ADVANCES IN MELANOMA DETECTION: A COMPREHENSIVE REVIEW OF EMERGING TECHNOLOGIES AND TECHNIQUES DOI
Vinit Nalawade, Shailesh Kumar,

Shrinivas T. Shirkande

et al.

ShodhKosh Journal of Visual and Performing Arts, Journal Year: 2024, Volume and Issue: 5(6)

Published: June 30, 2024

Melanoma detection has come a long way, mostly thanks to breakthroughs in image technologies and machine learning techniques that aim make diagnoses more accurate improve patient results. Traditional like dermoscopy biopsy are still very important. However, newer multispectral images computer-assisted analysis have made it much easier tell the difference between normal cancerous tumours early on. This review talks about how melanoma tools changed over time where they now. It also artificial intelligence (AI) is being used dermatology. Some new developments high-resolution imaging, confocal microscopy optical coherence tomography, offer non-invasive options for deeper tissue real-time identification of cells, which can be important starting treatment early. Also, improvements teledermatology do screenings from afar, making people get expert care second views, especially helpful areas don't enough resources. been forever by use deep models look at pictures skin lesions with same level accuracy as doctors. These AI systems trained on large datasets help doctors decisions, could cut down medical mistakes bias. Not only that, but AI-powered show lot promise keeping track change time, an part watching melanoma. genetic markers biomarkers become useful finding who risk, allows proactive control personalised plans.

Language: Английский

Lactylation modulation identifies key biomarkers and therapeutic targets in KMT2A-rearranged AML DOI Creative Commons
Dan Liu, Silu Liu, Yujie Ji

et al.

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: Jan. 9, 2025

Acute Myeloid Leukemia (AML) with KMT2A rearrangements (KMT2Ar), found on chromosome 11q23, is often called KMT2A-rearranged AML (KMT2Ar-AML). This variant highly aggressive, characterized by rapid disease progression and poor outcomes. Growing knowledge of epigenetic changes, especially lactylation, has opened new avenues for investigation management this subtype. Lactylation plays a significant role in cancer, inflammation, tissue regeneration, but the underlying mechanisms are not yet fully understood. research examined influence lactylation gene expression within KMT2Ar-AML, initially identifying twelve notable lactylation-dependent differentially expressed genes (DEGs). Using advanced machine learning techniques, six key lactylation-associated (PFN1, S100A6, CBR1, LDHB, LGALS1, PRDX1) were identified as essential prognostic evaluation linked to relevant pathways. The study also suggested PI3K inhibitors Pevonedistat possible therapeutic options modulate immune cell infiltration. Our findings confirm critical KMT2Ar-AML identify that may serve biomarkers diagnosis treatment. In addition highlighting need further validation clinical settings, these contribute our understanding KMT2Ar-AML's molecular mechanisms.

Language: Английский

Citations

1
Advances in Melanoma: From Genetic Insights to Therapeutic Innovations DOI Creative Commons
Fernando Valdez-Salazar,

Luis Alberto Jiménez-Del Río,

Jorge Ramón Padilla‐Gutiérrez

et al.

Biomedicines, Journal Year: 2024, Volume and Issue: 12(8), P. 1851 - 1851

Published: Aug. 14, 2024

Advances in melanoma research have unveiled critical insights into its genetic and molecular landscape, leading to significant therapeutic innovations. This review explores the intricate interplay between alterations, such as mutations BRAF, NRAS, KIT, pathogenesis. The MAPK PI3K/Akt/mTOR signaling pathways are highlighted for their roles tumor growth resistance mechanisms. Additionally, this delves impact of epigenetic modifications, including DNA methylation histone changes, on progression. microenvironment, characterized by immune cells, stromal soluble factors, plays a pivotal role modulating behavior treatment responses. Emerging technologies like single-cell sequencing, CRISPR-Cas9, AI-driven diagnostics transforming research, offering precise personalized approaches treatment. Immunotherapy, particularly checkpoint inhibitors mRNA vaccines, has revolutionized therapy enhancing body’s response. Despite these advances, mechanisms remain challenge, underscoring need combined therapies ongoing achieve durable comprehensive overview aims highlight current state transformative impacts advancements clinical practice.

