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2022 1
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Page 1
The KMT2A recombinome of acute leukemias in 2023.
Meyer C, Larghero P, Almeida Lopes B, Burmeister T, Gröger D, Sutton R, Venn NC, Cazzaniga G, Corral Abascal L, Tsaur G, Fechina L, Emerenciano M, Pombo-de-Oliveira MS, Lund-Aho T, Lundán T, Montonen M, Juvonen V, Zuna J, Trka J, Ballerini P, Lapillonne H, Van der Velden VHJ, Sonneveld E, Delabesse E, de Matos RRC, Silva MLM, Bomken S, Katsibardi K, Keernik M, Grardel N, Mason J, Price R, Kim J, Eckert C, Lo Nigro L, Bueno C, Menendez P, Zur Stadt U, Gameiro P, Sedék L, Szczepański T, Bidet A, Marcu V, Shichrur K, Izraeli S, Madsen HO, Schäfer BW, Kubetzko S, Kim R, Clappier E, Trautmann H, Brüggemann M, Archer P, Hancock J, Alten J, Möricke A, Stanulla M, Lentes J, Bergmann AK, Strehl S, Köhrer S, Nebral K, Dworzak MN, Haas OA, Arfeuille C, Caye-Eude A, Cavé H, Marschalek R. Meyer C, et al. Leukemia. 2023 May;37(5):988-1005. doi: 10.1038/s41375-023-01877-1. Epub 2023 Apr 5. Leukemia. 2023. PMID: 37019990 Free PMC article.
Further 16 rearrangements were out-of-frame fusions, 18 patients had no partner gene fused to 5'-KMT2A, two patients had a 5'-KMT2A deletion, and one ETV6::RUNX1 patient had an KMT2A insertion at the breakpoint. The seven most frequent TPGs and PTDs account for more than 9 …
Further 16 rearrangements were out-of-frame fusions, 18 patients had no partner gene fused to 5'-KMT2A, two patients had a 5'-KMT2A deletion …
Progression in Myeloid Neoplasms: Beyond the Myeloblast.
Faria C, Tzankov A. Faria C, et al. Pathobiology. 2024;91(1):55-75. doi: 10.1159/000530940. Epub 2023 May 11. Pathobiology. 2024. PMID: 37232015 Free PMC article. Review.
MN with LB transformation is associated with secondary genetic events linked to lineage reprogramming leading to the deregulation of ETV6, IKZF1, PAX5, PU.1, and RUNX1. Finally, the acquisition of MAPK-pathway gene mutations may shape MN toward histiocytic differentiation. …
MN with LB transformation is associated with secondary genetic events linked to lineage reprogramming leading to the deregulation of ETV6
Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.
Arai H, Matsui H, Chi S, Utsu Y, Masuda S, Aotsuka N, Minami Y. Arai H, et al. Int J Mol Sci. 2024 Jan 4;25(1):652. doi: 10.3390/ijms25010652. Int J Mol Sci. 2024. PMID: 38203823 Free PMC article. Review.
Those without pre-existing disease or organ dysfunction; DDX41, TP53, CEBPA, those with pre-existing platelet disorders; ANKRD26, ETV6, RUNX1, and those with other organ dysfunctions; SAMD9/SAMD9L, GATA2, and inherited bone marrow failure syndromes. ...
Those without pre-existing disease or organ dysfunction; DDX41, TP53, CEBPA, those with pre-existing platelet disorders; ANKRD26, ETV6
Backtracking NOM1::ETV6 fusion to neonatal pathogenesis of t(7;12) (q36;p13) infant AML.
Bousquets-Muñoz P, Molina O, Varela I, Álvarez-Eguiluz Á, Fernández-Mateos J, Gómez A, Sánchez EG, Balbín M, Ruano D, Ramírez-Orellana M, Puente XS, Menéndez P, Velasco-Hernandez T. Bousquets-Muñoz P, et al. Leukemia. 2024 Aug;38(8):1808-1812. doi: 10.1038/s41375-024-02293-9. Epub 2024 May 28. Leukemia. 2024. PMID: 38806630 Free PMC article. No abstract available.
