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    BIOMARKER:

    TERT 124C>T

    i
    Other names: TERT, Telomerase Reverse Transcriptase, Telomerase-Associated Protein 2, Telomerase Catalytic Subunit, HEST2, EST2, TCS1, TP2, TRT, PFBMFT1, DKCA2, DKCB4, CMM9, HTR
    Entrez ID:
    7015
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    7d
    Patient with mediastinal carcinoma of unknown primary with RET fusion achieves durable response with RET inhibition. (PubMed, Anticancer Drugs)
    The patient was initiated on selpercatinib, which was held after 3 weeks due to thrombocytopenia and hypertension. Pralsetinib was held during adjuvant chemoradiation for the GBM, and again for 4 weeks due to pneumonitis that resolved with steroids, and pralsetinib was restarted at a reduced dose. The patient has since demonstrated a stable reduction of the mediastinal mass for >15 months with RET inhibition therapy, despite several treatment interruptions.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    TP53 (Tumor protein P53) • RET (Ret Proto-Oncogene) • FGFR3 (Fibroblast growth factor receptor 3) • TERT (Telomerase Reverse Transcriptase) • TACC3 (Transforming acidic coiled-coil containing protein 3) • CCDC6 (Coiled-Coil Domain Containing 6)
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    TP53 mutation • RET fusion • FGFR3-TACC3 fusion • FGFR3 mutation • CCDC6-RET fusion • FGFR3 fusion • TERT mutation • TERT 124C>T
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    Retevmo (selpercatinib) • Gavreto (pralsetinib)
    19d
    Predictors of radioiodine (RAI)-avidity restoration for NTRK fusion-positive RAI resistant metastatic thyroid cancers. (PubMed, Eur Thyroid J)
    Case Presentation and We report two cases with RAI-resistant lung metastases treated with larotrectinib: 83-year-old male presenting with an ETV6::NTRK3 fusion-positive tumor with the TERT promoter mutation c.-124C>T, and a 31-year-old female presenting with a TPR::NTRK1 fusion-positive tumor (and negative for TERT promoter mutation)...In contrast, the TERT-negative tumor exhibited successful I-131 reuptake with a TDS of -0.060. As observed for RAI-resistance associated with concurrent TERT and BRAF mutations, the co-occurrence of TERT mutations and NTRK fusions may also contribute to re-sensitization failure.
    Journal • Metastases
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    BRAF (B-raf proto-oncogene) • RET (Ret Proto-Oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • TERT (Telomerase Reverse Transcriptase) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    BRAF mutation • NTRK1 fusion • NTRK3 fusion • RET fusion • TERT mutation • TERT promoter mutation • NTRK1 positive • NTRK3 positive • BRAF mutation + TERT −124C>T • NTRK positive • RET positive • TERT 124C>T • NTRK fusion
    |
    Vitrakvi (larotrectinib)
    5ms
    Tumor-Agnostic Circulating Tumor DNA Testing for Monitoring Muscle-Invasive Bladder Cancer. (PubMed, Int J Mol Sci)
    In conclusion, longitudinal ctDNA analysis using a tumor-agnostic approach is a potential tool for monitoring MIBC patients after RC. The implementation of this testing in a clinical setting could improve disease management and patients' outcomes.
    Journal • Pan tumor • Circulating tumor DNA
    |
    TERT (Telomerase Reverse Transcriptase)
    |
    ATM mutation • TERT mutation • TERT 124C>T
    6ms
    E4F1 and ZNF148 are transcriptional activators of the -57A>C and wild-type TERT promoter. (PubMed, Genome Res)
    Both proteins are activating transcription factors that bind specifically to the -57A>C and wild-type (at position 124) TERT promoter sequence in corresponding cell lines and upregulate TERT transcription and telomerase activity. Our work describes new regulators of TERT gene expression with possible roles in cancer.
