^
Contact us  to learn more about
our Premium Content:  News alerts, weekly reports and conference planners
BIOMARKER:

TERT promoter mutation

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:
Related biomarkers:
3d
Papillary thyroid carcinoma tall cell subtype (PTC-TC) and high-grade differentiated thyroid carcinoma tall cell phenotype (HGDTC-TC) have different clinical behaviour: a retrospective study of 1456 patients. (PubMed, Histopathology)
Compared with PTC-TC, HGDTC-TC is associated with adverse clinicopathological features, a higher frequency of TERT promoter mutations (59% in HGDTC-TC versus 34% in PTC-TC) and incurs a significantly worse prognosis. HGDTC-TC is an independent prognostic factor for carcinoma with tall cell morphology. This validates the concept of HGDTC and the importance of tumour necrosis and high mitotic count for accurate diagnosis and prognosis of differentiated thyroid carcinomas.
Retrospective data • Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
4d
NAB2::STAT6 fusions and genome-wide DNA methylation profiling: Predictors of patient outcomes in meningeal solitary fibrous tumors. (PubMed, Brain Pathol)
In summary, NAB2::STAT6 fusion type was significantly associated with MFS and DSS, suggesting that tumors with an ex5::ex16-17 fusion may have inferior patient outcomes. Methylation clusters were significantly associated with fusion type, TERT promoter mutation status, histologic phenotype, and MFS.
Journal • Epigenetic controller
|
TERT (Telomerase Reverse Transcriptase) • STAT6 (Signal transducer and activator of transcription 6) • NAB2 (NGFI-A Binding Protein 2)
|
TERT mutation • TERT promoter mutation
10d
Predicting the prognosis of glioma patients with TERT promoter mutations and guiding the specific immune profile of immune checkpoint blockade therapy. (PubMed, Aging (Albany NY))
TIDE analysis indicated that immune checkpoint blockade (ICB) therapy may benefit glioma patients with TERTp mutations. The present risk model can help predict prognosis of glioma patients with TERTp mutations and aid ICB treatment options.
Journal • Checkpoint inhibition • Checkpoint block
|
TERT (Telomerase Reverse Transcriptase) • WT1 (WT1 Transcription Factor) • CD70 (CD70 Molecule) • CD4 (CD4 Molecule) • HOXC6 (Homeobox C6)
|
TERT mutation • TERT promoter mutation
14d
Ph I/II Study of NMS-03305293+TMZ in Adult Patients With Recurrent Glioblastoma (clinicaltrials.gov)
P1/2, N=150, Recruiting, Nerviano Medical Sciences | N=75 --> 150
Enrollment change
|
EGFR (Epidermal growth factor receptor) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase)
|
EGFR mutation • EGFR amplification • MGMT promoter methylation • TERT mutation • IDH wild-type • TERT promoter mutation
|
temozolomide • NMS-293
15d
In-house molecular diagnosis of diffuse glioma updating the revised WHO classification by a platform of the advanced medical care system, Senshin-Iryo. (PubMed, Neuropathology)
Among the remaining 16 patients, only four (7.4%) were diagnosed with diffuse glioma, not elsewhere classified, which was excluded in 12 cases where glioblastoma was confirmed by histopathological diagnosis. Our Senshin-Iryo trial functioned as a salvage system to overcome the transition period between continued revisions of WHO classification that has caused a clinical dilemma in the Japanese healthcare system.
Journal • Metastases
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase)
|
BRAF mutation • TERT mutation • TERT promoter mutation
17d
Complex phenotypic heterogeneity of combined hepatocellular-cholangiocarcinoma with a homogenous TERT promoter mutation. (PubMed, Am J Transl Res)
Such phenotypic intercomponent heterogeneity and intracomponent microheterogeneity were detected in a tumor nodule of cHCC-CCA uniformly carrying the early HCC driver mutation. Moreover, poor prognostic markers were randomly expressed without a regular pattern, consistent with the poor prognosis.
Journal
|
TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
21d
Risk stratification for radioactive iodine refractoriness using molecular alterations in distant metastatic differentiated thyroid cancer. (PubMed, Chin J Cancer Res)
Molecular alterations were associated with RAI refractoriness, with BRAF and TERT promoter mutations being the predominant contributors, followed by TP53 and DICER1 mutations. MRS might serve as a valuable tool for both prognosticating clinical outcomes and directing precision-based therapeutic interventions.
