Molecular profiling has become essential in the management of nonsmall cell lung cancer (NSCLC). While endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a cornerstone in diagnosis, tissue scarcity may hinder comprehensive testing. Recent studies suggest that supernatant from EBUS-TBNA could serve as an alternative source for molecular analysis.

The prognostic significance of PD-L1 expression in EGFR-mutant non-small cell lung cancer (NSCLC) treated with first-line osimertinib remains uncertain. This study evaluated its association with survival in a real-world cohort, supported by meta-analysis.

Investigating the role of DNA methylation in the development of pancreatic cancer (PC) may facilitate identification of potential targets for both diagnosis and treatment. We carried out a comprehensive epigenome-wide Mendelian randomization (EWMR) analysis to investigate the correlation of genetically predicted blood CpG sites with PC. Following this, we conducted various sensitivity analyses and repeated analyses using different selection criteria for instrumental variables and conditional Bayesian colocalization to guarantee the reliability of the results. External validation and a meta-analysis were then performed to further validate these results. Next, we conducted CpG site enrichment analysis, overlap with phenome-wide association studies (PheWAS) catalog analysis, overlap with epigenome-wide association studies (EWAS) Toolkit analysis, and drug target analysis to explore the enrichment, biological functions, and potential therapeutic targets associated with these sites. Finally, we used the SMR-IVW software to perform mediation analysis, aiming to uncover potential tumorigenesis pathways of PC at the transcriptional level from three distinct perspectives. Results showed 253 CpG sites passing sensitivity analysis were significantly associated with PC and 159 CpG sites were validated in at least one replication. After meta-analysis, 38 CpG sites were retained, and all 253 CpG sites were classified into three tiers. Among these, cg26373071 (CLPTM1L), cg14271713, cg11652496 (PSTPIP1), and cg20575191 (PSTPIP1) were placed in tier 1 with strong support. Finally, this study identified genetic susceptibility linked to 253 PC-related CpG sites. This study provides insights into the disease's origins and underscores potential targets for future research.

Unhealthy diets (e.g., higher red meat consumption) and tobacco exposure are major risk factors for colorectal cancer (CRC), contributing the toxic substances exposure of polycyclic aromatic hydrocarbons (PAHs). However, the genetic regulation of PAHs metabolism-related genes involved in CRC susceptibility remains unexplored. To address this gap, we performed a meta-analysis using cross-ancestry genome-wide data, including East Asian populations (Chinese: Ncase = 1150, Ncontrol = 1342; Japanese: Ncase = 6692, Ncontrol = 27,178) and European (Ncase = 78,473, Ncontrol = 107,143) to evaluate the genetic association of 47 PAHs-metabolism-related genes with CRC risk. Expression patterns were derived from Nanjing ColoRectal Cancer cohort (NJCRC) and public datasets, including a total of 828 bulk RNA-Seq samples, 62 samples for cell-type-specific expression samples, and 50 paired protein validation samples. Finally, we observed that rs7927381 C > T in GSTP1 was associated with reduced CRC risk (odds ratio (OR) = 0.94, 95% confidence interval (CI) = 0.92-0.96, P = 1.90 × 10-7). Intriguingly, it downregulated the GSTP1 expression specifically in plasmablast cells. This effect may be attributed to its location in the DNA-hypersensitive regulatory region with enhancer and promoter activity, which could alter transcription factor binding. Notably, both GSTP1 mRNA and protein level were upregulated in CRC tissues, suggesting its elevation may influence PAHs metabolism through the oxidative phosphorylation and ribosome biological processes, promoting carcinogenesis. In conclusion, we identified GSTP1 rs7927381 as a cross-ancestry genetic variant affecting CRC risk through influencing PAHs metabolizing, offering new insights into the genetic mechanisms underlying CRC.

Ovarian cancer (OC) is the deadliest gynecologic malignancy, mainly due to late-stage diagnosis and the limited accuracy of biomarkers such as Carbohydrate Antigen 125 and Human Epididymis Protein 4. Exosomal microRNAs are promising non-invasive biomarkers for early OC detection. This study assessed the diagnostic accuracy of these methods through a systematic review and meta-analysis.

To investigate the individual and comparative efficacy and safety of targeted therapy based strategies in advanced BRAF-mutated colorectal cancer.

