TEL

Summary

Gene Symbol: TEL
Description: ETS variant 6
Alias: TEL, TEL/ABL, THC5, transcription factor ETV6, ETS translocation variant 6, ETS-related protein Tel1, TEL1 oncogene, ets variant gene 6 (TEL oncogene)
Species: human
Products:     TEL

Top Publications

  1. Fuka G, Kauer M, Kofler R, Haas O, Panzer Grümayer R. The leukemia-specific fusion gene ETV6/RUNX1 perturbs distinct key biological functions primarily by gene repression. PLoS ONE. 2011;6:e26348 pubmed publisher
    ETV6/RUNX1 (E/R) (also known as TEL/AML1) is the most frequent gene fusion in childhood acute lymphoblastic leukemia (ALL) and also most likely the crucial factor for disease initiation; its role in leukemia propagation and maintenance, ..
  2. Torrano V, Procter J, Cardus P, Greaves M, Ford A. ETV6-RUNX1 promotes survival of early B lineage progenitor cells via a dysregulated erythropoietin receptor. Blood. 2011;118:4910-8 pubmed publisher
    ..These data support the contention that ETV6-RUNX1 directly activates ectopic expression of a functional EPOR and provides cell survival signals that may contribute critically to persistence of covert premalignant clones in children. ..
  3. Gandemer V, Rio A, de Tayrac M, Sibut V, Mottier S, Ly Sunnaram B, et al. Five distinct biological processes and 14 differentially expressed genes characterize TEL/AML1-positive leukemia. BMC Genomics. 2007;8:385 pubmed
    ..This rearrangement results in the fusion of ETV6 (TEL) and RUNX1 (AML1) genes and defines a relatively uniform category, although only some patients suffer very late ..
  4. Buijs A, Sherr S, van Baal S, van Bezouw S, van der Plas D, Geurts van Kessel A, et al. Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11. Oncogene. 1995;10:1511-9 pubmed
    ..MN1, a gene on chromosome 22q11 was shown to be fused to TEL, a member of the family of ETS transcription factors on chromosome 12p13...
  5. Skalova A, Vanecek T, Majewska H, Laco J, Grossmann P, Simpson R, et al. Mammary analogue secretory carcinoma of salivary glands with high-grade transformation: report of 3 cases with the ETV6-NTRK3 gene fusion and analysis of TP53, ?-catenin, EGFR, and CCND1 genes. Am J Surg Pathol. 2014;38:23-33 pubmed publisher
    ..Recognizing HG-transformed MASC and testing for ETV6 rearrangement may be of potential value in patient treatment, because the presence of the ETV6-NTRK3 translocation may represent a therapeutic target in MASC. ..
  6. Kuster L, Grausenburger R, Fuka G, Kaindl U, Krapf G, Inthal A, et al. ETV6/RUNX1-positive relapses evolve from an ancestral clone and frequently acquire deletions of genes implicated in glucocorticoid signaling. Blood. 2011;117:2658-67 pubmed publisher
    ..These findings implicate glucocorticoid-associated drug resistance in ETV6/RUNX1-positive relapse pathogenesis and therefore might help to guide future therapies. ..
  7. Diakos C, Zhong S, Xiao Y, Zhou M, Vasconcelos G, Krapf G, et al. TEL-AML1 regulation of survivin and apoptosis via miRNA-494 and miRNA-320a. Blood. 2010;116:4885-93 pubmed publisher
    ..We explored the impact of TEL-AML1 (ETV6-RUNX1), the most common fusion protein in childhood leukemia, on miRNA expression and the leukemic ..
  8. Green S, Coyne H, McIntosh L, Graves B. DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association. J Biol Chem. 2010;285:18496-504 pubmed publisher
    The ETS protein TEL, a transcriptional repressor, contains a PNT domain that, as an isolated fragment in vitro, self-associates to form a head-to-tail polymer...
  9. Krapf G, Kaindl U, Kilbey A, Fuka G, Inthal A, Joas R, et al. ETV6/RUNX1 abrogates mitotic checkpoint function and targets its key player MAD2L1. Oncogene. 2010;29:3307-12 pubmed publisher
    ..Although tetraploidy is an almost exclusive feature of E/R-positive leukemias, its rarity within this particular subgroup implies that further yet unknown factors are required for its manifestation. ..

More Information

Publications96

  1. Strehl S, Nebral K, König M, Harbott J, Strobl H, Ratei R, et al. ETV6-NCOA2: a novel fusion gene in acute leukemia associated with coexpression of T-lymphoid and myeloid markers and frequent NOTCH1 mutations. Clin Cancer Res. 2008;14:977-83 pubmed publisher
    ..a novel recurrent t(8;12)(q13;p13), which results in a fusion between the transcriptional repressor ETV6 (TEL) and the transcriptional coactivator NCOA2 (TIF2) in six cases of childhood leukemia expressing both T-lymphoid and ..