Genomic landscape of TP53-mutated myeloid malignancies.
Abel HJ, Oetjen KA, Miller CA, Ramakrishnan SM, Day RB, Helton NM, Fronick CC, Fulton RS, Heath SE, Tarnawsky SP, Nonavinkere Srivatsan S, Duncavage EJ, Schroeder MC, Payton JE, Spencer DH, Walter MJ, Westervelt P, DiPersio JF, Ley TJ, Link DC. Abel HJ, et al. Blood Adv. 2023 Aug 22;7(16):4586-4598. doi: 10.1182/bloodadvances.2023010156. Blood Adv. 2023. PMID: 37339484 Free PMC article.
Although aneuploidy and chromothripsis are shared with most TP53-mutated cancers, the specific chromosome abnormalities are distinct to each cancer type, suggesting a dependence on the tissue of origin. ETV6 expression is reduced in nearly all cases of TP53-mutated AML/MDS …
Although aneuploidy and chromothripsis are shared with most TP53-mutated cancers, the specific chromosome abnormalities are distinct to each …
Mutational and transcriptional landscape of pediatric B-cell precursor lymphoblastic lymphoma.
Kroeze E, Iaccarino I, Kleisman MM, Mondal M, Beder T, Khouja M, Höppner MP, Scheijde-Vermeulen MA, Kester LA, Brüggemann M, Baldus CD, Cario G, Bladergroen RS, Garnier N, Attarbaschi A, Verdu-Amorós J, Sutton R, Macintyre E, Scholten K, Arias Padilla L, Burkhardt B, Beishuizen A, den Boer ML, Kuiper RP, Loeffen JLC, Boer JM, Klapper W. Kroeze E, et al. Blood. 2024 Jul 4;144(1):74-83. doi: 10.1182/blood.2024023938. Blood. 2024. PMID: 38588489
Similar to BCP-ALL, the most frequent subtypes of BCP-LBL were high hyperdiploidy and ETV6::RUNX1. Tyrosine kinase/cytokine receptor rearrangements were detected in 7% of BCP-LBL. ...
Similar to BCP-ALL, the most frequent subtypes of BCP-LBL were high hyperdiploidy and ETV6::RUNX1. Tyrosine kinase/cytokine receptor …
Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
Trottier AM, Feurstein S, Godley LA. Trottier AM, et al. Best Pract Res Clin Haematol. 2024 Mar;37(1):101537. doi: 10.1016/j.beha.2024.101537. Epub 2024 Feb 1. Best Pract Res Clin Haematol. 2024. PMID: 38490765 Review.
In this review, we will shed light on high malignant penetrance (e.g., CEBPA, GATA2, SAMD9/SAMD9L, and TP53) versus variable malignant penetrance syndromes (e.g., ANKRD26, DDX41, ETV6, RUNX1, and various bone marrow failure syndromes) and their clinical features, such as v …
In this review, we will shed light on high malignant penetrance (e.g., CEBPA, GATA2, SAMD9/SAMD9L, and TP53) versus variable malignant penet …
Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations.
Wang J, Fu W, Bao W, Gong W, Xu S, Ling C, Jin Q, Zhang Q. Wang J, et al. Platelets. 2023 Dec;34(1):2176167. doi: 10.1080/09537104.2023.2176167. Platelets. 2023. PMID: 36786035 Free article. Review.
CALR mutation disappeared and new mutations emerged as the disease progressed, such as ASXL1, CBL, ETV6, and PTPN11 mutations. This case highlights that screening for additional mutations using NGS should be considered in patients with ET to assess the prognosis, especiall …
CALR mutation disappeared and new mutations emerged as the disease progressed, such as ASXL1, CBL, ETV6, and PTPN11 mutations. This c …
101 results