-New frontiers in domain-inspired radiomics and radiogenomics: increasing role of molecular diagnostics in CNS tumor classification and grading following WHO CNS-5 updates

Cancer Imaging, Journal Year: 2024, Volume and Issue: 24(1)

Published: Oct. 7, 2024

Abstract Gliomas and Glioblastomas represent a significant portion of central nervous system (CNS) tumors associated with high mortality rates variable prognosis. In 2021, the World Health Organization (WHO) updated its Glioma classification criteria, most notably incorporating molecular markers including CDKN2A/B homozygous deletion, TERT promoter mutation, EGFR amplification, + 7/−10 chromosome copy number changes, others into grading adult pediatric Gliomas. The inclusion these corresponding introduction new subtypes has allowed for more specific tailoring clinical interventions inspired wave Radiogenomic studies seeking to leverage medical imaging information explore diagnostic prognostic implications biomarkers. Radiomics, deep learning, combined approaches have enabled development powerful computational tools MRI analysis correlating characteristics various biomarkers integrated WHO CNS-5 guidelines. Recent leveraged methods accurately classify in accordance molecular-based criteria based solely on non-invasive MRI, demonstrating great promise tools. this review, we relative benefits drawbacks frameworks highlight technical innovations presented by recent landscape fast evolving subtyping. Furthermore, potential challenges routine radiological workflows, aiming enhance patient care optimize outcomes field CNS tumor management, been highlighted.

Language: Английский

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TERT promoter mutations in gliomas: Molecular roles in tumorigenesis, metastasis, diagnosis, prognosis, therapeutic targeting, and drug resistance

Biochimica et Biophysica Acta (BBA) - Reviews on Cancer, Journal Year: 2024, Volume and Issue: unknown, P. 189243 - 189243

Published: Dec. 1, 2024

Language: Английский

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Molecular Biomarkers and Recent Liquid Biopsy Testing Progress: A Review of the Application of Biosensors for the Diagnosis of Gliomas

Molecules, Journal Year: 2023, Volume and Issue: 28(15), P. 5660 - 5660

Published: July 26, 2023

Gliomas are the most common primary central nervous system tumors, with a high mortality rate. Early and accurate diagnosis of gliomas is critical for successful treatment. Biosensors significant in detection molecular biomarkers because they simple to use, portable, capable real-time analysis. This review discusses several important as well various biosensors designed glioma diagnosis, such electrochemical optical biosensors. We present our perspectives on existing challenges hope that this can promote improvement

Language: Английский

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MRI radiomics model for predicting TERT promoter mutation status in glioblastoma

Brain and Behavior, Journal Year: 2023, Volume and Issue: 13(12)

Published: Dec. 1, 2023

Abstract Background and purpose The presence of TERT promoter mutations has been associated with worse prognosis resistance to therapy for patients glioblastoma (GBM). This study aimed determine whether the combination model different feature selections classification algorithms based on multiparameter MRI can be used predict subtype in GBM patients. Methods A total 143 were included our retrospective study, 2553 features obtained. datasets randomly divided into training test sets a ratio 7:3. synthetic minority oversampling technique was achieve data balance. Pearson correlation coefficients dimension reduction. Three five selected features. Finally, 10‐fold cross validation applied dataset. Results eight generated by recursive elimination (RFE) linear discriminant analysis (LDA) showed greatest diagnostic performance (area under curve values training, validation, testing sets: 0.983, 0.964, 0.926, respectively), followed relief random forest (RF), variance RF. Furthermore, optimal selection separately evaluating those algorithms, RF most preferable algorithm assessing three selectors. ADC entropy parameter that made contribution discrimination mutations. Conclusions Radiomics RFE LDA mainly good predicting GBM.

Language: Английский

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‘Slicing’ glioblastoma drivers with the Swiss cheese model

Trends in cancer, Journal Year: 2023, Volume and Issue: 10(1), P. 15 - 27

Published: Aug. 23, 2023

The Swiss cheese model is used to assess risks and explain accidents in a variety of industries. This can be applied dissect the homeostatic mechanisms whose cumulative dysregulation contributes disease states, including cancer. Using glioblastoma (GBM) as an exemplar, we discuss how specific protumorigenic collectively drive by affecting genomic integrity, epigenetic regulation, metabolic homeostasis, antitumor immunity. We further highlight host factors, such hormonal differences aging, impact this process, interplay between these 'system failures' that enable tumor progression foster therapeutic resistance. Finally, examine therapies consider interactions elements, which may comprise more effective approaches given multifaceted GBM.