  2. Pine S, Wiemels J, Jayabose S, Sandoval C. TEL-AML1 fusion precedes differentiation to pre-B cells in childhood acute lymphoblastic leukemia. Leuk Res. 2003;27:155-64 pubmed
    The TEL-AML1 gene fusion results from a karyotypically cryptic t(12;21) translocation, the most common genetic abnormality in pediatric acute lymphoblastic leukemia (ALL)...
  3. Lopez R, Carron C, Oury C, Gardellin P, Bernard O, Ghysdael J. TEL is a sequence-specific transcriptional repressor. J Biol Chem. 1999;274:30132-8 pubmed
    b>TEL is a gene frequently involved in specific chromosomal translocations in human leukemia and sarcoma that encodes a member of the ETS family of transcriptional regulators...
  4. Knezevich S, McFadden D, Tao W, Lim J, Sorensen P. A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Nat Genet. 1998;18:184-7 pubmed
    ..By cloning the chromosome breakpoints, we show that the rearrangement fuses the ETV6 (also known as TEL) gene from 12p13 with the 15q25 NTRK3 neurotrophin-3 receptor gene (also known as TRKC)...
  5. Kim C, Phillips M, Kim W, Gingery M, Tran H, Robinson M, et al. Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression. EMBO J. 2001;20:4173-82 pubmed
    b>TEL is a transcriptional repressor that is a frequent target of chromosomal translocations in a large number of hematalogical malignancies...
  6. Hong D, Gupta R, Ancliff P, Atzberger A, Brown J, Soneji S, et al. Initiating and cancer-propagating cells in TEL-AML1-associated childhood leukemia. Science. 2008;319:336-9 pubmed publisher
    ..precursor-B cell acute lymphoblastic leukemia that is characterized by a chromosomal translocation generating a TEL-AML1 fusion gene...
  7. Mullighan C, Goorha S, Radtke I, Miller C, Coustan Smith E, Dalton J, et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature. 2007;446:758-64 pubmed
    ..Moreover, these data demonstrate the power of high-resolution, genome-wide approaches to identify new molecular lesions in cancer. ..
  8. Diakos C, Krapf G, Gerner C, Inthal A, Lemberger C, Ban J, et al. RNAi-mediated silencing of TEL/AML1 reveals a heat-shock protein- and survivin-dependent mechanism for survival. Blood. 2007;109:2607-10 pubmed
    The TEL/AML1 fusion gene results from the most frequent t(12;21)(p13;q22) translocation in childhood acute lymphoblastic leukemia (ALL)...
  9. Silva F, Morolli B, Storlazzi C, Zagaria A, Impera L, Klein B, et al. ETV6 mutations and loss in AML-M0. Leukemia. 2008;22:1639-43 pubmed publisher
  10. Kwiatkowski B, Bastian L, Bauer T, Tsai S, Zielinska Kwiatkowska A, Hickstein D. The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity. J Biol Chem. 1998;273:17525-30 pubmed
    The tel gene, recently shown to be translocated in a spectrum of acute and chronic human leukemias, belongs to the ets family of sequence-specific transcription factors...
  11. Barjesteh van Waalwijk van Doorn Khosrovani S, Spensberger D, de Knegt Y, Tang M, Lowenberg B, Delwel R. Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. Oncogene. 2005;24:4129-37 pubmed
    ETV6 (ets translocation variant gene 6) TEL (translocation ets leukemia), encoding a transcriptional repressor, is involved in various translocations associated with human malignancies...
  12. Poirel H, Oury C, Carron C, Duprez E, Laabi Y, Tsapis A, et al. The TEL gene products: nuclear phosphoproteins with DNA binding properties. Oncogene. 1997;14:349-57 pubmed
    The human TEL gene is involved in several 12p13 chromosomal abnormalities present in various human hematological malignancies, the most frequent being the t(12;21)(p13;q22), specific for childhood acute lymphoblastic leukemia...
  13. Baens M, Peeters P, Guo C, Aerssens J, Marynen P. Genomic organization of TEL: the human ETS-variant gene 6. Genome Res. 1996;6:404-13 pubmed
    ..The markers D12S1095 and D12S89 are located in the first intron. Two new DNA polymorphisms were identified in the ETV6 gene, which will be useful for the analysis of loss of heterozygosity reported for the ETV6 gene in leukemia. ..
  14. Fuka G, Kantner H, Grausenburger R, Inthal A, Bauer E, Krapf G, et al. Silencing of ETV6/RUNX1 abrogates PI3K/AKT/mTOR signaling and impairs reconstitution of leukemia in xenografts. Leukemia. 2012;26:927-33 pubmed publisher
    ..Importantly, these results provide a first rationale and justification for targeting the fusion gene and the PI3K/AKT/mTOR pathway therapeutically. ..