Journal • Metastases
|
BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • RET (Ret Proto-Oncogene) • TERT (Telomerase Reverse Transcriptase) • DICER1 (Dicer 1 Ribonuclease III)
|
TP53 mutation • BRAF mutation • RET fusion • TERT mutation • TERT promoter mutation
24d
Molecular GBM versus Histopathological GBM: Radiology-Pathology-Genetic Correlation and the New WHO 2021 Definition of Glioblastoma. (PubMed, AJNR Am J Neuroradiol)
Despite at an early stage, there is active ongoing research on the unique MRI features of molecular GBM. This paper highlights the differences between "molecular" and "histopathological" GBM, with the aim of providing a basic understanding about these changes.ABBREVIATIONS: GBM=Glioblastoma; TERT=telomerase reverse transcriptase; EGFR=epidermal growth factor receptor; MGMT= methylguanine-DNA methyltransferase; NGS= next-generation sequencing; IDH= isocitrate dehydrogenase.
Journal
|
EGFR (Epidermal growth factor receptor) • TERT (Telomerase Reverse Transcriptase)
|
EGFR mutation • EGFR amplification • TERT mutation • IDH wild-type • TERT promoter mutation
30d
Latest Developments in Magnetic Resonance Imaging for Evaluating the Molecular Microenvironment of Gliomas. (PubMed, Curr Med Imaging)
The integration of structural and functional Magnetic Resonance Imaging (MRI) techniques may play a vital role in evaluating these genetic phenotypes, offering insights into tumor microenvironment changes. This multimodal approach may enhance diagnostic precision, aid in treatment planning, and facilitate effective prognosis evaluation of glioma patients.
Journal • MRI
|
EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler)
|
EGFR mutation • EGFR amplification • TERT mutation • IDH wild-type • TERT promoter mutation
1m
Adult epithelioid glioblastoma exhibits an extremely poor prognosis and high frequency of SWI/SNF complex mutation: Insights from a retrospective study. (PubMed, Int J Cancer)
Adult eGBM carried a dismal prognosis compared to GBM with IDH and H3 wild-type (typical GBM) (OS: 13.89 vs 24.30 months; P = .003) and even typical GBM without MGMT promoter methylation (OS: 13.89 vs 22.08 months; P = .036). Based on these findings, it can be concluded that adult eGBM harbors a high frequency of the 7+/10- signature and alterations in the MAPK pathway, SWI/SNF complex and cyclin-related genes and portends an extremely poor prognosis.
Retrospective data • Journal
|
BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ARID1B (AT-Rich Interaction Domain 1B)
|
BRAF V600E • BRAF V600 • CDKN2A deletion • MGMT promoter methylation • CDK4 amplification • TERT mutation • ARID1B mutation • TERT promoter mutation • BRAF amplification
1m
Genetic landscape of 482 thyroid carcinomas: analysis with the national datacenter for cancer genomic medicine in Japan. (PubMed, Endocrine)
PTC was the most common histologic type of TC for which genetic profiling was performed in Japan, followed by ATC. Since the most common targetable mutation is the BRAF mutation, practical application of BRAF-targeted therapy can be an important treatment option for Japanese patients with TC.
Journal
|
KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RET (Ret Proto-Oncogene) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase)
|
BRAF V600E • KRAS mutation • BRAF V600 • RET mutation • HRAS mutation • TERT mutation • TERT promoter mutation
|
FoundationOne® CDx
1m
Sub-region based radiomics analysis for prediction of isocitrate dehydrogenase and telomerase reverse transcriptase promoter mutations in diffuse gliomas. (PubMed, Clin Radiol)
The present study underscores the potential of sub-regional radiomics analysis in predicting IDH and TERT promoter mutations in glioma patients. These models have the capacity to refine preoperative glioma diagnosis and contribute to personalised therapeutic interventions for patients.
Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
1m
Prevalence of TERT Promoter Mutations in Orbital Solitary Fibrous Tumors. (PubMed, Curr Issues Mol Biol)
The prevalence of the TERT promoter mutation in oSFT was 11%, which is similar to the prevalence of extra-meningeal SFTs of the head and neck and lower than that in other extra-meningeal compartments. In the present study, the TERT promoter mutation in oSFT manifested in a case with an unfavorable prognosis, comprising aggressive local tumor growth, local recurrence, and eye loss.
Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
1m
Tumor Microenvironment and Genomic Profiling of Squamous Cell Carcinomas of the Breast (USCAP 2024)
About half of the breast SCCs exhibited high sTILs and positive PD-L1 expression, which indicated the potential opportunity for immunotherapy. Genomic profile revealed clinically meaningful alterations that might guide targeted treatment decisions in SCC patients.
Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • TERT (Telomerase Reverse Transcriptase) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PD-L1 expression • TP53 mutation • TMB-H • PIK3CA mutation • PTEN deletion • PTEN mutation • PD-L1 negative • TERT mutation • PIK3CA mutation + PTEN mutation • PIK3R1 mutation • TERT promoter mutation
|
PD-L1 IHC 22C3 pharmDx
1m
New trial
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
1m
Risk factors for recurrent disease after resection of solitary fibrous tumor: a systematic review. (PubMed, Front Surg)
The Demicco risk stratification system is the most validated and widely used, however the G-score model may appear to be superior due to longer follow-up time. CRD42023421358.
Review • Journal
|
TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • STAT6 (Signal transducer and activator of transcription 6) • APAF1 (Apoptotic peptidase activating factor 1) • NAB2 (NGFI-A Binding Protein 2)
|
TERT mutation • TP53 expression • TERT promoter mutation
1m
Risk stratification by combining common genetic mutations and TERT promoter methylation in papillary thyroid cancer. (PubMed, Endocrine)
This study suggested that comprehensively analysis of BRAF/RAS mutations, TERT promoter mutation and methylation is an effective strategy to identify high-risk patients with PTC.
Journal
|
BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase) • RAS (Rat Sarcoma Virus)
|
BRAF mutation • RAS mutation • TERT mutation • TERT promoter mutation
2ms
HBV DNA Integration into Telomerase or MLL4 Genes and TERT Promoter Point Mutation as Three Independent Signatures in Subgrouping HBV-Related HCC with Distinct Features. (PubMed, Liver Cancer)
This new classification was also validated in another independent cohort. A simple and robust genetic classification was developed to aid in understanding HBV-HCC and in harmonizing clinical studies.
Journal • IO biomarker
|
TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D)
|
TERT mutation • TERT promoter mutation
2ms
Landscape and Saturation Analysis of Mutations Associated With Race in Cancer Genomes by Clinical Sequencing. (PubMed, Oncologist)
Down-sampling analyses indicate that larger sample sizes are likely to discover more race-associated mutations. These results provide a resource to understand differences in cancer genomes between racial groups which may inform the design of clinical studies and patient recruitment strategies in biomarker trials.
Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
2ms
TERT Promoter Methylation Is Oxygen-Sensitive and Regulates Telomerase Activity. (PubMed, Biomolecules)
In conclusion, we have demonstrated that DNMT3B directly associates with TERT promoter, is associated with differentiation-linked TERT downregulation, and displays oxygen sensitivity. Taken together, these findings help identify novel aspects of telomerase regulation that may play a role in better understanding developmental regulation and potential targets for therapeutic intervention.
Journal
|
TERT (Telomerase Reverse Transcriptase) • DNMT3B (DNA Methyltransferase 3 Beta)
|
TERT mutation • TERT promoter mutation
2ms
De Ritis ratio in elderly glioblastoma patients treated with chemoradiation: A comprehensive analysis of serum biomarkers. (PubMed, Neurooncol Adv)
We aimed to comprehensively investigate the prognostic value of pretreatment laboratory parameters in elderly patients with glioblastoma treated with temozolomide (TMZ)-based chemoradiation...In multivariate analysis, KPS ≥ 70, MGMT promoter methylation, extent of resection greater than partial resection, De Ritis ratio < 1.2, and glucose level < 150 mg/dL were significant prognostic factors for improved OS. Along with well-known prognostic factors, pre-RT serum biomarkers, including the De Ritis ratio and glucose level, also had prognostic value in elderly patients with glioblastoma treated with TMZ-based chemoradiation.
