Molecular markers


Last author update: 1 November 2013
Last staff update: 24 October 2022

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PubMed Search: MLL KMT2A

Nat Pernick, M.D.
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Page views in 2023 to date: 218
Cite this page: Pernick N. KMT2A (MLL). website. Accessed September 21st, 2023.
Definition / general
  • Gene at 11q23 called MLL (mixed lineage leukemia), ALL1, HRX and Htrx (from Drosophila trithorax protein)
  • Note: ALL1 may also signify Allergen 1 gene in Cryptococcus (Mol Microbiol 2013;88:713)
  • A histone H3 methyltransferase (GeneCards)
  • Epigenetic transcriptional regulator that controls proliferative expansion of immature hematopoietic progenitors in part by methylating histone 3 on lysine 4
  • Required for normal development, but also mutated in subset of aggressive human leukemias
  • Epigenetics: study of heritable changes in gene expression or chromosome stability that don't alter the underlying DNA sequence; epigenetic changes are established through DNA methylation, non-coding RNAs and covalent modification of specific residues on histone proteins (Cancers (Basel) 2012;4:904)
  • Genetic alterations found in pediatric (particularly infant) and 5-10% of adult de novo and therapy-related acute lymphoblastic leukemias or acute myeloblastic leukemia (Haematologica 2013;98:825)
Clinical features
MLL tumors:
  • Rarely associated with intravascular diffuse large B cell lymphoma (Arch Pathol Lab Med 2009;133:1477)
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