  15. Boccuni P, MacGrogan D, Scandura J, Nimer S. The human L(3)MBT polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6). J Biol Chem. 2003;278:15412-20 pubmed
    ..SAM (sterile alpha motif) protein-protein interaction domain, found in several ETS transcription factors, including TEL (translocation Ets leukemia)...
  16. Wang L, Hiebert S. TEL contacts multiple co-repressors and specifically associates with histone deacetylase-3. Oncogene. 2001;20:3716-25 pubmed
    b>TEL (Translocation-ETS-Leukemia or ETV 6) is disrupted by multiple chromosomal translocations in acute leukemia...
  17. Tognon C, Knezevich S, Huntsman D, Roskelley C, Melnyk N, Mathers J, et al. Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma. Cancer Cell. 2002;2:367-76 pubmed
    ..This represents a recurrent chromosomal rearrangement and expression of a dominantly acting oncogene as a primary event in human breast carcinoma. ..
  18. Schick N, Oakeley E, Hynes N, Badache A. TEL/ETV6 is a signal transducer and activator of transcription 3 (Stat3)-induced repressor of Stat3 activity. J Biol Chem. 2004;279:38787-96 pubmed
    ..We found that TEL (ETV6), a novel Stat3 target identified in this study, is a negative regulator of Stat3 activity...
  19. Nordentoft I, Jørgensen P. The acetyltransferase 60 kDa trans-acting regulatory protein of HIV type 1-interacting protein (Tip60) interacts with the translocation E26 transforming-specific leukaemia gene (TEL) and functions as a transcriptional co-repressor. Biochem J. 2003;374:165-73 pubmed
    The translocation E26 transforming-specific (ETS) leukaemia (TEL), alias the ETS variant (ETV6), gene is expressed in most human tissues and encodes a transcriptional repressor...
  20. Guidez F, Petrie K, Ford A, Lu H, Bennett C, MacGregor A, et al. Recruitment of the nuclear receptor corepressor N-CoR by the TEL moiety of the childhood leukemia-associated TEL-AML1 oncoprotein. Blood. 2000;96:2557-61 pubmed
    ..This rearrangement results in the in frame fusion of the 5'-region of the ETS-related gene, TEL (ETV6), to almost the entire acute myeloid leukemia 1 (AML1) (also called CBFA2 or PEBP2AB1) locus and expression ..
  21. Skalova A, Stenman G, Simpson R, Hellquist H, Slouka D, Svoboda T, et al. The Role of Molecular Testing in the Differential Diagnosis of Salivary Gland Carcinomas. Am J Surg Pathol. 2017;: pubmed publisher
    ..Moreover, they are promising as prognostic biomarkers and targets of therapy...
  22. Balanzá R, Arrangoiz R, Cordera F, Muñoz M, Luque de León E, Moreno E, et al. Mammary analog secretory carcinoma of the parotid gland: A case report and literature review. Int J Surg Case Rep. 2015;16:187-91 pubmed publisher
    ..MASC treatment should mimic the management of other low-grade malignant salivary gland neoplasms. The inhibition of ETV6-NTRK3 gene fusion could be used as treatment in the future. ..
  23. Chang J, Zhang L, Drilon A, Chi P, Alaggio R, Borsu L, et al. Expanding the Molecular Characterization of Thoracic Inflammatory Myofibroblastic Tumors beyond ALK Gene Rearrangements. J Thorac Oncol. 2019;14:825-834 pubmed publisher
    ..We have also described for the first time ALKATI-induced ALK oncogenic activation in IMTs. ..
  24. Akhter A, Mughal M, Elyamany G, Sinclair G, Azma R, Masir N, et al. Multiplexed automated digital quantification of fusion transcripts: comparative study with fluorescent in-situ hybridization (FISH) technique in acute leukemia patients. Diagn Pathol. 2016;11:89 pubmed publisher
    ..Our preliminary observations, mandates further vast validation studies to explore automated molecular platforms in diagnostic pathology. ..
  25. Moriyama T. Familial acute lymphoblastic leukemia. Rinsho Ketsueki. 2016;57:900-9 pubmed publisher
    ..This review focuses on familial ALL caused by the two aforementioned transcriptional factors (PAX5 and ETV6). ..
  26. Fainstein E, Einat M, Gokkel E, Marcelle C, Croce C, Gale R, et al. Nucleotide sequence analysis of human abl and bcr-abl cDNAs. Oncogene. 1989;4:1477-81 pubmed
    ..A bcr-abl construct containing this segment transformed, together with c-myc, RAT-1 cells and produced a highly active tyrosine kinase. ..