Language: Английский

Citations

7
Clinical Applications of Machine Learning in the Management of Intraocular Cancers: A Narrative Review DOI Creative Commons
Anirudha S. Chandrabhatla, Taylor M. Horgan,

Caroline C. Cotton

et al.

Investigative Ophthalmology & Visual Science, Journal Year: 2023, Volume and Issue: 64(10), P. 29 - 29

Published: July 21, 2023

Purpose: There is great promise in use of machine learning (ML) for the diagnosis, prognosis, and treatment various medical conditions ophthalmology beyond. Applications ML ocular neoplasms are early development this review synthesizes current state oncology. Methods: We queried PubMed Web Science evaluated 804 publications, excluding nonhuman studies. Metrics on algorithm performance were collected Prediction model study Risk Of Bias ASsessment Tool was used to evaluate bias. report results 63 unique Results: Research regarding applications intraocular cancers has leveraged multiple algorithms data sources. Convolutional neural networks (CNNs) one most commonly work focused uveal melanoma retinoblastoma. The majority models discussed here developed diagnosis prognosis. Algorithms primarily imaging (e.g., optical coherence tomography) as inputs, whereas those prognosis combinations gene expression, tumor characteristics, patient demographics. Conclusions: potential improve management cancers. Published perform well, but occasionally limited by small sample sizes owing low prevalence This could be overcome with synthetic enhancement low-shot techniques. CNNs can integrated into existing diagnostic workflows, while non-neural well determining

Language: Английский

Citations

14
Global trends and emerging insights in BRAF and MEK inhibitor resistance in melanoma: a bibliometric analysis DOI Creative Commons
Jianhao Bai,

Zhongqi Wan,

Wanru Zhou

et al.

Frontiers in Molecular Biosciences, Journal Year: 2025, Volume and Issue: 12

Published: Jan. 17, 2025

This study aims to perform a comprehensive bibliometric analysis of global research on BRAF and MEK inhibitor resistance in melanoma, identifying key trends, influential contributors, emerging themes from 2003 2024. A systematic search was conducted the Web Science Core Collection (WoSCC) database retrieve publications related 1 January 2003, September Bibliometric analyses, including publication citation networks, keyword co-occurrence patterns, were performed using VOSviewer CiteSpace. Collaborative co-cited references, burst analyses mapped uncover shifts focus cooperation. total 3,503 documents, 2,781 articles 722 review papers, analyzed, highlighting significant growth this field. The United States, China, Italy led volume impact, with Harvard University California System among top contributing institutions. Research output showed three phases growth, peaking 2020. Keyword co-citation revealed transition early mutations MAPK pathway activation recent emphasis immunotherapy, combination therapies, non-apoptotic cell death mechanisms like ferroptosis pyroptosis. These trends reflect evolving priorities innovative approaches shaping field inhibitors melanoma. has evolved significantly. provides strategic framework for future investigations, guiding development innovative, multi-modal improve treatment outcomes melanoma patients.

Language: Английский

Citations

0
An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma DOI Creative Commons
Michele Massimino, Elena Tirrò, Stefania Stella

et al.

