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    BIOMARKER:

    ETV6 mutation

    i
    Other names: ETV6, ETS Variant Transcription Factor 6, ETS Variant 6, Ets Variant Gene 6 (TEL Oncogene), ETS Translocation Variant 6, Transcription Factor ETV6, ETS-Related Protein Tel1, TEL, TEL1 Oncogene, TEL Oncogene, TEL/ABL, THC5, TEL1, Tel
    Entrez ID:
    2120
    Related biomarkers:
    CNA
    Fusion
    1year
    Increased Cadmium Load, Vitamin D Deficiency, and Elevated FGF23 Levels as Pathophysiological Factors Potentially Linked to the Onset of Acute Lymphoblastic Leukemia: A Review. (PubMed, J Pers Med)
    ALL has been observed in both IDA and thalassemia. However, as IDA is the most common type of anemia and the majority of published data pertains to it, we will focus on IDA in this review.
    Review • Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • FGF23 (Fibroblast Growth Factor 23)
    |
    ETV6 mutation
    1year
    Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL. (PubMed, Hemasphere)
    However, we observed a subgroup of patients classified as BN2, both in localized and disseminated TLBCL, suggesting a degree of genetic heterogeneity in the TLBCL genetic profile. TLBCL has a distinctive genetic profile similar to PCNSL, supporting its recognition as a separate entity from DLBCL and might provide information to devise targeted therapeutic approaches.
    Journal • IO biomarker
    |
    BCL2 (B-cell CLL/lymphoma 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • BCL6 (B-cell CLL/lymphoma 6) • ETV6 (ETS Variant Transcription Factor 6) • CD79B (CD79b Molecule) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • EP300 (E1A binding protein p300) • PIM1 (Pim-1 Proto-Oncogene) • NODAL (Nodal Growth Differentiation Factor) • TBL1XR1 (TBL1X Receptor 1)
    |
    CDKN2A deletion • MYD88 L265P • MYC rearrangement • BCL6 rearrangement • BCL2 rearrangement • ETV6 mutation
    1year
    Landscape of biallelic DNMT3A mutant myeloid neoplasms. (PubMed, J Hematol Oncol)
    Longitudinal molecular analysis of 12 cases with biallelic DNMT3AMT demonstrated that such clones persisted or expanded in 9 relapsed or transformed cases (75%) suggesting the early origin of biallelic hits with strong leukemogenic potential. Our study describes the likelihood that biallelic DNMT3AMT, while rare, are indeed compatible with clonal expansion and thus questions the applicability of synthetic lethality strategies.
    Retrospective data • Journal
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    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • ETV6 (ETS Variant Transcription Factor 6)
    |
    DNMT3A mutation • DNMT3A R882 • ETV6 mutation
    1year
    Molecular Analysis of Renal/Adrenal Angiosarcomas Reveals High Frequency of Recurrent Genetic Alterations. (PubMed, Genes Chromosomes Cancer)
    In summary, angiosarcomas of the kidney and adrenal gland have a high frequency of recurrent genetic alterations, some of them being shared with other angiosarcoma subtypes, while other appear to be novel. In particular, activating hot spot KDR and PIK3CA mutations represent potential therapeutic targets for these highly aggressive cancers.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KDR (Kinase insert domain receptor) • ETV6 (ETS Variant Transcription Factor 6) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)
    |
    PIK3CA mutation • BRIP1 mutation • ETV6 mutation
    over1year
    Whole genome sequencing reveals the mutational landscape from disease diagnosis to relapse in patients with childhood acute myeloid leukaemia. (PubMed, Malays J Pathol)
    This study has uncovered the mutational landscape in three local childhood AML patients and contributes to a better understanding of the molecular mechanisms of relapsed AML.
    Journal
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • ETV6 (ETS Variant Transcription Factor 6) • RBM10 (RNA Binding Motif Protein 10) • ZMYM4 (Zinc Finger MYM-Type Containing 4) • CDC73 (Cell Division Cycle 73) • HNF1A (HNF1 Homeobox A)
    |
    KIT mutation • ETV6 mutation
    almost2years
    Short-term Effect of Venetoclax Combined with Azacitidine and "7+3" Regimen in the Treatment of Newly Diagnosed Elder Patients with Acute Myeloid Leukemia (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
    The short-term effect of VEN+AZA group and "7+3" regimens in eldrly AML patients are similar， but the VEN+AZA regimen had a lower incidence of infection. The presence of chromosome 7 abnormality（7q-/-7） may be a poor prognostic factor for elderly AML patients treated with VEN+AZA.
