The treatment of patients with advanced epidermal growth factor receptor (EGFR)-mutated non-small-cell lung cancer (NSCLC) whose disease progresses after tyrosine-kinase inhibitors (TKIs) treatment has become a research hotspot.

To evaluate the diagnostic performance of PAX1 gene methylation in the detection of cervical lesions and assess its potential clinical application in cervical cancer screening through both a single-centre study and a meta-analysis.

Cervical cancer remains a significant public health priority, particularly in low- and middle-income countries. In this context, liquid biopsy has emerged as a minimally invasive method for detecting and monitoring molecular biomarkers, offering advantages over traditional screening approaches. This systematic review included 21 studies published between 2015 and 2025 and was conducted in accordance with the PRISMA 2020 statement. The analysis examined the role of serum cytokines, circulating microRNAs (miRNAs), and circulating cell-free HPV DNA (cfHPV-DNA) in patients with cervical cancer or high-grade intraepithelial lesions. Circulating miRNAs-particularly miR-21, miR-29a, and miR-34a-are consistently associated with recurrence, tumor progression, and reduced survival. However, their immediate clinical translation remains limited by methodological variability and the lack of universal normalizers. In contrast, cfHPV-DNA, especially with ddPCR, exhibited the best study-level performance, with a specificity of 100% and a sensitivity of approximately 80-88%, across heterogeneous endpoints and analytic conditions. Consequently, cfHPV-DNA represents a promising tool for post-treatment surveillance and early detection of recurrence. Serum cytokines, such as TNF-α, IL-6, and IL-10, reflect inflammation and the tumor microenvironment. Nevertheless, their lack of standardization and variability across detection platforms restricts their reproducibility, positioning them as complementary rather than stand-alone markers. In conclusion, the evidence supports liquid biopsy as a promising tool in cervical cancer management; nonetheless, only cfHPV-DNA is currently ready for clinical application, whereas miRNAs and cytokines require multicenter validation and technical standardization before implementation.

PARP inhibitors (PARPi) improve ovarian cancer (OC) outcomes, but resistance remains a major challenge without reliable prognostic biomarkers. This study identified epigenetic hallmarks of PARPi resistance by integrating 27 studies (22 preclinical, 5 clinical) from the past 15 years, and validating candidate genes using web-based bioinformatics tools and public microarray/RNA-seq datasets from non-relapsed, primary OC tissues. We hypothesised that early aberrant expression of these epigenetically altered, PARPi resistance-related genes in tumours may be linked to disease progression (PFS) and could serve as early biomarkers to be associated with PARPi resistance during first-line treatment. We confirmed epigenetic involvement in PARPi resistance across 36 genes linked to epigenetic modifications. Of these, 10 genes (n = 614-1435)-including RNASEH2B (HR=1.41), VHL (HR=1.26), ATM (HR=1.22), XRCC1 (HR=1.20), NRP1 (HR=1.16), KAT2B (HR=1.16), EZH2 (HR=1.15), CREBBP (HR=1.14), FZD10 (HR=0.87), and CARM1 (HR=0.86)-showed significant prognostic value for PFS (all: p < 0.05). This 10-gene signature remained collectively significant (HR 1.27, p = 0.014). RNA-seq validation showed differential expression of these genes, with highest fold-change overexpression in tumours for FZD10 (4.20), EZH2 (3.56), and CARM1 (1.61), and lowest in ATM (0.22), KAT2B (0.33), and NRP1 (0.44). GO and KEGG analyses revealed these genes are enriched in key resistance pathways, including impaired DNA repair, reduced replication stress, immune evasion, and stemness maintenance. This review with bioinformatic validation identified a 10-gene epigenetic signature associated with PARPi resistance and disease progression. These clinically actionable genes, aberrantly expressed before treatment, may serve as early biomarkers for risk stratification. Further validation in PARPi-sensitive and -resistant ovarian cancer cohorts is needed.

