Immunotherapy has become the first-line treatment for metastatic mismatch repair deficient (dMMR) colorectal cancer. The efficacy and safety of neoadjuvant immunotherapy for the treatment of non-metastatic dMMR colorectal cancer remain unclear. In this article, we explore the clinical effect and safety of neoadjuvant immunotherapy for non-metastatic dMMR colorectal cancer.

In the last twenty years, epidemiological research has suggested a potential decreased susceptibility to cancer among individuals diagnosed with Parkinson's disease (PD), although conflicting findings exist regarding the connection between PD and Colorectal cancer (CRC). This systematic review and meta-analysis were conducted to investigate the contemporary epidemiological data on the risk of CRC in PD.

Birt-Hogg-Dubé (BHD) syndrome is associated with an increased risk of pneumothorax. This study aimed to determine the prevalence of spontaneous pneumothorax among individuals diagnosed with BHD syndrome.

Hemorrhagic neurovascular diseases, with high mortality and poor outcomes, urge novel biomarker discovery and therapeutic targets. Micro-ribonucleic acids (miRNAs) are potent post-transcriptional regulators of gene expression. They have been studied in association with disease states and implicated in mechanistic gene interactions in various pathologies. Their presence and stability in circulating fluids also suggest a role as biomarkers. This review summarizes the current state of knowledge about miRNAs in the context of cerebral cavernous malformations (CCMs), a disease involving cerebrovascular dysmorphism and hemorrhage, with known genetic underpinnings. We also review common and distinct miRNAs of CCM compared to other diseases with brain vascular dysmorphism and hemorrhage. A systematic search, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline, queried all peer-reviewed articles published in English as of January 2025 and reported miRNAs associated with four hemorrhagic neurovascular diseases: CCM, arteriovenous malformations, moyamoya disease, and intracerebral hemorrhage. The PubMed systematic search retrieved 154 articles that met the inclusion criteria, reporting a total of 267 unique miRNAs identified in the literature on these four hemorrhagic neurovascular diseases. Of these 267 miRNAs, 164 were identified in preclinical studies, while 159 were identified in human subjects. Seventeen miRNAs were common to CCM and other hemorrhagic diseases. Common and unique disease-associated miRNAs in this systematic review motivate novel mechanistic hypotheses and have potential applications in diagnostic, predictive, prognostic, and therapeutic contexts of use. Much of current research can be considered hypothesis-generating, reflecting association rather than causation. Future areas of mechanistic investigation are proposed alongside approaches to analytic and clinical validations of contexts of use for biomarkers.

Glioblastoma (GBM) is the most aggressive and heterogeneous neoplasm among central nervous system tumors, with a dismal prognosis and a high recurrence rate. Among the various genetic alterations found in GBM, the amplification of epidermal growth factor receptor (EGFR) and the EGFR variant III (EGFRvIII) mutation are among the most common, though their prognostic value remains controversial. This systematic review and meta-analysis aimed to provide a comprehensive evaluation of the diagnostic and prognostic significance of EGFR amplification and the EGFRvIII mutation in GBM patients, incorporating recent studies published in the past few years to offer a more complete and up-to-date analysis. An extensive search of the PubMed, Web of Science, and Scopus databases was conducted, including studies that reported on EGFR and/or the EGFRvIII mutation status with detailed survival data. A total of 32 studies with 4208 GBM patients were included. The results indicated that EGFR amplification significantly correlated with worse OS (Overall survival) (HR = 1.27, 95% CI: 1.03-1.57), suggesting that EGFR amplification is an independent prognostic marker. The prognostic value of EGFRvIII was inconclusive, with a pooled hazard ratio for overall survival of 1.13 (95% CI: 0.94-1.36), indicating no significant effect on survival in the general population. However, a subgroup analysis suggested that EGFRvIII may be associated with poorer outcomes, particularly in recurrent GBM patients, where its prognostic significance became more evident. Furthermore, subgroup analyses based on geographic region revealed significant heterogeneity in the prognostic impact of EGFR amplification across different populations. In American cohorts, EGFR amplification was strongly associated with an increased risk of mortality (HR = 1.53, 95% CI: 1.28-1.84, p = 0.001), suggesting that it serves as a more reliable prognostic marker in this region. In contrast, no significant prognostic impact of EGFR amplification was observed in Asian (HR = 0.64, 95% CI: 0.35-1.17) or European (HR = 0.98, 95% CI: 0.80-1.19) populations. Overall, this study underscores the potential of EGFR amplification as a prognostic marker in GBM, while further research is needed to fully elucidate the role of the EGFRvIII mutation, particularly in specific patient subgroups. Clarifying these associations could offer important insights for targeted treatment strategies, improving patient outcomes.

