My Cancer Genome: Genetically Informed Cancer Medicine

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    • IDH1 c.394C>T (R132C)
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    • IDH2 c.418C>G (R140G)
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    • MLL-MLLT3 Fusion
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    • NPM1 Exon 12 Mutations
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    • PML-RARA Fusion
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    • RBM15-MKL1 Fusion
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    • RPN1-EVI1 Inversion
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    • RUNX1-RUNX1T1 Fusion
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  • What is RPN1-EVI1?
  • RPN1-EVI1 in Acute Myeloid Leukemia
  • RPN1-EVI1 Translocation
  • Clinical Trials

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​).

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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. 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​).​

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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. 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.

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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. 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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Disclaimer: The information presented at MyCancerGenome.org is compiled from sources believed to be reliable. Extensive efforts have been made to make this information as accurate and as up-to-date as possible. However, the accuracy and completeness of this information cannot be guaranteed. Despite our best efforts, this information may contain typographical errors and omissions. The contents are to be used only as a guide, and health care providers should employ sound clinical judgment in interpreting this information for individual patient care.

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