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 ?
Although ETV6 (TEL) is very frequently involved in rearrangements in hematological malignancies, it is not the only gene that goes into the chromosomal abnormalities in this region.
Interstitial deletion of the short arm of chromosome 12 during clonal evolution in myelodysplastic syndrome with t(5;12)(q13;p13) involving the ETV6 gene.
The recurrent balanced chromosomal translocation t(12,15)(p13; q25), which results in the fusion of the ETV6 gene on 12p13, a transcriptional regulator, with the NTRK3 gene on 15q25, a membrane receptor kinase, (5) is so far specific to MASC among other salivary gland tumors.
No case of AcCC has been found to harbor the ETV6 gene rearrangement.
In problematic cases or in biopsy material, molecular studies may be useful, because no LGSDC has ever been found to harbor the ETV6 gene rearrangement.
The findings support the notion that in our patient, Burkitt lymphoma arose from the same clone as her low-grade lymphoplasmacytic lymphoma after acquisition of the MYC proto-oncogene, loss of the ETV6 tumor suppressor gene at 12p13, and loss of p53 through monosomy 17.
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.
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.