Our ETV6/RUNX1 fusion probe is designed to detect fusions between ETV6 and RUNX1. The probe comes labeled in green and orange, but can be customized to meet your needs.

Gene Background: ETV6/RUNX1 fusion is the most common genetic aberration in pediatric B-cell ALL, found in roughly 25% of patients diagnosed between the ages of 2 and 10 years.1 The fusion protein is composed of the repressor domain of ETV6 (a member of the ETS family of transcription factors) fused to RUNX1 (the DNA-binding subunit of the RUNX1/CBF beta transcription factor complex).2 It functions as a trans-dominant repressor of RUNX1-regulated target genes involved in hematopoiesis.2

** This product is for in vitro and research use only. This product is not intended for diagnostic use.

Gene Summary

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]

Gene Details

Gene Symbol: ETV6

Gene Name: ETS Variant 6

Chromosome: CHR12: 11802787-12048325

Locus: 12p13.2

References

Primary mammary analogue secretory carcinoma of the lung: a case report

Mammary analogue secretory carcinoma (MASC) is a type of salivary gland tumor. A rearrangement in the ETV6 gene can be characteristic of MASC, particularly fusion of ETV6-NTRK3. Our dual-color break apart probe was used to detect ETV6 translocation and aid in the diagnosis of MASC for the patient's tumor.