Language: Английский

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Loneliness, Depression, and Genetics in the Elderly: Prognostic Factors of a Worse Health Condition?

International Journal of Environmental Research and Public Health, Journal Year: 2022, Volume and Issue: 19(23), P. 15456 - 15456

Published: Nov. 22, 2022

Loneliness is considered a prognostic factor for poorer health status in the elderly. It proposed to analyze role of loneliness terms various factors. A total 1747 individuals from pilot survey Aging Spain Longitudinal Study (ELES-PS) were reviewed. ELES cross-sectional study collecting variables, food habits, socioeconomic data, and cognitive functional capacities, which was carried out on Spanish representative sample noninstitutionalized persons 50 years age or older. Moreover, since telomere shortening associated with cellular senescence, 35 telomere-related SNPs impairments analyzed. The results characterize “solos” as males 50–60 years, who overweight had lower levels hemoglobin neutrophils. There also an association between five related length BDNF. group people depression identified status, perception their quality life, sleep, physical activity. Therefore, it follows that telomeres BDNF play intermediaries relationship worse state health.

Language: Английский

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The TERT Promoter: A Key Player in the Fight for Cancer Cell Immortality

Biochemistry (Moscow), Journal Year: 2023, Volume and Issue: 88(S1), P. S21 - S38

Published: Jan. 1, 2023

Language: Английский

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TERTmonitor—qPCR Detection of TERTp Mutations in Glioma

Genes, Journal Year: 2023, Volume and Issue: 14(9), P. 1693 - 1693

Published: Aug. 25, 2023

Telomerase promoter (TERTp) mutations are frequently observed in various types of tumours and commonly characterised by two specific hotspots located at positions -124 -146 upstream the start codon. They enhance

Language: Английский

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The mutated in colorectal cancer (MCC) gene can serve as a potential biomarker of glioblastoma

Frontiers in Oncology, Journal Year: 2024, Volume and Issue: 14

Published: Oct. 8, 2024

Introduction The mutated in colorectal cancer (MCC) gene was initially identified as a candidate tumor suppressor cancer, acting negative regulator of cell cycle progression. However, its functional roles brain tumors, particularly glioblastoma, remain largely unexplored. This study reveals significant association between MCC status and glioblastoma. Methods We explored expression the glioblastoma database, patient samples, lines. investigated proliferation migration lines knockdown using small interfering RNA. Results In vitro analyses revealed elevated protein mRNA levels several (U118MG T98G). Silencing via siRNA-mediated resulted increased these Supporting findings, Cancer Genome Atlas (TCGA), Chinese Glioma (CGGA), Genotype-Tissue Expression (GTEx) databases confirmed higher tumors than normal tissue. Importantly, we observed that high associated with poor prognosis patients, highlighting potential role disease Additionally, this identifies nuclear localization line. Discussion These findings indicate is significantly upregulated may play pathophysiology, warranting further investigation.

Language: Английский

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Conserved G-Quadruplex-Forming Sequences in Mammalian TERT Promoters and Their Effect on Mutation Frequency

Life, Journal Year: 2023, Volume and Issue: 13(7), P. 1478 - 1478

Published: June 29, 2023

Somatic mutations in the promoter region of human telomerase reverse transcriptase (hTERT) gene have been identified many types cancer. The hTERT is known to be enriched with sequences that enable formation G-quadruplex (G4) structures, whose presence associated elevated mutagenicity and genome instability. Here, we used a bioinformatics tool (QGRS mapper) search for G4-forming (G4 motifs) 1000 bp TERT regions 141 mammalian species belonging 20 orders, 5 which, including primates predators, contain more than 10 species. Groups conserved G4 motifs single-nucleotide variants within these groups were discovered using block alignment approach (based on Nucleotide PanGenome explorer). It has shown that: (i) are predominantly located proximal transcription start site (up 400 bp) over-represented non-coding strand promoters, (ii) 11 22% found evolutionarily across related organisms, (iii) statistically significant higher frequency nucleotide substitutions compared surrounding was confirmed only order Primates. These data support assumption G4s can interfere DNA repair process affect evolutionary adaptation organisms

Language: Английский

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