Biomolecules, Journal Year: 2025, Volume and Issue: 15(1), P. 146 - 146

Published: Jan. 18, 2025

Background: Despite advances in uveal melanoma (UM) diagnosis and treatment, about 50% of patients develop distant metastases, thereby displaying poor overall survival. Molecular profiling has identified several genetic alterations that can stratify with UM into different risk categories. However, these are currently dispersed over multiple studies methodologies, emphasizing the need for a defined workflow will allow standardized reproducible molecular analyses. Methods: Following findings published by “The Cancer Genome Atlas–UM” (TCGA-UM) study, we developed an NGS-based gene panel (called UMpanel) classifies mutation sets four categories: initiating (CYSLTR2, GNA11, GNAQ PLCB4), prognostic (BAP1, EIF1AX, SF3B1 SRSF2), emergent biomarkers (CDKN2A, CENPE, FOXO1, HIF1A, RPL5 TP53) chromosomal abnormalities (imbalances chromosomes 1, 3 8). Results: Employing commercial panels, reference mutated DNAs Sanger sequencing, performed comparative analysis found our methodological approach successfully predicted survival great specificity sensitivity compared to TCGA-UM cohort was used as validation group. Conclusions: Our results demonstrate translates reliable tool clinical stratification UM.

Language: Английский

Citations

0
Exploring recent advances in signaling pathways and hallmarks of uveal melanoma: a comprehensive review DOI Creative Commons
Majid Banimohammad, Parsa Khalafi, Danial Gholamin

et al.

Exploration of Targeted Anti-tumor Therapy, Journal Year: 2025, Volume and Issue: unknown

Published: April 2, 2025

The purpose of this review was to provide a comprehensive the latest insights on pathogenesis uveal melanoma (UM) and its intracellular pathways. This article covers epidemiology UM, racial predispositions, cytogenetic chromosomal alterations, gene mutations, key defective pathways, their underlying mechanisms, as well application hallmarks cancer UM. A knowledge gap remains in identifying most effective targeted therapy determining central pathway linking multiple signaling networks. UM is malignant tumor arising from melanocytes, predominantly affecting choroid, with both genetic epigenetic contributors. Key alterations include monosomy 3, chromosome 6p gain, 1p loss, 8q gain. important UM-related pathways are RAS/MAPK, PI3K/Akt/mTOR, Hippo-YAP, retinoblastoma (Rb), p53 In RAS/MAPK pathway, GNAQ/GNA11 mutations occur which account for more than 80% cases. PI3K/Akt/mTOR promotes cyclin D1 overexpression MDM2 upregulation, leading inhibition. activate YAP via Trio-RhoGTPase/RhoA/Rac1 circuit Hippo-YAP pathway. Rb dysregulation results or cyclin-dependent kinase inhibitor (CDKI) inactivation. characterized by overexpression, Bcl-2 deregulation. Eventually, ARF-MDM2 axis serves critical link between RAS Hallmarks cancer, such evasion growth suppression self-sufficiency signals, also evident Genetic including NSB1, CCND1 amplification, BAP1 play pivotal roles pathobiology. Thus, exhibits multifactorial pathology. By consolidating mechanisms pathogenesis, provides perspective involved offering that may facilitate development therapeutic strategies.

Language: Английский

Citations

0
Next‐generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway DOI Open Access
Manuel Pérez‐Pérez,

Alessandro Agostino,

Carmen García de Sola‐Llamas

et al.

Clinical and Experimental Ophthalmology, Journal Year: 2023, Volume and Issue: 51(8), P. 822 - 834

Published: Oct. 6, 2023

Abstract Background Uveal melanoma (UM) is the eye's most common primary malignancy and there are no effective therapies for disseminated disease. It important to try know patient's prognosis. The aim of this study was reflect genetic variants, studied using NGS, a series 69 cases UM its correlation with histopathology clinical progression. Methods We performed targeted NGS 519‐gene panel. Results There were selected 28 different mutated genes, showing total 231 variants that affected function protein. secondary mutations occurred in SF3B1 (in 26%), followed by BAP1 23%), LRP1B (22%) FGFR4 (20%). mutation associated greater likelihood metastases presence epithelioid cells. also cells significantly spindle morphology. found RAD51B, TOP2A, PTPRD, TSC2, DHX9, PDK1 MTOR have not been previously reported consulted databases. in: CHEK2, DHX9 metastases. Conclusions solid biomarker poor prognosis can be detected NGS. cell subtype UM, which gives it probably favourable prognostic value. Our suggests These potential biomarkers related PI3K/AKT/mTOR pathway makes them candidates developing new directed therapies.

