Please use this identifier to cite or link to this item: http://hdl.handle.net/10995/111712
Title: BTK, NuTM2A, and PRPF19 are Novel KMT2A Partner Genes in Childhood Acute Leukemia
Authors: Zerkalenkova, E.
Lebedeva, S.
Borkovskaia, A.
Soldatkina, O.
Plekhanova, O.
Tsaur, G.
Maschan, M.
Maschan, A.
Novichkova, G.
Olshanskaya, Y.
Issue Date: 2021
Publisher: MDPI AG
MDPI AG
Citation: BTK, NuTM2A, and PRPF19 are Novel KMT2A Partner Genes in Childhood Acute Leukemia / E. Zerkalenkova, S. Lebedeva, A. Borkovskaia et al. // Biomedicines. — 2021. — Vol. 9. — Iss. 8. — 924.
Abstract: Chromosomal rearrangements of the human KMT2A/MLL gene are associated with acute leukemias, especially in infants. KMT2A is rearranged with a big variety of partner genes and in multiple breakpoint locations. Detection of all types of KMT2A rearrangements is an essential part of acute leukemia initial diagnostics and follow-up, as it has a strong impact on the patients’ outcome. Due to their high heterogeneity, KMT2A rearrangements are most effectively uncovered by next-generation sequencing (NGS), which, however, requires a thorough prescreening by cytogenetics. Here, we aimed to characterize uncommon KMT2A rearrangements in childhood acute leukemia by conventional karyotyping, FISH, and targeted NGS on both DNA and RNA level with subse-quent validation. As a result of this comprehensive approach, three novel KMT2A rearrangements were discovered: ins(X;11)(q26;q13q25)/KMT2A-BTK, t(10;11)(q22;q23.3)/KMT2A-NUTM2A, and inv(11)(q12.2q23.3)/KMT2A-PRPF19. These novel KMT2A-chimeric genes expand our knowledge of the mechanisms of KMT2A-associated leukemogenesis and allow tracing the dynamics of minimal residual disease in the given patients. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
Keywords: CYTOGENETICS
FUSION GENES
KMT2A
NGS
PEDIATRIC ACUTE LEUKEMIA
URI: http://hdl.handle.net/10995/111712
Access: info:eu-repo/semantics/openAccess
SCOPUS ID: 85112617674
PURE ID: 22981580
ISSN: 2227-9059
metadata.dc.description.sponsorship: Funding: KMT2A rearrangement assessment was supported by the Russian Science Foundation (grant no. 19-75-10056). Quantitative RT-PCR for MRD monitoring was supported by Russian Presidential (grant no. MK-1645.2020.7).
RSCF project card: 19-75-10056
Appears in Collections:Научные публикации, проиндексированные в SCOPUS и WoS CC

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