The combination of traditional Chinese medicine (TCM) with chemotherapy has been widely applied in the treatment of gastric cancer (GC). However, previous clinical studies have been constrained by small sample sizes and a lack of investigation into the molecular mechanisms of TCM. This study aims to assess the efficacy of TCM in treating GC by leveraging the strengths of meta-analysis and multi-omics approaches while also summarizing the underlying pharmacological mechanisms.

(1) Background: Over 80 % of low-grade gliomas have IDH mutations, leading to 2-hydroxyglutarate accumulation, an oncometabolite that promotes gliomagenesis by altering metabolism and impairing anti-tumour immunity. Previously, treatment options included surgical resection (debulking) with or without chemo/radiotherapy based on tumour risk. Vorasidenib, an IDH inhibitor (IDHi), demonstrates promising activity in IDH-mutant low-grade gliomas. While immunotherapy has succeeded in other solid tumours, its efficacy as a single agent in gliomas remains limited. This review explores potential synergies between IDHi and immunotherapy in IDH-mutant glioma across preclinical and clinical studies; (2) Methods: A systematic review (Prospero: CRD42024523861) was performed using Medline, Cochrane, EMBASE and ClinicalTrials.Gov. Findings were summarised using descriptive analysis without meta-analysis; (3) Results: This review included four preclinical murine and two clinical studies. Preclinical findings suggest that combining IDHi with immunotherapy enhances anti-tumour immunity and survival. Clinical trials are underway, but limitations include small sample sizes and treatment heterogeneity; (4) Conclusions: The high certainty of evidence and satisfactory risk of bias provide further rationale for future research investigating this combination, including larger randomised, blinded studies with standardised treatment regimens to validate preclinical findings and enhance translational relevance. Moreover, future preclinical studies should integrate multiple cell-line models, including patient-derived models.

Epidermal growth factor receptor (EGFR) mutations are present in 10-60% of all non-small cell lung cancer (NSCLC) patients and are associated with dismal prognosis. Lung cancer brain metastases (LCBM) are a common complication of lung cancer. Predictions of EGFR can help physicians in decision-making and, through optimizing treatment strategies, can result in more favorable outcomes. This systematic review and meta-analysis evaluated the predictive performance of machine learning (ML)-based models in EGFR status in NSCLC patients with brain metastasis.

The telomerase reverse transcriptase (TERT) promoter mutations have been linked to the prognosis and survival of several cancers; however, it is still debatable in case of oral squamous cell carcinoma. The exact reason for it is currently unknown. However, considering its role in cell survival and proliferation it is imperative to evaluate the association between TERT promoter mutations and OSCC. The systematic review and meta-analysis were carried out to gather evidence for TERT promotor mutation in OSCC. Electronic databases along with grey literature were searched for relevant studies. We used fixed- or random-effect models to calculate pooled proportion, estimated odds ratios or standardized mean differences, and corresponding 95% confidence intervals (CIs). We included 13 eligible studies incorporating 816 cases. The average frequency of TERT promotor mutation was 46.1% (0.46, 95% CI, 0.33, 0.60). However, TERT promoter mutations were not associated with gender, habit (smoking and betel nut), nodal involvement, metastases, and TNM stage. C228T (189/287), C250T (73/287), C228A, and other variants of TERT mutation were frequently detected TERT mutation variant in OSCC. TERT promoter mutations could be considered as biomarkers assisting in risk stratification and prognostic prediction.