Molecular diagnostics for homologous repair and mismatch repair deficiencies are valuable in metastatic prostate cancer, as they are targetable by poly ADP-ribose polymerase or immune checkpoint inhibition. Molecular diagnostics are rarely used in prostate cancer as they are complex and expensive, and the incidence of the relevant molecular aberrations is low. To address these limitations, image-based artificial intelligence algorithms have been developed to predict molecular aberrations from hematoxylin and eosin slides beyond the pathologist's visual detection. This systematic review assesses the advancements of image-based artificial intelligence algorithms predicting molecular aberrations in prostate cancer pathology and their potential in clinical practice. After screening 4121 articles, 20 articles were identified and assessed using the QUADAS-2 criteria. Nine algorithms, focusing on specific molecular aberrations in prostate cancer, reached a mean area under the curve of 0.78 (range 0.67 - 0.91). When focusing on the thus far clinically relevant specific molecular aberrations, the AI algorithms predicting BRCA, homologous repair deficiency, and mismatch repair deficiency achieved an area under the curve of 0.79, 0.84, and 0.72 on internal validation. Due to the lack of molecularly tested image data, most studies (17/20) used The Cancer Genome Atlas, and only five studies performed external validation. Our review shows that image-based artificial intelligence algorithms could be a pre-screening molecular diagnostic tool, particularly with the recent shift toward clinically more relevant molecular aberrations. Nonetheless, the artificial intelligence algorithms remain in the development stage due to the limited availability of molecularly tested pathology image data needed for proper external validation.

Endometriosis-associated ovarian cancer (EAOC) mainly includes endometrioid ovarian cancer (ENOC) and clear cell ovarian cancer (CCOC). The Cancer Genome Atlas (TCGA) revealed four molecular subtypes of endometrial cancer (EC) in 2013, which have been proven pivotal in the diagnostic, prognostic and therapeutic domains of EC. Existing evidence indicates that EC and EAOC molecular analysis have similar significance. This review aims to investigate the distribution, staging and prognostic characteristics of molecular subtypes in EAOC.

BACKGROUND: Non-coding RNA (ncRNA) expression dysregulation has been implicated in the prognosis of various cancers. Several mechanisms have been associated with altered expression of the ncRNAs with the progression of chronic lymphocytic leukemia (CLL). Based on the special properties that ncRNAs possess, including their stability, tissue specificity, and disease-associated dysregulation, a considerable amount of research has been conducted to identify their potential as non-invasive prognostic biomarkers. METHODS: A comprehensive search was conducted in WOS, Scopus, PubMed, Embase, and ProQuest, in accordance with PRISMA guidelines. Hazard ratios (HRs) were used to assess the prognostic value of ncRNA dysregulation in CLL. Risk of bias was evaluated with the QUIPS tool, and subgroup analyses were based on sample size and study quality. Publication bias was assessed using Egger’s, Begg’s, and Trim-and-Fill tests. Sensitivity analysis employed the leave-one-out method, and evidence certainty was graded using the modified GRADE framework. RESULTS: Our analysis included 4905 CLL patients. Dysregulated miRNAs were associated with shorter overall survival (OS) (HR: 2.41), progression-free survival (PFS) (HR: 1.82), and time to treatment (TTT) (HR: 2.39) in CLL patients. Dysregulation of lncRNAs was linked to poorer OS (HR: 2.76) and earlier TTT initiation (HR: 2.53). Additionally, dysregulation of circRNAs was associated with poorer OS (HR: 3.91). CONCLUSION: Our comprehensive meta-analysis results showed that dysregulation of ncRNAs, including miRNAs, lncRNAs, and circRNAs, was associated with poor clinical outcomes in parameters such as OS, PFS, and TTT, identifying them as moderate prognostic markers for CLL patients.

Advances in genomic technologies have driven a substantial shift in cancer care, including early screening and targeted interventions for high-risk individuals who have not received a cancer diagnosis. Understanding patients' experience of care and their associated outcomes is essential to effectively delivering precision medicine. These outcomes are usually evaluated through patient-reported measures (PRMs), rather than administrative data.

Oncolytic viruses (OVs) achieve selective cytolysis via tumor-specific entry receptor. However, the prevalence of OVs receptors in malignant tumors has not been fully determined yet. Here, we systematically identify and characterize critical cellular entry receptors for clinically relevant OVs, particularly focusing on SCARB2 expression and its potential therapeutic implications for oncolytic Enterovirus A71 (EV-A71) therapy in glioma.

Claudin 18.2 (CLDN18.2) is a novel treatment target for patients with unresectable or stage IV gastric cancer. However, it remains unclear whether the expression of CLDN18.2 affects survival outcomes. In total, 586 patients with GC were enrolled in this study. CLDN18.2 expression in cancer cells was analyzed by immunohistochemistry. Correlations between CLDN18.2 expression and several clinicopathological factors and survival outcomes were investigated. We also performed a systematic review and a meta-analysis. CLDN18.2 expression was mainly observed in the cell membrane. The CLDN18.2 expression was not significantly correlated with any clinicopathological factor. In all patients, CLDN18.2 did not significantly affect OS. In patients with the diffuse type, the overall survival of patients with CLDN18.2-high expression was worse than that of patients with CLDN18.2-low expression, although the difference was not significant (p = 0.092). Meta-analyses revealed that CLDN18.2 was not significant prognostic factor in resected cases, although CLDN18.2 negative cases showed a trend for worse survival. In, conclusion, CLDN18.2 was not a significant prognostic factor in general, although CLDN18.2 negative cases showed a trend for worse survival. We revealed that patients with CLDN18.2 high expression showed worse survival outcomes especially in the diffuse type.