Lysyl oxidase-like 2 (LOXL2) is a key enzyme involved in extracellular matrix remodeling, and its high expression is associated with cancer progression. This study aims to assess the relationship between LOXL2 expression and clinical prognosis in cancer patients through meta-analysis and bioinformatics. A comprehensive literature search was conducted in PubMed, Cochrane Library, Web of Science, and Embase databases until December 2023. Studies reporting the relationship between LOXL2 expression and overall survival (OS) or disease-free survival (DFS) were included. Hazard ratios (HR) and odds ratios (OR) with 95% confidence intervals (CIs) were calculated. Subgroup analyses and meta-regression were performed to evaluate sources of heterogeneity. A total of 30 studies with 5021 patients were included. High LOXL2 expression was significantly associated with poor OS (HR = 1.92, 95% CI: 1.65-2.23, P < 0.001) and DFS (HR = 1.81, 95% CI: 1.39-2.36, P < 0.001). LOXL2 expression correlated with several clinicopathological features, including tumor size (OR = 1.53, P = 0.006), lymph node metastasis (OR = 1.71, P = 0.016), and distant metastasis (OR = 2.63, P < 0.001). Sensitivity analysis confirmed the robustness of these results. High LOXL2 expression is a reliable prognostic biomarker for various cancers, correlating with poor survival outcomes and advanced clinical features. LOXL2 may serve as a therapeutic target to improve cancer prognosis and treatment.

Head and neck squamous cell carcinoma (HNSCC) cause approximately 95% of head and neck malignancies. Clinicopathological predictions are limited, and mitochondrial DNA (mtDNA) mutations have emerged as possible biomarkers. This systematic review and meta-analysis aimed to quantify the relative contributions of several mitochondrial genome regions to the overall mutational burden in HNSCC, thereby contextualizing their potential biological importance.

Hepatitis is a systemic disease marked by neuroimmune dysregulation beyond hepatic inflammation. Using a systems biology approach, we conducted transcriptomic meta-analyses across in vitro models, liver tissues, and PBMCs from hepatitis virus-infected patients to identify neuroimmune signatures. We found a robust neuroimmunome signature, with neuroimmune-related genes showing consistent differential expression across datasets. Functional enrichment revealed disruptions in neurotransmission (including synaptic, glutamatergic, noradrenergic and neuregulin pathways) and immune signaling (such as cytokines, interleukin-1 response, T cell receptor, and trans-synaptic signaling). Linear discriminant analysis (LDA) demonstrated that neuroimmune genes can predict disease severity. Several of these genes were also altered in hepatocellular carcinoma (HCC) samples from The Cancer Genome Atlas Program (TCGA), implicating them in oncogenic transformation. Ligand-receptor analysis revealed dysregulated neuroimmune interactions in liver tissue, notably involving DBH-ADRA1A/B/D, ADRA2A/B/C, ADRB1/2/3, IL33-IL1RL1, and NRG1-ERBB4. Critically, we observed an inverse correlation between neuroimmune gene expression and inflammation markers in advanced HCC, suggesting that neuroimmune suppression may facilitate immune evasion. These findings highlight the neuroimmunome as a potential biomarker and therapeutic target in hepatitis and its complications, reinforcing the role of neuroimmune crosstalk in liver disease progression.

This meta-analysis investigates the association between the p53 rs1042522 polymorphism and thyroid cancer, analyzing 18 case-control studies with 2,116 cases and 4,017 controls. It finds that the C allele is linked to a higher cancer risk (OR 1.572, 95% CI: 1.062-2.326, p = 0.024) but shows significant heterogeneity (I2 = 94.15%). Subgroup analyses indicate protective effects in Caucasian, Asian, and mixed populations (ORs around 0.008 to 0.011). Notably, Follicular and Differentiated Thyroid Carcinomas show strong protective associations, suggesting that while the C allele may increase risk, certain populations may experience reduced risk, emphasizing genetic complexity.

This meta-analysis sought to assess the efficacy and safety of poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPi) as maintenance therapy for patients with newly diagnosed advanced ovarian cancer (OC).

Deficient mismatch repair (dMMR) and microsatellite instability-high (MSI-H) tumors constitute ∼15% of localized colorectal cancers (CRCs). Prognostic biomarkers such as tumor-infiltrating lymphocytes (TILs) and BRAF and KRAS mutations may guide personalized treatment for these patients, and this systematic review and meta-analysis aimed to evaluate their impact on survival outcomes.

Breast Cancer (BC) is a leading cancer among women, influenced by genetic polymorphisms. This meta-analysis examines CYP2C19 (rs4244285) and ESR1 (rs2234693) polymorphisms and BC susceptibility.