Journal
|
EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase)
|
TP53 mutation • EGFR mutation • EGFR amplification • MGMT promoter methylation • TERT mutation • IDH wild-type • TERT promoter mutation • TERT amplification
|
temozolomide
2ms
The Role of 5-Hydroxymethylcytosine as a Potential Epigenetic Biomarker in a Large Series of Thyroid Neoplasms. (PubMed, Endocr Pathol)
However, despite the merits of these discoveries, we acknowledge that 5hmC currently cannot segregate minimally invasive from widely invasive tumors, although 5hmC levels were lower in wi-FPTCs. Further research is needed to explore the potential clinical implications of 5hmC in thyroid tumors.
Journal
|
HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • RAS (Rat Sarcoma Virus)
|
HRAS mutation • TERT mutation • TERT promoter mutation
2ms
Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing. (PubMed, Int J Endocrinol)
The size of the tumor has a significant correlation with its aggressive characteristics. PTMC with a diameter of ≤5 mm should be distinguished and targeted as a unique subset for specialized treatment.
Journal • Next-generation sequencing
|
KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • NCOA4 (Nuclear Receptor Coactivator 4)
|
BRAF V600E • KRAS mutation • NRAS mutation • BRAF V600 • RET mutation • RET rearrangement • RET-PTC1 rearrangement • TERT mutation • TERT promoter mutation
2ms
Clinicopathological and Molecular Characteristics of IDH-Wildtype Glioblastoma with FGFR3::TACC3 Fusion. (PubMed, Biomedicines)
Our observations suggest that F3T3-positive GBM is a distinct molecular subgroup of the IDH-wildtype GBM. Both clinicians and pathologists should consider this rare entity in the differential diagnosis of diffuse astrocytic glioma to make an accurate diagnosis and to ensure appropriate therapeutic management.
Journal
|
EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • FGFR3 (Fibroblast growth factor receptor 3) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • TERT (Telomerase Reverse Transcriptase) • TACC3 (Transforming acidic coiled-coil containing protein 3) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
|
TP53 mutation • EGFR mutation • EGFR amplification • PTEN mutation • MDM2 amplification • CDKN2A deletion • CDKN2A mutation • CDK4 amplification • FGFR3 fusion • TERT mutation • IDH wild-type • TERT promoter mutation • CDK4 mutation
2ms
Prognostic analysis of extrameningeal solitary fibrous tumor using the modified Demicco model: a clinicopathologic study of 111 Chinese cases. (PubMed, Front Oncol)
The mDemicco risk model exhibits certain limitations when dealing with smaller tumor sizes, younger age groups, and occurrences of malignant and dedifferentiated SFTs. Furthermore, molecular factors, such as TP53 or TERT promoter mutations, may identify intermediate-risk SFTs with poorer prognoses.
Journal
|
TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • STAT6 (Signal transducer and activator of transcription 6) • NAB2 (NGFI-A Binding Protein 2)
|
TP53 mutation • TERT mutation • TERT promoter mutation
2ms
Reliable detection of genetic alterations in cyst fluid DNA for the diagnosis of brain tumors. (PubMed, J Neurooncol)
Cell-free DNA obtained from cyst fluid in cystic brain tumors is a reliable alternative to tumor DNA when diagnosing brain tumors.
Journal
|
EGFR (Epidermal growth factor receptor) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase)
|
EGFR amplification • IDH1 R132H • TERT mutation • IDH1 R132 • TERT promoter mutation
2ms
TERT promoter mutations in atypical melanocytic lesions: A series of seven cases with adverse melanoma-specific outcome. (PubMed, Hum Pathol)
Sequencing of the TERT-p region showed hotspot mutations in three cases (43 %), suggesting that TERT-p mutations are enriched and could aid in the identification of AMPs with adverse outcome. In comparison with existing ancillary techniques for prognostication of AMPs, TERT-p mutation analysis may have advantages in terms of cost effectiveness and turnaround time, and is a promising diagnostic parameter with potential widespread utility.
Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
3ms
Prognostic and predictive biomarkers in paediatric solid tumours. (PubMed, Pathology)
The prognosis of rhabdomyosarcoma, for example, primarily depends on histological and molecular characteristics. Advances in our understanding of clinically significant biomarkers will translate into more precise diagnoses, improved risk stratification and more effective and less toxic treatment in this challenging group of patients.