  27. Ong B, Li J, McDonough J, Wei Z, Kim C, Chiavacci R, et al. Gene network analysis in a pediatric cohort identifies novel lung function genes. PLoS ONE. 2013;8:e72899 pubmed publisher
    ..In addition, we report the first loci associated with lung function in both pediatric Caucasian and African American populations. ..
  28. De Braekeleer E, Douet Guilbert N, Morel F, LE Bris M, Basinko A, de Braekeleer M. ETV6 fusion genes in hematological malignancies: a review. Leuk Res. 2012;36:945-61 pubmed publisher
    ..It is likely that ETV6 is frequently involved in leukemogenesis because of the large number of partners with which it can rearrange and the several pathogenic mechanisms by which it can lead to cell transformation. ..
  29. Lannon C, Martin M, Tognon C, Jin W, Kim S, Sorensen P. A highly conserved NTRK3 C-terminal sequence in the ETV6-NTRK3 oncoprotein binds the phosphotyrosine binding domain of insulin receptor substrate-1: an essential interaction for transformation. J Biol Chem. 2004;279:6225-34 pubmed
    ..These findings indicate that EN.IRS-1 complex formation through the NTRK3 C terminus is essential for EN transformation. ..
  30. Bauer E, Schlederer M, Scheicher R, Horvath J, Aigner P, Schiefer A, et al. Cooperation of ETV6/RUNX1 and BCL2 enhances immunoglobulin production and accelerates glomerulonephritis in transgenic mice. Oncotarget. 2016;7:12191-205 pubmed publisher
    ..Thus, our study reveals a previously unrecognized synergism between ETV6/RUNX1 and BCL2 impacting on malignant disease and autoimmunity. ..
  31. Martineau M, Jalali G, Barber K, Broadfield Z, Cheung K, Lilleyman J, et al. ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications. Genes Chromosomes Cancer. 2005;43:54-71 pubmed
    ..In comparing our data with previously reported cases, a picture is beginning to emerge of certain diagnostic features, which may provide circumstantial evidence of an increased risk of relapse. ..
  32. Huang T, McHugh J, Berry G, Myers J. Primary mammary analogue secretory carcinoma of the lung: a case report. Hum Pathol. 2018;74:109-113 pubmed publisher
    ..5 cm) MASC ever reported, showed an increased mitotic count (6/10 high-power fields) without high-grade cytology, and presented with advanced-stage disease that included visceral pleural invasion and lymph node metastasis. ..
  33. Rodríguez Hernández G, Hauer J, Martín Lorenzo A, Schäfer D, Bartenhagen C, García Ramírez I, et al. Infection Exposure Promotes ETV6-RUNX1 Precursor B-cell Leukemia via Impaired H3K4 Demethylases. Cancer Res. 2017;77:4365-4377 pubmed publisher
    ..i>Cancer Res; 77(16); 4365-77. ©2017 AACR. ..
  34. Yamamoto H, Yoshida A, Taguchi K, Kohashi K, Hatanaka Y, Yamashita A, et al. ALK, ROS1 and NTRK3 gene rearrangements in inflammatory myofibroblastic tumours. Histopathology. 2016;69:72-83 pubmed publisher
  35. Fazio G, Palmi C, Rolink A, Biondi A, Cazzaniga G. PAX5/TEL acts as a transcriptional repressor causing down-modulation of CD19, enhances migration to CXCL12, and confers survival advantage in pre-BI cells. Cancer Res. 2008;68:181-9 pubmed publisher
    ..The role of these aberrancies is still poorly understood. We previously cloned the PAX5/TEL fusion gene in a patient affected by B-cell precursor ALL with a t(9;12) translocation...
  36. Kawahara A, Taira T, Abe H, Takase Y, Kurita T, Sadashima E, et al. Diagnostic utility of phosphorylated signal transducer and activator of transcription 5 immunostaining in the diagnosis of mammary analogue secretory carcinoma of the salivary gland: A comparative study of salivary gland cancers. Cancer Cytopathol. 2015;123:603-11 pubmed publisher
  37. Church A, Calicchio M, Nardi V, Skalova A, Pinto A, Dillon D, et al. Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy. Mod Pathol. 2017;: pubmed publisher
    ..Modern Pathology advance online publication, 3 November 2017; doi:10.1038/modpathol.2017.127...
  38. Jin Y, Wang X, Hu S, Tang J, Li B, Chai Y. Determination of ETV6-RUNX1 genomic breakpoint by next-generation sequencing. Cancer Med. 2016;5:337-51 pubmed publisher
  39. La Starza R, Barba G, Demeyer S, Pierini V, Di Giacomo D, Gianfelici V, et al. Deletions of the long arm of chromosome 5 define subgroups of T-cell acute lymphoblastic leukemia. Haematologica. 2016;101:951-8 pubmed publisher
    ..In conclusion, interstitial and terminal 5q deletions are recurrent genomic losses identifying distinct subtypes of T-cell acute lymphoblastic leukemia. ..