    Journal
    |
    TERT (Telomerase Reverse Transcriptase)
    |
    TERT mutation • TERT 124C>T
    6ms
    DNA Methylation-Based Classification of Hairy Cell Leukemia and Splenic B Cell Lymphoma (ASH 2023)
    In summary, we have developed a DNA methylation-based classifier that resolves 4 SBLPN subgroups with distinct molecular features, and reclassifies a subset of SMZL and HCL patients, adding further information to the updated WHO/ICC entities. We reveal distinct biological pathways operating in M-SBLPN subgroups that may aid targeted therapy approaches.
    Epigenetic controller
    |
    BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • TERT (Telomerase Reverse Transcriptase) • IGH (Immunoglobulin Heavy Locus) • NOTCH2 (Notch 2) • CREBBP (CREB binding protein) • BIRC3 (Baculoviral IAP repeat containing 3) • IL2RA (Interleukin 2 receptor, alpha) • SYK (Spleen tyrosine kinase) • IGLL5 (Immunoglobulin Lambda Like Polypeptide 5)
    |
    TP53 mutation • BRAF V600E • BRAF V600 • BIRC3 mutation • TERT mutation • NOTCH2 mutation • TERT promoter mutation • SYK mutation • TERT 124C>T
    9ms
    COMPREHENSIVE WHOLE-GENOME MOLECULAR PROFILING IN BONE AND SOFT TISSUE SARCOMA: MULTI-OMICS ANALYSIS OF 627 CASES ACROSS HISTOLOGIC SUBTYPES (CTOS 2023)
    We elucidated the molecular characteristics of bone and soft tissue sarcomas across histologic subtypes by a multi-omics study.
    Clinical
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • KMT2C (Lysine Methyltransferase 2C) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • TERT 124C>T
    12ms
    An Unusual Case of Papillary Thyroid Carcinoma With Biallelic MEN1 Variants In a Patient With MEN1 (ENDO 2023)
    PTC in MEN1 has been rarely reported in the literature [1]. However, per our knowledge, this is the first report of a PTC with second-hit in the MEN1 gene. Somatic MEN1 pathogenic variants have been reported in occasional cases of thyroid oncocytic tumors and NRAS is more frequently associated with follicular or oncocytic thyroid tumors.
    Clinical
    |
    NRAS (Neuroblastoma RAS viral oncogene homolog) • MEN1 (Menin 1)
    |
    NRAS Q61K • NRAS Q61 • TERT 124C>T
    |
    TruSight Oncology 500 Assay
    1year
    Giant juvenile fibroadenomas with and without prominent pseudoangiomatous stromal hyperplasia (PASH)-like change: clinicopathological and molecular characteristics. (PubMed, Histopathology)
    Gene mutations along more advanced phases of the proposed FEL pathogenetic pathway in GJFA are unusual, and suggest a mechanism for more aggressive growth in these tumours.
    Journal • Stroma
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog) • AR (Androgen receptor) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • BCOR (BCL6 Corepressor) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CD34 (CD34 molecule) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1)
    |
    TP53 mutation • RB1 mutation • TERT mutation • TERT promoter mutation • MAP3K1 mutation • PGR expression • SETD2 mutation • CTNNB1 expression • TERT 124C>T
    1year
    TERT Promoter Mutation c.-124C>T Commonly Occurs in Low-Grade Fibromatosis-like Metaplastic Breast Carcinoma. (PubMed, Arch Pathol Lab Med)
    In conjunction with previous data of metaplastic (spindle cell) carcinoma with and without fibromatosis-like morphology, FLMC is most likely distinguished by TERT promoter mutation. Thus, our data support the notion of a distinct subgroup within low-grade metaplastic breast cancer with spindle cell morphology and associated TERT mutations.