Review • Journal
|
TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2)
|
TP53 mutation • MYCN amplification • CTNNB1 mutation • NFE2L2 mutation • TERT mutation • TERT promoter mutation
3ms
Association of Ultrasonography Features of Follicular Thyroid Carcinoma With Tumor Invasiveness and Prognosis Based on WHO Classification and TERT Promoter Mutation. (PubMed, Korean J Radiol)
Increasing tumor invasiveness and worsening prognosis in FTC based on the WHO classification and TERT promoter mutation results were positively correlated with US features that indicate malignant probability according to both K-TIRADS and ACR-TIRADS.
Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
3ms
Intragenic EGFR::EGFR.E1E8 Fusion (EGFRvIII) in 4331 Solid Tumors. (PubMed, Cancers (Basel))
In summary, EGFRvIII is rare, occurring primarily in glioblastoma and rarely in breast sarcomatoid neoplasm, with no instances identified in other tumor types in our series. This select group of patients may benefit from chemotherapy and/or targeted anti-EGFR therapy.
Journal
|
EGFR (Epidermal growth factor receptor) • TERT (Telomerase Reverse Transcriptase)
|
EGFR amplification • TERT mutation • IDH wild-type • TERT promoter mutation • EGFR fusion
3ms
The Diagnostic Utility of Repeat Fine-needle Aspirations of Benign Thyroid Nodules. (PubMed, Eur Thyroid J)
The total cost for workup of previously benign nodules was $285,454. Conclusions Repeat FNA biopsies did not provide an additional diagnostic value in the evaluation of benign thyroid nodules, and often led to unwarranted follow-up procedures and significantly increased health care cost.
Journal
|
RET (Ret Proto-Oncogene) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase)
|
RET fusion • HRAS mutation • TERT mutation • TERT promoter mutation
3ms
Current Concepts and Challenges in Endocrine Pathology - Xu (USCAP 2024)
Immunohistochemistry: - Positive for p40, cytokeratin AE1:AE3, CD5 (rare cells), synaptophysin (rare cells) - Negative for NUT, PAX8, TTF-1, chromogranin, thyroglobulin, calcitonin - Ki67 proliferation index: 50% Figure 1 Caption: Click the link below to view the virtual slide. Figure 1 Virtual Slide: https://conferences.aiforia.com/Public/USCAP/5HyBcnwzXnmll15SJfRYhCjUGyovFRoosTAMilaU4Oo0 Figure 2: Click to view full size Figure 2 Caption: Cytokeratin AE1/AE3 Figure 3: Click to view full size Figure 3 Caption: P40 Figure 4: Click to view full size Figure 4 Caption: CD5 Figure 5: Click to view full size Figure 5 Caption: Synaptophysin
BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase) • CD5 (CD5 Molecule) • NKX2-1 (NK2 Homeobox 1) • PAX8 (Paired box 8) • SYP (Synaptophysin)
|
BRAF V600E • TERT mutation • TERT promoter mutation
|
Afirma® Genomic Sequencing Classifier
3ms
Clinical, histological, and molecular differences in melanoma due to different TERT promoter mutations subtypes. A retrospective cross-sectional study in 684 melanoma patients. (PubMed, Pigment Cell Melanoma Res)
These findings confirmed that the -124C > T and the tandem -138_139 CC > TT subtypes are both highly associated with the presence of features of aggressiveness; however, only the -124C > T was highly associated with TILs. This difference could explain the worse survival rate associated with the tandem -138_139CC > TT mutations.
Observational data • Retrospective data • Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
3ms
Whole tumor analysis reveals early origin of the TERT promoter mutation and intercellular heterogeneity in TERT expression. (PubMed, Neuro Oncol)
On a tumor-wide scale, TPM is among the earliest events in glioma evolution. Intercellular heterogeneity of TERT expression, however, suggests dynamic regulation during tumor growth. TERT expression may be a tumor cell-specific biomarker.