In recent years, precision medicine for non-small cell lung cancer (NSCLC) has made significant strides, particularly with advancements in diagnostic and therapeutic technologies. Targeted 7therapies and Anti-PD-(L)1 Therapies have emerged as vital treatment options, yet KRAS mutations, especially KRAS G12C, have been historically difficult to address. Due to the unique activation mechanism of KRAS G12C has led to the development of specific inhibitors, such as AMG 510 and MRTX849, which show promising therapeutic potential. However, results from the CodeBreaK 200 Phase III trial indicated that AMG 510 did not significantly improve overall survival compared to docetaxel. Resistance after prolonged use of KRAS G12C inhibitors continues to pose a challenge, prompting interest in new drugs and combination strategies. KRAS mutations can impair tumor-infiltrating T cell function and create an immunosuppressive tumor microenvironment, making the combination of KRAS G12C inhibitors with anti-PD-(L)1 therapies particularly appealing. Preliminary data suggest these combinations may enhance both survival and quality of life, though safety concerns remain a barrier. Ongoing research is crucial to refine treatment regimens and identify suitable patient populations. This review focuses on the development of KRAS G12C inhibitors in monotherapy and combination therapies for NSCLC, discussing major clinical trials and future research directions.

to compare the diagnostic accuracy of DNA ploidy compared to biopsy followed by histopathological investigation in patients with oral potentially malignant disorders (OPMDs).

Artificial intelligence (AI) networks offer significant potential for predicting immunotherapy outcomes in gastrointestinal cancers by analyzing genetic mutation profiles. Their application in prognosis remains underexplored. This systematic review and meta-analysis aim to evaluate the effectiveness of AI-based models, which refers to systems utilizing artificial intelligence to analyze data and make predictions, in predicting immunotherapy responses in gastrointestinal cancers using genetic mutation features.

Ferroptosis, an iron-dependent form of regulated cell death characterized by lipid peroxidation, has emerged as a critical process in various diseases. MicroRNAs (miRNAs), small non-coding RNAs that regulate gene expression, are increasingly recognized as key modulators of ferroptosis pathways. This systematic review aims to provide a comprehensive overview of the current knowledge regarding miRNAs implicated in ferroptosis across a spectrum of diseases. We conducted a systematic search of EMBL-EBI, PubMed, Scopus, and Web of Science databases to identify relevant studies published up to October 31, 2022. Our search strategy identified 127 articles encompassing 107 distinct miRNAs that influence ferroptosis. This review synthesizes the findings of these studies, highlighting the specific miRNAs that act as either inhibitors or inducers of ferroptosis in different disease contexts, including various cancers (e.g., lung, breast, colorectal) and degenerative conditions (e.g., acute renal failure, diabetic retinopathy). We discuss the molecular mechanisms by which these miRNAs regulate ferroptosis, often by targeting key genes involved in iron metabolism, lipid peroxidation, and antioxidant defense. Furthermore, we explore the potential of these miRNAs to serve as diagnostic biomarkers and therapeutic targets in ferroptosis-related disorders, offering insights into novel strategies for disease management.

Treatment resistance due to gene alterations remains a challenge for patients with EGFR-mutated advanced or metastatic non-small-cell lung cancer (a/mNSCLC). A systematic literature review (SLR) was conducted to describe resistance mutation profiles and their impact on clinical outcomes in adults with a/mNSCLC in the United States (US). A comprehensive search of MEDLINE and Embase (2018-August 2022) identified 2986 records. Among 45 included studies, osimertinib was the most commonly reported treatment (osimertinib alone: 15 studies; as one of the treatment options: 18 studies), followed by other tyrosine kinase inhibitors (TKIs; 5 studies) and non-TKIs (1 study). For first-line (1L) and second-line (2L) osimertinib, the most frequent EGFR-dependent resistance mechanisms were T790M loss (1L: 15.4%; 2L: 20.5-49%) and C797X mutation (1L: 2.9-12.5%; 2L: 1.4-22%). EGFR-independent mechanisms included MET amplification (1L: 0.6-66%; 2L: 7.2-19%), TP53 mutation (1L: 29.2-33.3%), and CCNE1 amplification (1L: 7.9%; 2L: 10.3%). For patients receiving osimertinib, EGFR T790M mutation loss, EGFR/MET/HER2 amplification, RET fusion, and PIK3CA mutation were associated with worse progression-free survival. Resistance mechanisms resulting from current NSCLC treatments in the US are complex, underscoring the need to address such heterogeneous resistance profiles and improve outcomes for patients with EGFR-mutated a/mNSCLC.

Acquired MET alterations is one of the resistance mechanisms to advanced NSCLC patients treated with EGFR tyrosine kinase inhibitors (TKIs). Several clinical trials combined MET-TKI (such as capmatinib, tepotinib, savolitinib) with EGFR-TKI to overcome MET alterations resistance. We performed this meta-analysis to determine the efficacy and safety of MET-TKI plus EGFR-TKI combined therapy in NSCLC patients.

