RPN1-EVI1 (RPN1-MECOM) t(3;3)(q21;q26.2) Translocation in Acute Myeloid Leukemia

RPN1-EVI1 (RPN1-MECOM)

Ribophorin I (RPN1) is a gene that encodes a membrane protein of the rough endoplasmic reticulum that is a component of an N-oligosaccharyl transferase complex (Gene 2013a). In cancer, rearrangements involving RPN1 have been observed in AML.

MDS1 and EVI1 complex locus (MECOM, also known as EVI1) is a gene that encodes a transcriptional regulator protein (Gene 2013b). In cancer, rearrangements involving EVI1 have been observed in AML. Its role is also being investigated in MDS and other cancers.

The RPN1-EVI1 fusion has been observed in AML and CML (Lee et al. 2010).

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

Suggested Citation: Seegmiller, A., M. Jagasia. 2013. RPN1-EVI1 (RPN1-MECOM). My Cancer Genome https://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/rpn1-evi1/?tab=0 (Updated June 4).

Last Updated: June 4, 2013

RPN1-EVI1 (RPN1-MECOM) Fusion Gene in Acute Myeloid Leukemia

The RPN1-EVI1 fusion gene, inv(3)(q21q26.2) or t(3;3)(q21;126.2), is observed in about 1% of AML patients (Grimwade et al. 2010; Zhang and Le Beau 2013). EVI1 (MECOM) is not normally expressed in hematopoietic cells. Expression of the RPN1-EVI1 fusion protein is driven by the RPN1 promoter sequence, and the EVI1 portion of the protein is thought to be responsible for leukemogenesis (Martinelli et al. 2003; Shearer et al. 2010).

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. RPN1-EVI1 (RPN1-MECOM) Fusion Gene in Acute Myeloid Leukemia. My Cancer Genome https://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/rpn1-evi1/ (Updated September 9).

Last Updated: September 9, 2013

RPN1-EVI1 (RPN1-MECOM) t(3;3)(q21;q26.2) Translocation in Acute Myeloid Leukemia

Properties
Location of translocation	Chromosomal rearrangements involving the RPN1 gene on 3q21 and the EVI1 gene on 3q26.2
Frequency of t(3;3) and inv(3) in AML	1% (Grimwade et al. 2010; Zhang and Le Beau 2013)
Implications for Targeted Therapeutics
Response to FLT3 inhibitors	Currently no role for RPN1-EVI1 in predicting response
Response to MEK inhibitors	Currently no role for RPN1-EVI1 in predicting response
Response to JAK2 inhibitors	Currently no role for RPN1-EVI1 in predicting response
Response to DOT1L inhibitors	Currently no role for RPN1-EVI1 in predicting response

The RPN1-EVI1 gene fusion created by the t(3;3)(q21;q26.2) translocation is associated with poor prognosis in AML (NCCN 2012). The official symbol for EVI1 is MECOM.

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

Suggested Citation: Seegmiller, A., M. Jagasia. 2013. RPN1-EVI1 (RPN1-MECOM) t(3;3)(q21;q26.2) Translocation in Acute Myeloid Leukemia. My Cancer Genome https://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/rpn1-evi1/259/ (Updated June 4).

Last Updated: June 4, 2013

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