Journal
|
EGFR (Epidermal growth factor receptor) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • TERT (Telomerase Reverse Transcriptase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • MDM4 (The mouse double minute 4)
|
IDH1 mutation • EGFR amplification • TERT mutation • IDH wild-type • TERT promoter mutation
3ms
Association of MGMT Promoter and Enhancer Methylation with Genetic Variants, Clinical Parameters, and Demographic Characteristics in Glioblastoma. (PubMed, Cancers (Basel))
The response of glioblastoma (GBM) patients to the alkylating agent temozolomide (TMZ) vitally depends on the expression level of the repair protein O6-methylguanine-DNA methyltransferase (MGMT)...The observed associations for intragenic enhancer 4, located in intron 2 of MGMT, differed from associations observed for the three intergenic enhancers. Some findings were restricted to subgroups of samples with either methylated or unmethylated MGMT promoters, underpinning the relevance of the MGMT promoter status in GBMs.
Journal
|
MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
|
temozolomide
3ms
Practical approach to molecular pathology of central nervous system tumours (PubMed, Magy Onkol)
Keeping up with the ever-expanding diagnostic repertoire is difficult, however, advantages and disadvantages of these methods and the context in which they may be useful should be understood by those who are involved in the diagnosis of CNS tumours. This summary provides a general overview of the main methods used in molecular diagnostics.
Journal
|
EGFR (Epidermal growth factor receptor) • TERT (Telomerase Reverse Transcriptase)
|
EGFR mutation • EGFR amplification • TERT mutation • TERT promoter mutation • TERT amplification
3ms
Genetic Trio of BRAF and TERT Mutations and rs2853669TT in Papillary Thyroid Cancer Aggressiveness. (PubMed, J Natl Cancer Inst)
SNP rs2853669T>C dramatically refines the prognostic power of BRAF V600E and TERT promoter mutations to a higher precision, suggesting the need for including this SNP in the current genetic-based risk prognostication of PTC.
Journal
|
BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase)
|
BRAF V600E • BRAF mutation • BRAF V600 • TERT mutation • BRAF V600E + TERT mutation • TERT promoter mutation • TERT mutation + BRAF V600E
3ms
TERT promoter mutations and the outcome of patients with advanced urothelial carcinoma treated by platinum-based chemotherapy or pembrolizumab. (PubMed, Pathol Res Pract)
Our analysis suggests that the presence of TERT promoter mutations could negatively affect the outcome of UC patients treated by chemotherapy or pembrolizumab. This hypothesis should be further evaluated in wider cohorts.
Journal • PD(L)-1 Biomarker • IO biomarker • Metastases
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation
|
Keytruda (pembrolizumab)
3ms
Checkpoint inhibition • Trial suspension • Tumor mutational burden • IO biomarker • Checkpoint block
|
EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler)
|
TP53 mutation • EGFR mutation • EGFR amplification • CDKN2A deletion • TERT mutation • IDH wild-type • TERT promoter mutation
|
FoundationOne® CDx
|
Opdivo (nivolumab) • Yervoy (ipilimumab) • ABP 206 (nivolumab biosimilar)
3ms
Trial initiation date
|
EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
|
EGFR mutation • EGFR amplification • CDKN2A deletion • RAS wild-type • TERT mutation • IDH wild-type • TERT promoter mutation
4ms
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade. (PubMed, Acta Neuropathol)
The median overall survival was 36.8 months, compared to 15.5 months for the other 450 patients (p < 0.001). We conclude that "De novo replication repair deficient glioblastoma, IDH-wildtype" represents a biologically distinct subtype in the adult population that may benefit from prospective identification and treatment with immune checkpoint blockade.
Journal • Checkpoint inhibition • Checkpoint block
|
EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • ATRX (ATRX Chromatin Remodeler) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
|
TP53 mutation • EGFR amplification • PTEN mutation • NF1 mutation • CDKN2A deletion • CDKN2A mutation • PDGFRA mutation • TERT mutation • IDH wild-type • TERT promoter mutation
4ms
Significance of TERT promoter mutation in differential diagnosis of non-invasive inverted urothelial lesions of bladder (PubMed, Zhonghua Bing Li Xue Za Zhi)
In terms of mutation pattern, 13/17 of TERT promoter mutations were C228T, 4/17 were C250T. The morphology combined with TERT promoter mutation detection is helpful for the differential diagnosis of bladder non-invasive inverted urothelial lesions.
Journal
|
TERT (Telomerase Reverse Transcriptase)
|
TERT mutation • TERT promoter mutation