
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.
2
Eosinophilia with N642H Mutation: A Heterogeneous Entity with Overlapping Morphological Features and Poor Outcome.伴有N642H突变的嗜酸性粒细胞增多症：一种具有重叠形态学特征和不良预后的异质性实体。
Turk J Haematol. 2024 Dec 2;41(4):275-278. doi: 10.4274/tjh.galenos.2024.2024.0204. Epub 2024 Aug 29.
3
Unveiling myeloid transformation: T-LGLL with eosinophilia masking myeloid-associated STAT5B mutation culminating in AML.
揭示髓系转化：伴有嗜酸性粒细胞增多的T-LGLL掩盖了髓系相关的STAT5B突变，最终发展为急性髓系白血病。
Br J Haematol. 2024 Jun;204(6):2487-2491. doi: 10.1111/bjh.19421. Epub 2024 Mar 20.
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Hematological Neoplasms with Eosinophilia.伴有嗜酸性粒细胞增多的血液系统肿瘤
Cancers (Basel). 2024 Jan 12;16(2):337. doi: 10.3390/cancers16020337.
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Activating mutations can cause both primary hypereosinophilia and lymphocyte-variant hypereosinophilia.激活突变可导致原发性嗜酸性粒细胞增多症和淋巴细胞变异型嗜酸性粒细胞增多症。
Leuk Lymphoma. 2023 Jan;64(1):238-241. doi: 10.1080/10428194.2022.2131413. Epub 2022 Oct 28.