• What is ETV6?
  • ETV6 in Myelodysplastic Syndromes
  • ETV6 Mutations
  • Clinical Trials

ETV6

The gene ets variant 6 (ETV6) encodes for an ETS family transcription factor (Gene 2014). ETV6 is a DNA-binding protein involved in transcription regulation during embryonic development and hematopoiesis (Gene 2014; Genetics Home Reference 2014). ETV6 variants—rearrangements, in particular—have been observed in myelodysplastic syndromes, other hematologic malignancies, and sarcomas.​

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. ETV6. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/etv6/?tab=0 (Updated September 23).

Last Updated: September 23, 2014

ETV6 in Myelodysplastic Syndromes

ETV6 mutations occur in 1.3–4.2% of MDS (Bejar et al. 2011; Bejar et al. 2012; Haferlach et al. 2014; Walter et al. 2013). The role of ETV6 mutations in MDS is not well understood.

ETV6 mutations are a prognostic biomarker, associated with shorter overall survival (Bejar et al. 2011; NCCN 2014).​

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. ETV6 in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/etv6/ (Updated September 23).

Last Updated: September 23, 2014

ETV6 Mutations in Myelodysplastic Syndromes

Properties
Location of mutations ETV6 gene on 12p13
Frequency of ETV6 mutations in MDS 1.3–4.2% of MDS (Bejar et al. 2011; Bejar et al. 2012; Haferlach et al. 2014; Walter et al. 2013)
Implications for Targeted Therapeutics
Response to bromodomain inhibitors, DOT1L inhibitors, or other targeted epigenetic therapies Unknown at this timea
Response to spliceosome-targeting therapies Unknown at this timeb
Response to Ras-targeting therapies Unknown at this timec

ETV6 mutations are a prognostic biomarker, associated with shorter overall survival (Bejar et al. 2011; NCCN 2014).

a Bromodomain (BRD2, BRD3, BRD4, and BRDt) inhibitors and DOT1L inhibitors are in phase I studies in hematologic malignancies (Abdel-Wahab and Levine 2013). In addition, several other epigenetic targeted therapies, targeting IDH1/IDH2, EZH2, LSD1, or UTX/JMJD3, are in development (Abdel-Wahab and Levine 2013).

b Drugs targeting the spliceosome are in development; these drugs alter gene expression or affect alternative splicing in ways that inhibit cancer progression (Bonnal, Vigevani, and Valcarcel 2012).

c Efforts to develop Ras-targeting therapies are in progress and are hoped to be useful in hematologic malignancies (Ward, Braun, and Shannon 2012).

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. ETV6 Mutations in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/etv6/323/ (Updated September 23).

Last Updated: September 23, 2014

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