The impact of BRAF p.V600E mutation on the pathogenesis of mixed odontogenic tumors remains uncertain. We conducted a systematic review and meta-analysis to determine the prevalence of BRAF mutation in mixed odontogenic tumors and to evaluate the correlation between this mutation and the clinical characteristics of these lesions. The study protocol was registered in PROSPERO (registration number CRD42025636575). A comprehensive search of the PubMed/MEDLINE, Embase, and Scopus databases was conducted. The study population included patients diagnosed with ameloblastic fibroma (AF), developing odontoma (DO), ameloblastic fibro-odontoma (AFO), ameloblastic fibro-dentinoma (AFD), odontoma (OD), odontogenic sarcoma (OS), or ameloblastic fibrosarcoma (AFS), with BRAF mutation detection results. The AFO, AFD, and DO were categorized in 1 group for further analysis. The study quality was assessed using the modified scale of the Agency for Healthcare Research and Quality for observational studies. A random-effects meta-analysis model was employed using Review Manager software. Statistical heterogeneity was assessed by forest plots, Tau-squared, Cochrane Chi-square, and I2 statistics. A total of 9 studies were included in the analysis. Overall, AFS demonstrated the highest BRAF mutation prevalence (71.4%), followed by AF (67.4%) and AFO/AFD/DO (55.6%), respectively. No OD cases exhibited this mutation. In addition, AF, AFO/AFD/DO, and AFS lesions exhibited significantly larger average sizes compared to OD. AFS demonstrated significantly higher recurrence rates than AFO/AFD/DO and OD. Additionally, a significant female predilection for BRAF-mutated AF was identified. BRAF mutation is associated with AF, AFO/AFD/DO, and AFS, but not OD. Its presence in a substantial portion of AFO/AFD/DO, together with their larger size compared to OD, could support a neoplastic nature in at least a subset of these lesions, though a hamartomatous DO may exist. Further investigation and clinical correlation remain essential to distinguish these entities.

In an integrated analysis of phase I/II trials (STARTRK-2, STARTRK-1, ALKA-372-001), entrectinib induced responses in global populations with advanced ROS1-fusion positive (ROS1-fp) non-small cell lung cancer (NSCLC). This study reports updated efficacy and safety data in Asian patients from the integrated analysis (cutoff: 16 July 2023).

PARP inhibitor (PARPi)-based therapy is a well-established treatment modality for metastatic castration-resistant prostate cancer (mCRPC) harboring homologous recombination repair (HRR) deficiencies. However, its clinical efficacy in mCRPC without HRR alterations remains undefined.

To compare the diagnostic test accuracy of Afirma GSC and ThyroSeq v3 in cytologically indeterminate thyroid nodules.

Genome-wide association studies (GWASs) of oral cancers (OC) to date have focused predominantly on European Ancestry (EA) populations. India faces an excess burden of OC, but the most common is the buccal mucosa cancer (BMC), which is relatively rare in EA populations.

Matrix metalloproteinases (MMPs), especially MMP-2, MMP-7, and MMP-9, have key roles in breaking down of extracellular matrix components and participate in tumor invasion, metastasis, and poor prognosis in oral squamous cell carcinoma (OSCC). The main objective of this study was to systematically review and quantitatively synthesize available evidence on the expression of MMP-2, MMP-7, and MMP-9 in OSCC tissues, as well as their concentrations in serum and saliva, in order to assess their potential as diagnostic and prognostic biomarkers and to explore factors influencing their levels across different populations. The study followed PRISMA guidelines, and relevant English-language studies were identified with the help of a comprehensive search of six major databases. Studies were included with the data for MMP-2, MMP-7, or MMP-9 in OSCC tissues, serum, or saliva and had measurable outcomes. A total of 28 eligible studies were analyzed. The analyses showed significant expression of MMPs [0.085, CI 95 % (0.067-0107); I2 = 22.57; P = 0.000; Q = 45.20]. The analyses also showed significant concentration of MMPs [1.62, CI 95 % (0.90-2.33); I2 = 96.38; P = 0.000; Q = 46.81]. Meta-regression analysis showed that geographic region had a significant effect on MMP concentrations, with higher values for studies from Pakistan. However, other factors such as patient age, sampling location, and type of MMP were not statistically significant moderators. These findings support the potential of MMPs as prognostic biomarkers for OSCC. Differences between regions highlight the need for considering local factors in both clinical evaluation and future research design.

Colorectal cancer (CRC) continues to be a common health condition and one of the most prevalent and lethal  cancers worldwide. CRC is the third most leading cancer by incidence and second most common cause of cancer mortality. Emerging evidence showing that inherited genetic variants in genes coding for DNA repair enzymes have potential role in increasing the risk of CRC. Among these,  polymorphisms in the XRCC1 has been widely investigated, although the results have been varied in different populations.