Already decades ago, apolipoprotein E (apoE) was suggested to be implemented in risk of cancer. The aim was to investigate the current evidence on the association between APOE ε2/ε3/ε4 carrier status and risk of cancer.

BACKGROUND: Variants in the Axis Inhibition Protein 2 (AXIN2) have been associated with tooth agenesis, a congenital condition characterized by missing teeth, and an increased risk of various cancers. Studies suggest that individuals with AXIN2 variants may exhibit both dental anomalies and a predisposition to malignancies, particularly colorectal cancer. This raises the possibility that tooth agenesis could serve as an early clinical marker for identifying individuals at higher cancer risk. METHOD: A systematic review was conducted using data from 20 studies with 91 patients carrying 34 unique AXIN2 variants. The number and pattern of missing teeth, as well as the occurrence of cancer types, were evaluated. The genotypic location of AXIN2 variants was also assessed for clinical significance. RESULTS: Most AXIN2 variants were located within the SMAD3 domain. Patients with both tooth agenesis and cancer were more common than those with either condition alone. Among the mutation types, nonsense AXIN2 variants were associated with the most severe tooth agenesis phenotype, averaging 12.9 missing teeth. Second premolars were most frequently missing, and maxillary central incisors were least affected. Regarding cancer, colorectal cancer and polyps were the most common malignancies observed in both sexes, followed by breast and ovarian cancer in females and skin cancer in males. CONCLUSIONS: Tooth agenesis, especially in individuals with AXIN2 variants affecting the SMAD3 domain, may serve as a clinical marker for identifying individuals at increased cancer risk. Recognizing congenital missing teeth in patients with AXIN2 mutations can aid in early cancer screening, improving early detection and outcomes through timely interventions and surveillance.

INTRODUCTION: Cancer remains a leading global health burden, with projections estimating 35 million new cases by 2050. The Speckled Protein 100 (SP100) family, comprising SP100, SP110, SP140, and SP140L, has emerged as a critical player in cancer biology due to their roles in transcriptional regulation, chromatin modification, and immune signaling. While SP100 acts as a tumor suppressor in malignancies like breast cancer, SP110 and SP140 are implicated in promoting oral squamous cell carcinoma and glioma progression, respectively, and SP140L is linked to poor prognosis in pancreatic adenocarcinoma. Despite growing evidence of their dual oncogenic and tumor-suppressive functions across cancers, inconsistencies in expression patterns, regulatory mechanisms, and clinical implications persist. The current review of the SP100 family’s roles in cancer aims to clarify any direct future translational research to enhance cancer outcomes. METHOD: Following PRISMA guidance, a comprehensive search was conducted in several databases (PubMed, Scopus, Web of Science, and Google Scholar). After RAYYAN-assisted deduplication and screening, studies analyzing SP100, SP110, SP140, or SP140L alterations in human cancers (excluding cell lines studies) were included. Data on genetic/epigenetic changes, cancer types, and clinical outcomes were extracted, with quality assessed via standardized tools. RESULTS: This systematic review analyzed 29 studies (2004–2024) to evaluate the dual roles of SP100 family proteins (SP100, SP110, SP140, SP140L) across 25 cancer types. SP100 exhibited context-dependent roles: high expression correlated with better prognosis in breast/lung cancers but poorer outcomes in glioma/PAAD, while low expression in LSCC was linked to tumorigenesis. SP110 overexpression was tied to poor prognosis in oral, lung, and renal cancers but was protective in DLBCL. SP140, the most studied member, showed divergent associations: high expression worsened outcomes in ccRCC, glioma, and gynecologic cancers but improved survival in AML, osteosarcoma, and melanoma. Genetic/epigenetic alterations (mutations, copy number loss, and methylation) influenced prognosis in hematologic and solid tumors. SP140L, the least explored, correlated with poor PAAD prognosis. CONCLUSION: This study highlights the dual oncogenic/tumor-suppressive roles of SP100 family proteins across cancers. It also introduces this family as a therapeutic target. Further, it underscores their prognostic value in hematologic and solid tumors, highlighting SP140 as a key biomarker and SP100/SP140 inhibitors as promising strategies. Geographic bias and limited SP140L data reveal gaps; Future research should include multi-center studies, standardized methods, and mechanistic exploration of SP140L and SP110 in the immune microenvironment. Prioritizing clinical trials targeting SP100 family members could advance precision oncology and immunotherapy integration.