Language: Английский

Citations

5
Transcriptome data‐based status of PI3K/AKT/mTOR pathway indicates heterogeneity and immune modulation in patients with pancreatic ductal adenocarcinoma DOI
Peng Xie, Siyuan Tan, Haifeng Li

et al.

The Journal of Gene Medicine, Journal Year: 2023, Volume and Issue: 26(1)

Published: July 22, 2023

Abstract Background Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal cancer with limited treatment options. The PI3K/AKT/mTOR pathway commonly activated in PDAC and plays critical role its progression. Methods Results In this study, the effect of taselisib (a selective PI3K inhibitor) on cell proliferation was investigated, significant decrease viability observed increasing concentrations taselisib. Differential analysis samples from Genotype–Tissue Expression Cancer Genome Atlas databases revealed 24 dysregulated pathway‐related genes (PRGs). Unsupervised clustering‐based transcriptome cohorts two clusters high consistency between RNA‐seq microarray cohorts. Cluster B had higher enrichment immune cells, particularly CD8 + T lower levels immunosuppressive Treg cells. Moreover, we investigated relationship drug sensitivity different found that cluster A better response to inhibitors chemotherapy. Finally, exhibited activation related oncogenic pathways, contributing poor prognosis. study also developed risk score based expression profiles PRGs machine learning, which showed increase overall survival time among patients low‐risk group. Importantly, could be used predict individual scores, as evidenced by stratified analysis. Conclusions These findings suggest targeting may have therapeutic potential PDAC, distinct states, modulation tumor microenvironments prognostic value.

Language: Английский

Citations

4
Impact of Physical Exercise on Melanoma Hallmarks: Current Status of Preclinical and Clinical Research DOI Creative Commons
Claudia Ceci, Celia García‐Chico, Maria Grazia Atzori

et al.

Journal of Cancer, Journal Year: 2023, Volume and Issue: 15(1), P. 1 - 19

Published: Dec. 5, 2023

In recent years, accumulating evidence from preclinical and clinical studies consistently indicated that physical activity/exercise plays a crucial role in reducing the incidence recurrence of various malignancies, by exerting beneficial modulation cancer hallmarks.Moreover, activity is suggested to attenuate certain adverse effects anticancer therapy, including reduction cardiovascular toxicity symptoms related depression anxiety, among others, while preserving muscular strength.In case melanoma, relationship with has been critically debated.Historically, several cohort meta-analyses reported positive association between melanoma risk.This was primarily attributed outdoor activities may expose skin UV radiation, well-known risk factor for melanocyte transformation.However, more does not support such recognizes both prevention progression.Nevertheless, sun protection recommended during training minimize radiation exposure.This narrative review summarizes data about on hallmarks.Specifically, experimental concerning (i) invasion metastasis, (ii) reprogramming energy metabolism, (iii) angiogenesis, (iv) resistance cell death, (v) evasion immune destruction, (vi) tumor-promoting inflammation.

Language: Английский

Citations

4
Uncovering the Role of Anoikis-Related Genes in Modulating Immune Infiltration and Pathogenesis of Diabetic Kidney Disease DOI Creative Commons
Jiaqiong Lin, Yan Lin, Xiaoyong Li

et al.

Journal of Inflammation Research, Journal Year: 2024, Volume and Issue: Volume 17, P. 4975 - 4991

Published: July 1, 2024

Diabetic kidney disease (DKD) is an intricate complication of diabetes with limited treatment options. Anoikis, a programmed cell death activated by loss anchorage to the extracellular matrix, participated in various physiological and pathological processes. Our study aimed elucidate role anoikis-related genes DKD pathogenesis.

Language: Английский

Citations

1