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A novel approach for highly sensitive and rapid identification of HMGA2 submicroscopic deletions in myeloproliferative neoplasms.

作者信息

Bartalucci Niccolò, Tarantino Danilo, Enderti Alessio, Colazzo Daniele, Guglielmelli Paola, Vannucchi Alessandro M

机构信息

Department of Experimental and Clinical Medicine, Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), AOU Careggi, University of Florence, Florence, Italy.

出版信息

Leukemia. 2025 Aug;39(8):2042-2045. doi: 10.1038/s41375-025-02678-4. Epub 2025 Jul 14.

DOI:10.1038/s41375-025-02678-4
PMID:40659987
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12310541/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3209/12310541/20c89b253817/41375_2025_2678_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3209/12310541/20c89b253817/41375_2025_2678_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3209/12310541/20c89b253817/41375_2025_2678_Fig1_HTML.jpg

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A novel approach for highly sensitive and rapid identification of HMGA2 submicroscopic deletions in myeloproliferative neoplasms.一种用于高度敏感且快速鉴定骨髓增殖性肿瘤中HMGA2亚显微缺失的新方法。
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本文引用的文献

1
HMGA2 overexpression with specific chromosomal abnormalities predominate in CALR and ASXL1 mutated myelofibrosis.在伴有CALR和ASXL1突变的骨髓纤维化中，高迁移率族蛋白A2（HMGA2）过表达并伴有特定染色体异常的情况占主导。
Leukemia. 2025 Mar;39(3):663-674. doi: 10.1038/s41375-024-02496-0. Epub 2024 Dec 23.
2
ASXL1 mutations are prognostically significant in PMF, but not MF following essential thrombocythemia or polycythemia vera.ASXL1突变在原发性骨髓纤维化中具有预后意义，但在真性红细胞增多症或原发性血小板增多症后的骨髓纤维化中则不然。
Blood Adv. 2022 May 10;6(9):2927-2931. doi: 10.1182/bloodadvances.2021006350.
3
Hmga2 collaborates with V617F in the development of myeloproliferative neoplasms.
Hmga2与V617F在骨髓增殖性肿瘤的发展过程中相互协作。
Blood Adv. 2017 Jun 14;1(15):1001-1015. doi: 10.1182/bloodadvances.2017004457. eCollection 2017 Jun 27.
4
Calreticulin Affects Hematopoietic Stem/Progenitor Cell Fate by Impacting Erythroid and Megakaryocytic Differentiation.钙网蛋白通过影响红系和巨核系分化来影响造血干/祖细胞命运。
Stem Cells Dev. 2018 Feb 15;27(4):225-236. doi: 10.1089/scd.2017.0137. Epub 2018 Jan 22.
5
3'UTR-truncated Hmga2 cDNA causes MPN-like hematopoiesis by conferring a clonal growth advantage at the level of HSC in mice.3'UTR 截短的 Hmga2 cDNA 通过在 HSC 水平赋予克隆生长优势导致类似于 MPN 的造血。
Blood. 2011 Jun 2;117(22):5860-9. doi: 10.1182/blood-2011-02-334425. Epub 2011 Apr 1.
6
Molecular profiling of CD34+ cells in idiopathic myelofibrosis identifies a set of disease-associated genes and reveals the clinical significance of Wilms' tumor gene 1 (WT1).原发性骨髓纤维化中CD34+细胞的分子谱分析鉴定出一组疾病相关基因，并揭示了威尔姆斯肿瘤基因1（WT1）的临床意义。
Stem Cells. 2007 Jan;25(1):165-73. doi: 10.1634/stemcells.2006-0351. Epub 2006 Sep 21.
7
Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies.髓系恶性肿瘤中多种染色体易位导致的HMGA2破坏及异常表达。
Leukemia. 2005 Feb;19(2):245-52. doi: 10.1038/sj.leu.2403605.