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
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.
Suggested Citation: Seegmiller, A., M. Jagasia. 2015. MLL-MLLT3. My Cancer
(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.
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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