Paragangliomas and phaeochromocytomas (PPGLs) are rare neuroendocrine tumours with 10% to 20% of patients developing metastatic disease. The tumors exhibit a high degree of heritability, and pathogenic genetic variants have been associated with metastases.

Glioblastoma (GBM) remains the most aggressive primary brain tumour in adults, marked by pronounced cellular heterogeneity, diffuse infiltration, and resistance to conventional treatment. In recent years, transcriptomic profiling has provided valuable insights into the molecular mechanisms that govern the progression of glioblastoma. This systematic review aims to synthesise the current literature on dysregulated gene expression in GBM, focusing on gene signatures associated with stemness, immune modulation, extracellular matrix remodelling, metabolic adaptation, and therapeutic resistance.

Chordoma represents a central nervous system tumor with an incidence of 8.4 per 10 million individuals in the U.S. Current treatment options include surgical resection and radiotherapy. Despite recent studies demonstrating significant improvement in molecular understanding of disease, treatment options remain limited.

The benefit of adding anti-EGFR therapy to chemotherapy in RAS wild-type colorectal liver metastases (CRLM) is well established in unresectable patients but remains controversial in resectable ones.

Discrepancies in cancer sequencing data continue to pose significant challenges for accurate mutation detection, potentially resulting in misdiagnoses and suboptimal treatment strategies. Although deep learning (DL) has emerged as a transformative approach for identifying and rectifying these errors, there remains a lack of comprehensive evaluation of DL architectures, performance benchmarks, and clinical translation. In this systematic review of 78 studies (2015-2024), We synthesize recent advancements in DL methodologies for identifying genomic discrepancies, demonstrating that convolutional and graph-based architectures currently achieve state-of-the-art performance in variant calling and tumor stratification. DL models reduce false-negative rates by 30%-40% compared to traditional pipelines, with methods such as MAGPIE prioritizing pathogenic variants with 92% accuracy. However, challenges such as data scarcity, batch effects, and the interpretability of "black-box" models persist. We propose a future research roadmap advocating federated learning to enhance data privacy and attention mechanisms to improve model transparency. By bridging bioinformatics and oncology, this review offers actionable insights to expedite the deployment of DL in precision cancer therapy.

Although the role of human papillomavirus (HPV) infection and epidermal growth factor receptor (EGFR) mutations in inverted sinonasal papilloma (ISP) has been investigated, the association between HPV infection and EGFR mutations remains controversial. The meta-analysis aimed to investigate the association between HPV infection and EGFR mutations in ISP.

Mismatch repair deficiency or microsatellite instability (dMMR/MSI-H) is an established biomarker in early-stage colon cancer and metastatic colorectal cancer. However, its prognostic significance in early-stage rectal cancer patients treated with neoadjuvant therapy remains uncertain. We aimed to fill this gap by conducting a systematic review and meta-analysis of the available evidence. PubMed, Embase and Scopus were systematically searched from inception to 11/03/2025 for studies comparing the outcome of dMMR/MSI-H and MMR proficient/microsatellite stable (pMMR/MSS) rectal cancer patients treated with neoadjuvant therapy. Studies of immune checkpoint inhibitors were excluded. Data on pathologic complete response (pCR), pathologic tumor regression grade (pTRG), disease-free survival (DFS) and overall survival (OS) were extracted. Pooled odds ratios (ORs) and hazard ratios (HRs) with their 95 % confidence interval (95 % CI) were calculated using a random effects model. After screening 705 records, 26 retrospective studies were included, the majority of patients being treated with long-course chemoradiotherapy. There was a significant association between dMMR/MSI-H status and pCR (OR 1.50 [95 % CI: 1.04-2.14]; p = 0.03), while no association was found for pTRG (OR 0.77 [95 % CI: 0.44-1.34]; p = 0.326), DFS (HR 1.00 [95 % CI: 0.50-2.01]; p = 0.998) and OS (HR 1.42 [95 % CI: 1.00-2.01]; p = 0.051). Despite the limited data, subgroup analyses did not appear to reveal any significant difference by type of neoadjuvant treatment. In conclusion, patients with dMMR/MSI-H rectal cancer treated with standard neoadjuvant therapy are more likely to achieve a pCR than those with pMMR/MSS tumors.