ETV6 (12p13) Break probe hybridized to patient material showing a translocation involving the ETV6 region at 12p13 (1RG1R1G). Image kindly provided by Magret Ratjen, Kiel.
IVD ETV6 Break
ETV6 (previously known as TEL) gene is the abbreviation for -ETS variant 6- gene. It encodes an ETS family factor which functions as a transcriptional repressor in hematopoiesis and in vascular development. The gene is located on chromosome 12p13, and is frequently rearranged in human leukemias of myeloid or lymphoid origins. Also systematic deletion of the normal ETV6 allele in patients with ETV6-RUNX1 fusions can be found. The ETV6 Break FISH probe is optimized to detect translocations involving the ETV6 region at 12p13 in a dual-color, split assay on metaphase/interphase spreads and bone marrow cells.
References: Golub et al, 1995, PNAS 92; 4917-4921. Ford et al, 2001, Blood 98; 558-564.