Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Aug;39(8):2042-2045.
doi: 10.1038/s41375-025-02678-4. Epub 2025 Jul 14.

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

Niccolò Bartalucci  1 , Danilo Tarantino  1 , Alessio Enderti  1 , Daniele Colazzo  1 , Paola Guglielmelli  1 , Alessandro M Vannucchi  2
Affiliations

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

Niccolò Bartalucci et al. Leukemia. 2025 Aug.

Erratum in

No abstract available

PubMed Disclaimer

Conflict of interest statement

Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Visualization of Δ3’HMGA2 by Integrated Genome Viewer and Sanger method.
The image shows the Δ3’HMGA2 as visualized by long-read and Sanger sequencing. The Δ3’HMGA2-supporting reads generated by the long-read assay were sorted and imaged through Integrated Genome Viewer (IGV). The snapshots show also chromosome cytoband, reference coordinates, the coverage track and Δ3’HMGA2 size. Panel (A, B) show the deletion of HMGA2 observed in the post-ET MF (Cohort1_4.23) and MF-BP (Cohort1_enb.01) patients of Cohort-1 with GRCh38 coordinates chr12:65964148-65965814 (AR:21.3%) and chr12:65964116-65966249 (AR:0.6%), respectively. Panel (C, D) show Δ3’HMGA2-supporting reads belonging to the post-ET MF (Cohort2_2.56) and PMF (Cohort2_1.9) patients of Cohort-2 with coordinates chr12:65964074-65965055 (AR: 0.5%) and chr12:65964404-65966283 (AF:10.5%), respectively. Panel (E) shows a representative sequence of Δ3’HMGA2, as determined by Sanger sequencing of the PMF patient Cohort2_1.9.
See this image and copyright information in PMC

References

    1. Handa S, Schaniel C, Tripodi J, Ahire D, Mia MB, Klingborg S, et al. HMGA2 overexpression with specific chromosomal abnormalities predominate in CALR and ASXL1 mutated myelofibrosis. Leukemia. 2025;39:663–74. - PMC - PubMed
    1. Guglielmelli P, Coltro G, Mannelli F, Rotunno G, Loscocco GG, Mannarelli C, et al. ASXL1 mutations are prognostically significant in PMF, but not MF following essential thrombocythemia or polycythemia vera. Blood Adv. 2022;6:2927–31. - PMC - PubMed
    1. Salati S, Prudente Z, Genovese E, Pennucci V, Rontauroli S, Bartalucci N, et al. Calreticulin Affects Hematopoietic Stem/Progenitor Cell Fate by Impacting Erythroid and Megakaryocytic Differentiation. Stem Cells Dev. 2018;27:225–36. - PubMed
    1. Ueda K, Ikeda K, Ikezoe T, Harada-Shirado K, Ogawa K, Hashimoto Y, et al. Hmga2 collaborates with JAK2 V617F in the development of myeloproliferative neoplasms. Blood Adv. 2017;1:1001–15. - PMC - PubMed
    1. Guglielmelli P, Zini R, Bogani C, Salati S, Pancrazzi A, Bianchi E, et al. 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). Stem Cells. 2007;25:165–73. - PubMed

LinkOut - more resources