  40. Kai K, Minesaki A, Suzuki K, Monji M, Nakamura M, Tsugitomi H, et al. Difficulty in the Cytodiagnosis of Mammary Analogue Secretory Carcinoma: Survey of 109 Cytologists with a Case Originating from a Minor Salivary Gland. Acta Cytol. 2017;61:469-476 pubmed publisher
    ..We present a buccal case of MASC along with a survey-based debate about its cytologic diagnosis by fine-needle aspiration (FNA)...
  41. Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 2017;102:282-294 pubmed publisher
  42. Gandemer V, Aubry M, Roussel M, Rio A, de Tayrac M, Vallee A, et al. CD9 expression can be used to predict childhood TEL/AML1-positive acute lymphoblastic leukemia: proposal for an accelerated diagnostic flowchart. Leuk Res. 2010;34:430-7 pubmed publisher
    CD9 has been shown to be differentially expressed in childhood TEL/AML1-positive acute lymphoblastic leukemia (ALL). We confirmed this finding in large Affymetrix data sets and in 80 new cases at both RNA and protein levels...
  43. Rubnitz J, Wichlan D, Devidas M, Shuster J, Linda S, Kurtzberg J, et al. Prospective analysis of TEL gene rearrangements in childhood acute lymphoblastic leukemia: a Children's Oncology Group study. J Clin Oncol. 2008;26:2186-91 pubmed publisher
    To prospectively determine the prognostic significance of the TEL-AML1 fusion in children with acute lymphoblastic leukemia (ALL)...
  44. Sundaresh A, Williams O. Mechanism of ETV6-RUNX1 Leukemia. Adv Exp Med Biol. 2017;962:201-216 pubmed publisher
  45. Meester Smoor M, Janssen M, Ter Haar W, van Wely K, Aarnoudse A, van Oord G, et al. The ETS family member TEL binds to nuclear receptors RAR and RXR and represses gene activation. PLoS ONE. 2011;6:e23620 pubmed publisher
    ..Defects in RAR signaling have been implicated in cancer. TEL, a member of the ETS family of transcription factors, is a DNA-binding transcriptional repressor...
  46. Aljamaan K, Aljumah T, Aloraibi S, Absar M, Iqbal Z. Low Frequency of ETV6-RUNX1 (t 12; 21) in Saudi Arabian Pediatric Acute Lymphoblastic Leukemia Patients: Association with Clinical Parameters and Early Remission. Asian Pac J Cancer Prev. 2015;16:7523-7 pubmed
    ..This shows ethnic differences in genetics of pALL as well as higher frequencies of ETV6-RUNX1 positive pALL mostly in more industrialized countries, probably due to some industrial pollutants or westernized lifestyle. ..
  47. Baghai F, Yazdani F, Etebarian A, Garajei A, Skalova A. Clinicopathologic and molecular characterization of mammary analogue secretory carcinoma of salivary gland origin. Pathol Res Pract. 2017;213:1112-1118 pubmed publisher
    ..In rare cases, however, MASC with high-grade transformation may behave aggressively, and these patients could benefit from targeted biological treatment using tyrosine kinase inhibitors. ..
  48. Gao Y, Zhu X, Yang Y, Wu Y, Lu F, Zhai X, et al. Prevalence of ETV6-RUNX1 fusion gene in children with acute lymphoblastic leukemia in China. Cancer Genet Cytogenet. 2007;178:57-60 pubmed
    ..children newly diagnosed with acute lymphoblastic leukemia (ALL) were examined for the ETV6-RUNX1 (previously TEL-AML1) fusion gene by using a nested reverse transcriptase-polymerase chain reaction...
  49. Bishop J, Taube J, Su A, Binder S, Kazakov D, Michal M, et al. Secretory Carcinoma of the Skin Harboring ETV6 Gene Fusions: A Cutaneous Analogue to Secretory Carcinomas of the Breast and Salivary Glands. Am J Surg Pathol. 2017;41:62-66 pubmed
    ..Secretory carcinoma of the skin represents a phenotypic, immunohistochemical, and genetic counterpart to secretory carcinoma of the breast and salivary glands. This tumor entity is less anatomically restricted than previously supposed. ..
  50. Iqbal Z, Akhtar T, Awan T, Aleem A, Sabir N, Rasool M, et al. High frequency and poor prognosis of late childhood BCR-ABL-positive and MLL-AF4-positive ALL define the need for advanced molecular diagnostics and improved therapeutic strategies in pediatric B-ALL in Pakistan. Mol Diagn Ther. 2015;19:277-87 pubmed publisher
  51. Unnikrishnan A, Guan Y, Huang Y, Beck D, Thoms J, Peirs S, et al. A quantitative proteomics approach identifies ETV6 and IKZF1 as new regulators of an ERG-driven transcriptional network. Nucleic Acids Res. 2016;44:10644-10661 pubmed
    ..At last, we show that ETV6 and IKZF1 expression levels are positively correlated with expression of a number of heptad genes in AML and high expression of all nine genes confers poorer overall prognosis. ..
