• What is MLL-MLLT3?
  • MLL-MLLT3 in Acute Myeloid Leukemia
  • Clinical Trials

MLL-MLLT3

Lysine (K)-specific methyltransferase 2A, a gene with the official symbol KMT2A, is commonly known as MLL. MLL encodes for a protein involved in regulating gene expression during early development and hematopoiesis (Gene 2013). In cancer, rearrangements involving MLL have been observed in AML and ALL. Its role is also being investigated in gastric, colorectal, and other cancers.

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3) is a gene that encodes for a protein involved in cell growth and maintenance (GenAtlas 2013). In cancer, rearrangements involving MLLT3 have been observed in AML. MLLT3 is also known as AF9.

The MLL-MLLT3 fusion has been observed in AML and B lymphoblastic leukemia/lymphoma (Takachi et al. 2011; Metzler et al. 2004​).

Related Pathways

Contributors: Adam Seegmiller, M.D., Ph.D., Madan Jagasia, M.B.B.S., M.S.

Suggested Citation: Seegmiller, A., M. Jagasia. 2015. MLL-MLLT3. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/mll-mllt3/?tab=0 (Updated December 4).

Last Updated: December 4, 2015

MLL-MLLT3 Fusion Gene in Acute Myeloid Leukemia

MLL-MLLT3 is one of several 11q rearrangements observed in AML; 11q arrangements occur with a frequency of about 1% in AML (Grimwade et al. 2010). The MLL-MLLT3 fusion gene, t(9;11)(p22;q23), results in a protein that prevents normal maturation of hematopoietic cells (Mueller et al. 2009). However, additional mutations are likely required for leukemogenesis (Pession et al. 2003). MLL-MLLT3 fusion genes fall into class II of the “two-hit” theory of leukemogenesis (Naoe and Kiyoi 2013). The official symbol for MLL is KMT2A.​

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Contributors: Adam Seegmiller, M.D., Ph.D., Madan Jagasia, M.B.B.S., M.S., Scott Wheeler, Ph.D. (through June 2014), Cindy L. Vnencak-Jones, Ph.D.

Suggested Citation: Seegmiller, A., M. Jagasia, S. Wheeler, C. Vnencak-Jones. 2014. MLL-MLLT3 Fusion Gene in Acute Myeloid Leukemia. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/mll-mllt3/ (Updated April 11).

Last Updated: April 11, 2014

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