Multiple myeloma ranks as the second most common hematopoietic malignancy in terms of both incidence and mortality. Prognostic stratification is critical for optimizing therapeutic strategies, as certain genetic alterations can significantly influence disease progression and treatment response. The meta-analysis analyzed data from 3421 multiple myeloma patients and 14,720 controls. PubMed, Web of Science, and Scopus were used as databases. Associations between the SNPs and multiple myeloma were calculated as a measure of pooled odds ratios (ORs) and 95% confidence intervals. Statistical analysis was performed using Review Manager (RevMan). DNAH11 rs4487645 A/C genotype (OR = 1.35; 95% CI: 1.24-1.46; p < 0.00001; I2 = 0%), ULK4 rs1052501 G/G genotype (OR = 1.21; 95% CI: 0.98-1.50; p = 0.08; I2 = 64%), ULK4 rs1052501 A/G genotype (OR = 1.23; 95% CI: 1.13-1.34; p < 0.00001; I2 = 0%), DTNB rs6746082 A/A genotype (OR = 1.10; 95% CI: 1.01-1.20; p = 0.03; I2 = 45%), and VDR rs1544410 A/G genotype (OR = 1.87; 95% CI: 1.04-3.36; p = 0.04; I2 = 0%) increased multiple myeloma risk. Our study concludes that DNAH11, ULK4, DTNB, and VDR may serve as predictive biomarkers for MM risk.

B7H3 (CD276), an immunoregulatory molecule known for its role in immune evasion by transmitting inhibitory signals to T lymphocytes, has garnered significant attention in recent years as a promising target for cancer immunotherapy. This interest is largely due to its high expression in various types of solid tumors, coupled with low protein levels in normal tissues. However, studies examining the impact of B7H3 on survival outcomes have shown inconsistent results, leaving its prognostic significance not fully clarified. Therefore, this meta-analysis aimed to assess the relationship between B7H3 expression and various prognostic parameters in patients with solid malignancies. PubMed, Web of Science (WOS), Cochrane, SCOPUS, and Embase databases were searched for eligible articles published until November 2024. Statistical analysis was performed using R studio (version 4.3.2). The analysis included a total of 51 eligible studies comprising 11,135 patients. Results showed that overexpression of B7H3 is a negative predictor for all examined survival outcomes: OS (HR = 1.71, 95% CI = 1.44-2.03, p < 0.0001), DFS (HR = 2.02, 95% CI = 1.49-2.73, p < 0.0001), PFS (HR = 2.10, 95% CI = 1.44-3.06, p < 0.0001), RFS (HR = 1.66, 95% CI = 1.11-2.48, p = 0.01), and DSS (HR = 1.70, 95% CI = 1.24-2.32, p < 0.01). Despite the high heterogeneity observed across the studies, the sensitivity analysis confirmed the robustness of these results. This research suggests that B7H3 may serve as an effective biomarker for prognosis in solid tumors.

Gastrointestinal (GI) cancers constitute approximately 25% of cancers worldwide. The fibroblast growth factor receptor (FGFR) family is a promising target for immunotherapy aiming  to enhance survival rates. FGFR alterations are associated with GI carcinomas. Their predictive value in different malignancies remains a focus area. While FGFR inhibitors have been approved for cholangiocarcinoma (CC) therapy, uncertainties remain regarding other GI cancers.

Oral potentially malignant disorders may precede the development of oral cancer, and biomarkers are being investigated for their risk assessment. We aim to provide updated information on tissue biomarkers related to the risk of malignant transformation (MT) in patients with oral leukoplakia (OL) published during the last four years.

The association between microRNA 17-92 cluster host gene (MIR17HG) polymorphisms and the risk of cancer has been evaluated in studies, here, we attempted to elucidate the relationship between 6 single nucleotide polymorphisms (SNPs) of MIR17HG (rs17735387 G > A, rs7336610 C > T, rs1428 C > A, rs7318578 A > C, rs72640334 C > A, and rs75267932 A > G), 3 SNPs in the promoter of MIR17HG (rs9588884 C > G, rs982873 T > C, and rs1813389 A > G) and susceptibility to cancer in Chinese Han population.