    Journal • Tumor mutational burden
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
    |
    TP53 mutation • PIK3CA mutation • TP53 wild-type • TMB-L • CDKN2A mutation • MTOR mutation • TERT mutation • PIK3R1 mutation • TERT promoter mutation • TERT 124C>T
    over1year
    Molecular Characterization of Well Differentiated Squamous Cell Carcinoma with Verrucoid Features, So-Called Barnaculate Carcinoma: Identification of Mutations in Promoter Region of Telomerase Reverse Transcriptase (TERT) And HRAS gene (USCAP 2023)
    Although the findings are preliminary due to limited case numbers, the identification of these mutations may be a useful adjunct to the diagnosis of barnaculate carcinoma. Additional studies including more cases will be needed to validate the study results and identify tumorigenic roles and clinical significance of these mutations.
    HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase)
    |
    TERT mutation • TERT promoter mutation • TERT 124C>T
    |
    Oncomap™ ExTra test
    almost2years
    TERT Promoter Mutations and Telomerase in Melanoma. (PubMed, J Oncol)
    Recently, it has been shown that TERT promoter mutations are more correlated with the occurrence, development, invasion, and metastasis of melanoma, as well as emerging approaches such as the therapeutic potential of chemical inhibition of TERT promoter mutations, direct telomerase inhibitors, combined targeted therapy, and immunotherapies. In this review, we describe the latest advances in the role of TERT promoter mutations and telomerase in promoting the occurrence, development, and poor prognosis of melanoma and discuss the clinical significance of the TERT promoter and telomerase in the treatment of melanoma.
    Review • Journal • Tumor Mutational Burden • IO biomarker
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    TMB (Tumor Mutational Burden) • TERT (Telomerase Reverse Transcriptase)
    |
    TERT mutation • TERT promoter mutation • TERT 124C>T
    2years
    Wilms tumor and pure erythroid leukemia arising from the same clone in an adolescent (AACR 2022)
    Kidney and hematopoietic tissue both arise from the embryonic mesoderm suggesting that the earliest alterations occurred in this tissue. The contribution of each shared pathogenic variant (TERT, BRCA2, 17p loss) to tumorigenesis and the role of chemotherapy in PEL development are still under investigation.
    BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PDE4DIP (Phosphodiesterase 4D Interacting Protein)
    |
    TERT 124C>T
    almost3years
    [VIRTUAL] Characterization of Medulloblastomas Presenting as Primary Leptomeningeal Involvement: Case Report and Literature Review (AANP 2021)
    GAB1 and YAP1 staining were inconclusive, but not inconsistent with SHH activation. Outcomes from additional cases are required to further evaluate the significance of these molecular findings in relation to this unique presentation.
    Clinical • Review
    |
    TP53 (Tumor protein P53) • TNFRSF8 (TNF Receptor Superfamily Member 8) • YAP1 (Yes associated protein 1) • NKX2-1 (NK2 Homeobox 1) • SYP (Synaptophysin) • CHGA (Chromogranin A)
    |
    TP53 mutation • TERT 124C>T
    3years
    High frequency of PIK3CA and TERT promoter mutations in fibromatosis-like spindle cell carcinomas. (PubMed, J Clin Pathol)
    Our study showed that PIK3CA and TERT promoter mutations were common genetic features of FLSCCs. These findings contribute to our understanding of FLSCCs biology.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TERT (Telomerase Reverse Transcriptase)
    |
    PIK3CA mutation • PIK3CA H1047R • TERT mutation • TERT promoter mutation • TERT 124C>T
    |
    FoundationOne® CDx
    over3years
    [VIRTUAL] A Rare Case of Aggressive Ectopic Thyroid Cancer in a Patient With Graves Disease (ENDO 2021)
    Without specific guidelines for the management of cancer in ectopic thyroids, an individualised approach can be taken using the same therapeutic principals used in the management of eutopic thyroid cancer. Additionally, a finding of a normal thyroid gland or a benign condition in the thyroid gland should not exclude the diagnosis of malignancy in ectopic thyroid tissues.
    Clinical
    |
    BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase) • XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor)
    |
    BRAF V600E • BRAF V600 • TERT mutation • TERT 124C>T