  52. Brenca M, Rossi S, Polano M, Gasparotto D, Zanatta L, Racanelli D, et al. Transcriptome sequencing identifies ETV6-NTRK3 as a gene fusion involved in GIST. J Pathol. 2016;238:543-9 pubmed publisher
    ..Copyright © 2015 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. ..
  53. Kantner H, Warsch W, Delogu A, Bauer E, Esterbauer H, Casanova E, et al. ETV6/RUNX1 induces reactive oxygen species and drives the accumulation of DNA damage in B cells. Neoplasia. 2013;15:1292-300 pubmed
    ..These elevated ROS favor the accumulation of secondary hits by increasing genetic instability and double-strand breaks, thus allowing preleukemic clones to develop into fully transformed leukemic cells. ..
  54. Zhou M, Gao L, Jing Y, Xu Y, Ding Y, Wang N, et al. Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia. Ann Hematol. 2012;91:1235-43 pubmed publisher
  55. Gaine M, Sharpe D, Smith J, Colyer H, Hodges V, Lappin T, et al. GATA2 regulates the erythropoietin receptor in t(12;21) ALL. Oncotarget. 2017;8:66061-66074 pubmed publisher
    ..Overall our data show that EPOR expression in t(12;21) B-ALL cells, is regulated by GATA2 and is mediated through epigenetic, transcriptional and post-transcriptional mechanisms, contingent upon the genetic subtype of the disease...
  56. Tiensiwakul P. Cloning and sequencing of ETV6/RUNX1 (TEL/AML1) variant in acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2004;149:85-8 pubmed
    ..gene fusion (up to 25%) in childhood acute lymphoblastic leukemia (ALL) is that between ETV6 and RUNX1 (previously TEL and AML1, respectively; we here use the old nomenclature, for ease of reference to the literature)...
  57. Drilon A, Li G, Dogan S, Gounder M, Shen R, Arcila M, et al. What hides behind the MASC: clinical response and acquired resistance to entrectinib after ETV6-NTRK3 identification in a mammary analogue secretory carcinoma (MASC). Ann Oncol. 2016;27:920-6 pubmed publisher
  58. Yokota A, Hirai H, Shoji T, Maekawa T, Okuda K. Constitutively active ABL family kinases, TEL/ABL and TEL/ARG, harbor distinct leukemogenic activities in vivo. Leukemia. 2017;31:2742-2751 pubmed publisher
    ..As with ABL, translocations that fuse ARG to ETV6/TEL have been identified in patients with leukemia...
  59. Zen P, Capra M, Silla L, Loss J, Fernandes M, Jacques S, et al. ETV6/RUNX1 fusion lacking prognostic effect in pediatric patients with acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2009;188:112-7 pubmed publisher
    ..Of the 58 patients, 11 were positive and 47 were negative for the ETV6/RUNX1 fusion (previously known as TEL/AML1)...
  60. Kawagoe H, Grosveld G. MN1-TEL myeloid oncoprotein expressed in multipotent progenitors perturbs both myeloid and lymphoid growth and causes T-lymphoid tumors in mice. Blood. 2005;106:4278-86 pubmed
    The MN1-TEL (meningioma 1-translocation-ETS-leukemia) fusion oncoprotein is the product of the t(12;22)(p13;q11) in human myeloid leukemia consisting of N-terminal MN1 sequences, a transcriptional coactivator, fused to C-terminal TEL ..
  61. Seifert G, Taube T, Paal K, von Einsiedel H, Wellmann S, Henze G, et al. Brief communication: stability and catalytic activity of novel circular DNAzymes. Nucleosides Nucleotides Nucleic Acids. 2006;25:785-93 pubmed
    ..was tested targeting the mRNA of the most common genetic rearrangement in pediatric acute lymphoblastic leukemia TEL/AML1 (ETV6/RUNX1)...
  62. Hotfilder M, Rottgers S, Rosemann A, Jurgens H, Harbott J, Vormoor J. Immature CD34+CD19- progenitor/stem cells in TEL/AML1-positive acute lymphoblastic leukemia are genetically and functionally normal. Blood. 2002;100:640-6 pubmed
    ..CD34+CD19- cells from the bone marrow of 9 children with TEL/AML1-positive ALL were purified by flow sorting and subjected to reverse transcriptase-polymerase chain reaction (..
