ETV6


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ETV6

A gene on 12p13 that encodes a transcription factor required for haematopoiesis and for maintaining developing vasculature. ETV6 is involved in an array of chromosomal rearrangements linked to leukaemia and congenital fibrosarcoma.
References in periodicals archive ?
Researchers discovered the association between ETV6 and childhood ALL by sequencing the whole exome of a family in which the mother and two of the three children have a history of pediatric ALL.
In summary, this is an unusual case of long-standing low-grade lymphoplasmacytic lymphoma transforming to Burkitt lymphoma with the demonstration of origination from the same clone following acquisition of a MYC translocation and deletion of the ETV6 gene.
Apart from chromosome 5, ETV6 has also been found to fuse with other genes in different chromosomes like AML1 in acute lymphoblastic leukemia (ALL), with ABL or JAK2 in early pre-B-cell ALL, with MN1 in MPD, with MDS1/EVI1 in MPD, and with STL in a B-cell ALL cell line [7].
Similar to the namesake tumor in the breast, the salivary gland mammary analogue secretory carcinoma harbors a translocation between the ETV6 and the NTRK3 genes.
The t(12;15) translocation is present in most cases (125) and results in the fusion of ETV6 gene on 12q13 to the neurotrophin 3 receptor gene (NTRK3 or TRKC) on chromosome 15q25.