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.
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Germline ETV6 mutations have recently been reported as a rare form of inherited thrombocytopenia with predisposition to hematologic malignancy.
(6-14,15,17-21-23) Table 3: Summary of the most frequent genomic alterations in BPDCN Change Chromosome Cytoband Loss 13 q12.11-q34 Loss 12 p13.2 Loss 9 p21.3 Loss 9 q34 Loss 5 q23.1-a35.2 Loss 15 q11.2-a26.3 Loss 3 p22.2-p21.1 Loss 19 p13.4-p13.2 Loss 17 p13.3-p11.2 Loss 7 p22.3-p22.1 Loss 6 q23.3-q27 Change % of patients Candidate genes Loss 50-78 RB1 Loss 50-67 CDKN1B, ETV6 Loss 50-66 CDKN2A, CDKN2B, MTAP Loss 50-55 NOTCH, TRAF2, CARD9 Loss 21-44 SMAD5, MSH3, MCC, APC Loss 33-36 CYP1A1 Loss 29 PTPN23 Loss 22-29 CDKN2D, PRKCSH Loss 22 TP53 Loss 21 MAD1L1 Loss 11-21 PARK2 Table 3: Summary of the most frequent genomic alterations in BPDCN.
Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia.
The fact that MASC, like its breast counterpart, is associated with rearrangement of the ETV6 gene has been a great benefit in the early identification and characterization of this entity from morphologic mimickers (predominantly acinic cell carcinoma [AciCC] and adenocarcinoma, not otherwise specified), which has allowed a relatively quick and robust recognition of this entity.
This laboratory-developed NGS test protocol is based on a well-validated research use-only kit that targets 54 genes, including all exons of 15 genes (BCOR, BCORL1, CDKN2A, CEBPA, CUX1, DNMT3A, ETV6, EZH2, IKZF1, KDM6A, PHF6, RAD21, RUNX1, STAG2, and ZRSR2) and hot spot exons/regions of 39 genes (ABL1, ASXL1, ATRX, BRAF, CALR, CBL, CBLB, CBLC, CSF3R, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KMT2A/MLL, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PTEN, PTPN11, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, TET2, TP53, U2AF1, and WT1).
FLT3 is fused to ETV6 in a myeloproliferative disorder with hypereosinophilia and a t(12; 13)(p13; q12) translocation.
In the past investigators have noticed histologic similarities between secretory carcinoma of the breast and acinic cell carcinoma (AcCC) of both salivary gland and mammary origin, (1,2) and in 2008 it was found that AcCC of the breast lacked the ETV6 gene rearrangement found in secretory carcinoma of the breast.
ETV6 rearrangements in patients with infantile fibrosarcomas and congenital mesoblastic nephromas by FISH.
Mammary analogue secretory carcinoma and secretory carcinoma of breast also share a balanced chromosomal translocation, t(12;15)(p13;q25), resulting in an identical E26 transformation-specific variant gene 6 (ETV6)-neurotrophic tyrosine kinase receptor type 3 (NTRK3) gene fusion.
Example genes included in this group: RUNX1, CEBPA, GATA1, GATA2, ETV6, and PHF6.