  63. Wai D, Knezevich S, Lucas T, Jansen B, Kay R, Sorensen P. The ETV6-NTRK3 gene fusion encodes a chimeric protein tyrosine kinase that transforms NIH3T3 cells. Oncogene. 2000;19:906-15 pubmed
    The congenital fibrosarcoma t(12;15)(p13;q25) rearrangement splices the ETV6 (TEL) gene on chromosome 12p13 in frame with the NTRK3 (TRKC) neurotrophin-3 receptor gene on chromosome 15q25...
  64. Skalova A, Vanecek T, Martinek P, Weinreb I, Stevens T, Simpson R, et al. Molecular Profiling of Mammary Analog Secretory Carcinoma Revealed a Subset of Tumors Harboring a Novel ETV6-RET Translocation: Report of 10 Cases. Am J Surg Pathol. 2018;42:234-246 pubmed publisher
    ..The present study comprised a clinical, histologic, and molecular analysis of 10 cases of secretory carcinoma, with typical morphology and immunoprofile harboring a novel ETV6-RET translocation. ..
  65. Kao Y, Fletcher C, Alaggio R, Wexler L, Zhang L, Sung Y, et al. Recurrent BRAF Gene Fusions in a Subset of Pediatric Spindle Cell Sarcomas: Expanding the Genetic Spectrum of Tumors With Overlapping Features With Infantile Fibrosarcoma. Am J Surg Pathol. 2018;42:28-38 pubmed publisher
  66. Lin P, Chang T, Lin S, Chiou S, Jang R, Sheen J. TEL/AML1 fusion gene in childhood acute lymphoblastic leukemia in southern Taiwan. Kaohsiung J Med Sci. 2008;24:289-96 pubmed publisher
    ..chain reaction techniques to detect transcripts of the leukemia-specific chromosome fusion gene, TEL/AML1, and to monitor the expression levels of the TEL-AML1 fusion transcript in ALL patients at sequential ..
  67. Pare G, Kubo M, Byrd J, McCarty C, WOODARD GRICE A, Teo K, et al. Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema. Pharmacogenet Genomics. 2013;23:470-8 pubmed publisher
    ..Variants in MME and genes involved in immune regulation may be associated with ACE inhibitor-associated angioedema. ..
  68. Liang D, Shih L, Yang C, Hung I, Liu H, Jaing T, et al. Frequencies of ETV6-RUNX1 fusion and hyperdiploidy in pediatric acute lymphoblastic leukemia are lower in far east than west. Pediatr Blood Cancer. 2010;55:430-3 pubmed publisher
    Both ETV6-RUNX1 (TEL-AML1) fusion and hyperdiploidy (>50 chromosomes) in transformed lymphoblasts are favorable genetic features in childhood acute lymphoblastic leukemia (ALL)...
  69. Greaves M, Colman S, Kearney L, Ford A. Fusion genes in cord blood. Blood. 2011;117:369-70; author reply 370-1 pubmed publisher
  70. Lee Y, Kim J, Bae S, Rho S, Choe S. Mechanism of transcriptional repression by TEL/RUNX1 fusion protein. Mol Cells. 2004;17:217-22 pubmed
    ..translocation t(12;21)(p12;q22) is one of the most frequent rearrangement in human leukemia, and produces the TEL/RUNX1 fusion protein...
  71. Neveu B, Spinella J, Richer C, Lagacé K, Cassart P, Lajoie M, et al. CLIC5: a novel ETV6 target gene in childhood acute lymphoblastic leukemia. Haematologica. 2016;101:1534-1543 pubmed
    ..Our data suggest that heightened CLIC5 activity could promote a permissive environment for oxidative stress-induced DNA damage accumulation, and thereby contribute to leukemogenesis. ..
  72. Chae H, Kim M, Lim J, Kim Y, Han K, Lee S. B lymphoblastic leukemia with ETV6 amplification. Cancer Genet Cytogenet. 2010;203:284-7 pubmed publisher
    ..Any translocation or mutation involving ETV6 was not detected. This experience strongly supports the hypothesis that the amplification of ETV6 is a possible mechanism of leukeogenesis as oncogene. ..
  73. Lacronique V, Boureux A, Valle V, Poirel H, Quang C, Mauchauffe M, et al. A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science. 1997;278:1309-12 pubmed
    ..acute lymphoblastic leukemia patient was characterized and shown to fuse the 3' portion of JAK2 to the 5' region of TEL, a gene encoding a member of the ETS transcription factor family...
  74. Ko D, Jeon Y, Kang H, Park K, Shin H, Kim H, et al. Native ETV6 deletions accompanied by ETV6-RUNX1 rearrangements are associated with a favourable prognosis in childhood acute lymphoblastic leukaemia: a candidate for prognostic marker. Br J Haematol. 2011;155:530-3 pubmed publisher
  75. Eguchi M. [Role of TEL gene alterations in childhood leukemias]. Rinsho Ketsueki. 2011;52:686-94 pubmed
  76. Reis Filho J, Natrajan R, Vatcheva R, Lambros M, Marchio C, Mahler Araujo B, et al. Is acinic cell carcinoma a variant of secretory carcinoma? A FISH study using ETV6'split apart' probes. Histopathology. 2008;52:840-6 pubmed publisher
    ..Based on the lack of ETV6 rearrangements in ACCs, our results strongly support the concept that SCs and ACCs are distinct entities and should be recorded separately in breast cancer taxonomy schemes. ..