    Journal
    |
    ETV6 (ETS Variant Transcription Factor 6)
    |
    ETV6 mutation
    |
    Venclexta (venetoclax) • azacitidine
    almost2years
    The genetic and immune features of salivary gland secretory carcinoma with high-grade transformation. (PubMed, Oral Dis)
    Our findings reveal novel gene alterations involved in the progression of HGT in SCs. Most HGT SCs patients cannot benefit from PD-L1 blocking and may be approached with a distinct treatment strategy including the lymph node dissection and application of molecular target drugs in precision oncology.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    RET (Ret Proto-Oncogene) • ARID1A (AT-rich interaction domain 1A) • NRG1 (Neuregulin 1) • CD8 (cluster of differentiation 8) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • NOTCH3 (Notch Receptor 3) • GATA6 (GATA Binding Protein 6)
    |
    PD-L1 expression • ARID1A mutation • RET mutation • NOTCH3 mutation • MLL mutation • ETV6 mutation
    almost2years
    Analysis of gene mutation characteristics and its correlation with prognosis in patients with myelodysplastic syndromes. (PubMed, Clin Chim Acta)
    Additionally, the study developed a risk score based on gene mutation data that demonstrated robust predictive capability and stability for the overall survival of MDS patients. Our research provided a strong theoretical basis for the establishment of personalized treatment and prognostic risk assessment models for Chinese MDS patients.
    Journal
    |
    TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • ETV6 (ETS Variant Transcription Factor 6) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
    |
    TP53 mutation • DNMT3A mutation • ASXL1 mutation • SF3B1 mutation • U2AF1 mutation • ETV6 mutation
    2years
    Genomic Correlates of Radiosensitivity in Diffuse Large B Cell Lymphoma (ASH 2023)
    Its role in DLBCL is not well defined, with preclinical studies suggesting a distinct role compared to leukemias. Due to the limited sample size, these findings are hypothesis generating and warrant further study with larger, prospective cohorts to validate the ability of genomic signatures to predict RT response.
    TP53 (Tumor protein P53) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • ETV6 (ETS Variant Transcription Factor 6) • KMT2D (Lysine Methyltransferase 2D) • TNFAIP3 (TNF Alpha Induced Protein 3) • PIM1 (Pim-1 Proto-Oncogene)
    |
    ETV6 mutation
    |
    MSK-IMPACT
    2years
    Single-Cell Genomics and Proteomics Reveals Venetoclax-Resistant Monocytic Differentiation of TP53 LOH Clones in TP53 Mutant AML (ASH 2023)
    Patients 1 and 3 received treatment with CD47AB (Magrolimab), 5'-Azacitidine (Aza), and Venetoclax (Ven); Patient 2 received IMGN632 (CD123-targeting ADC), Aza and Ven. Patient 4 received p97 Inhibitor CB-5339; Patient 5 received CD47 inhibitor (ALX148), Aza, Ven... This study establishes a genotype-phenotype connection through single-cell proteogenomic profiling of TP53-mutated AML, describing the clonal evolution and immunophenotypic dynamics during treatment while proposing a potential mechanism of resistance.
    IO biomarker
    |
    TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CD8 (cluster of differentiation 8) • ETV6 (ETS Variant Transcription Factor 6) • BCL2L1 (BCL2-like 1) • CD123 (Interleukin 3 Receptor Subunit Alpha) • CD33 (CD33 Molecule) • CD34 (CD34 molecule) • CD36 (thrombospondin receptor) • CD14 (CD14 Molecule) • CD68 (CD68 Molecule) • EIF4EBP1 (Eukaryotic translation initiation factor 4E binding protein 1) • ITGAM (Integrin, alpha M) • IL3RA (Interleukin 3 Receptor Subunit Alpha)
    |
    TP53 mutation • IDH1 R132 • ETV6 mutation • IDH1 R132L
    |
    Venclexta (venetoclax) • azacitidine • magrolimab (ONO-7913) • evorpacept (ALX148) • pivekimab sunirine (PVEK) • CB-5339
    2years
    Influence of Co-Mutational Patterns in Disease Phenotype and Clinical Outcomes of Chronic Myelomonocytic Leukemia (ASH 2023)
    These data suggest that somatic mutations in CMML have unique patterns of clustering that define disease phenotype and influence disease outcomes.
    Clinical • Clinical data
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • ETV6 (ETS Variant Transcription Factor 6) • SRSF2 (Serine and arginine rich splicing factor 2) • WT1 (WT1 Transcription Factor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • SETBP1 (SET Binding Protein 1) • BCORL1 (BCL6 Corepressor Like 1)
    |
    TP53 mutation • BRAF mutation • NRAS mutation • DNMT3A mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation • EZH2 mutation • CBL mutation • SRSF2 mutation • U2AF1 mutation • CEBPA mutation • WT1 mutation • Chr del(7q) • ETV6 mutation