• What is RBM15-MKL1?
  • RBM15-MKL1 in Acute Myeloid Leukemia
  • RBM15-MKL1 Fusion
  • Clinical Trials

RBM15-MKL1

RNA binding motif protein 15 (RBM15) is a gene that encodes for a protein with repressor function in several signaling pathways (Gene 2013a). In cancer, rearrangements involving RBM15 have been observed in AML. Its role is also being investigated in other cancers.

Megakaryoblastic leukemia (translocation) 1 (MKL1) is a gene that encodes a protein that interacts with myocardin (Gene 2013b​). In cancer, rearrangements involving MKL1 have been observed in AML. Its role is also being investigated in other cancers.

The RBM15-MKL1 fusion has been observed in AML, particularly acute megakaryoblastic leukemia.

Related Pathways

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

Suggested Citation: Seegmiller, A., M. Jagasia. 2015. RBM15-MKL1. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/rbm15-mkl1/?tab=0 (Updated December 4).

Last Updated: December 4, 2015

RBM15-MKL1 Fusion Gene in Acute Myeloid Leukemia

The RBM15-MKL1 fusion gene, t(1;22)(p13;q13), is rarely observed in AML but is associated with megakaryoblastic leukemia. The fusion protein has been shown in preclinical studies to disrupt Notch signaling and cytokine signaling (Mercher et al. 2009).

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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. 2013. RBM15-MKL1 Fusion Gene in Acute Myeloid Leukemia. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/rbm15-mkl1/ (Updated September 9).

Last Updated: September 9, 2013

RBM15-MKL1 t(1;22)(p13;q13) Translocation in Acute Myeloid Leukemia

Properties
Location of translocation Chromosomal rearrangements involving the RBM15 gene on 1p13 and the MKL1 gene on 22q13
Frequency of RBM15-MKL1 translocation in AML < 0.5% (Grimwade et al. 2010)
Implications for Targeted Therapeutics
Response to FLT3 inhibitors Currently no role for RBM15-MKL1 in predicting response
Response to MEK inhibitors Currently no role for RBM15-MKL1 in predicting response
Response to JAK2 inhibitors Currently no role for RBM15-MKL1 in predicting response
Response to DOT1L inhibitors Currently no role for RBM15-MKL1 in predicting response

The RBM15-MKL1 gene fusion created by the t(1;22)(p13;q13) translocation is associated with poor prognosis in AML (Falini et al. 2010; WHO 2008 pp.110-123). This gene fusion is mostly observed in infants rather than older patients.

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

Suggested Citation: Seegmiller, A., M. Jagasia. 2013. RBM15-MKL1 t(1;22)(p13;q13) Translocation in Acute Myeloid Leukemia. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/rbm15-mkl1/257/ (Updated June 4).

Last Updated: June 4, 2013

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