  77. Uemura S, Nishimura N, Hasegawa D, Shono A, Sakaguchi K, Matsumoto H, et al. ETV6-ABL1 fusion combined with monosomy 7 in childhood B-precursor acute lymphoblastic leukemia. Int J Hematol. 2018;107:604-609 pubmed publisher
    ..To our knowledge, this is the first report of ETV6-ABL1 fusion combined with monosomy 7 in childhood BCP-ALL. ..
  78. Morrow M, Horton S, Kioussis D, Brady H, Williams O. TEL-AML1 promotes development of specific hematopoietic lineages consistent with preleukemic activity. Blood. 2004;103:3890-6 pubmed
    ..is the most common chromosomal abnormality yet identified in any pediatric leukemia and gives rise to the TEL-AML1 fusion product...
  79. Yang Y, Yen C, Pai C, Chen H, Yu S, Lin C, et al. A Double Negative Loop Comprising ETV6/RUNX1 and MIR181A1 Contributes to Differentiation Block in t(12;21)-Positive Acute Lymphoblastic Leukemia. PLoS ONE. 2015;10:e0142863 pubmed publisher
  80. Waga K, Nakamura Y, Maki K, Arai H, Yamagata T, Sasaki K, et al. Leukemia-related transcription factor TEL accelerates differentiation of Friend erythroleukemia cells. Oncogene. 2003;22:59-68 pubmed
    b>TEL belongs to a member of the ETS family transcription factors that represses transcription of target genes such as FLI-1...
  81. Obayashi J, Koizumi H, Hoshikawa M, Wakisaka M, Atsuko F, Kitagawa H, et al. A Case of Congenital Infantile Fibrosarcoma of the Bowel Presenting as a Neonatal Intussusception. Pathol Int. 2017;: pubmed publisher
    ..Neonatal intussusception should be suspected to be caused by a neoplasm. If pathological diagnosis is difficult, molecular analysis should be utilized to diagnose congenital infantile fibrosarcoma...
  82. van Zuylen W, Doyon P, Clément J, Khan K, D Ambrosio L, Dô F, et al. Proteomic profiling of the TRAF3 interactome network reveals a new role for the ER-to-Golgi transport compartments in innate immunity. PLoS Pathog. 2012;8:e1002747 pubmed publisher
  83. Mangolini M, de Boer J, Walf Vorderwülbecke V, Pieters R, den Boer M, Williams O. STAT3 mediates oncogenic addiction to TEL-AML1 in t(12;21) acute lymphoblastic leukemia. Blood. 2013;122:542-9 pubmed publisher
    ..Although this rearrangement involves 2 well-characterized transcription factors, TEL and AML1, the molecular pathways affected by the result of the translocation remain largely unknown...
  84. Kong H, Anderson D, Lee C, Jang M, Tamura T, Tailor P, et al. Cutting edge: autoantigen Ro52 is an interferon inducible E3 ligase that ubiquitinates IRF-8 and enhances cytokine expression in macrophages. J Immunol. 2007;179:26-30 pubmed
    ..Together, Ro52 is an E3 ligase for IRF-8 that acts in a non-degradation pathway of ubiquitination, and contributes to the elicitation of innate immunity in macrophages. ..
  85. Marincevic Zuniga Y, Dahlberg J, Nilsson S, Raine A, Nystedt S, Lindqvist C, et al. Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles. J Hematol Oncol. 2017;10:148 pubmed publisher
  86. Kennedy J, Barabé F, Patterson B, Bayani J, Squire J, Barber D, et al. Expression of TEL-JAK2 in primary human hematopoietic cells drives erythropoietin-independent erythropoiesis and induces myelofibrosis in vivo. Proc Natl Acad Sci U S A. 2006;103:16930-5 pubmed
    ..Here we report that expression of TEL-JAK2, a constitutively active variant of the JAK2 kinase, in lineage-depleted human umbilical cord blood cells ..
  87. Tsai Y, Chen W, Siu M, Tsai H, Yin J, Huang J, et al. Epidermal growth factor receptor signaling promotes metastatic prostate cancer through microRNA-96-mediated downregulation of the tumor suppressor ETV6. Cancer Lett. 2017;384:1-8 pubmed publisher
    ..We present a molecular mechanism in which EGFR activation leads to the induction of miR-96 expression and suppression of ETV6, which contributes to prostate cancer progression. ..