In line with recent shifts to globe-saving and vision-preserving approaches in retinoblastoma (RB), evidence demonstrated that cell-free DNA (cfDNA) from aqueous humor (AH) has emerged as a method to gain RB tumor genetic information. This analysis enables comprehensive profiling of molecular markers that may be associated with RB progression, metastasis risk, and treatment response without the need for direct tissue biopsy, which carries significant metastasis risk. Thus, this systematic review was done to synthesize evidence on molecular markers associated with RB disease progression and treatment outcomes. From literature searches across MEDLINE, Embase, Web of Science, and Scopus, covering publications within the last 10 years, up to 15 February 2025, 23 studies were included in the analysis. Findings from studies showed that MYCN, chromosome 6p gain, survivin, TFF1, UBE2C, UBE2T, AURKA, and AURKB are correlated with RB tumor progression, invasiveness, metastasis risk, and/or chemotherapy resistance. The integration of AH liquid biopsy in RB management may aid prognosis prediction and optimize treatment strategies. However, further research is needed to validate the prognostic significance.

The optimal first-line treatment for Rat Sarcorma Virus (RAS) wild-type metastatic colorectal cancer remains undetermined. Several studies have compared the efficacy of different first-line regimens, including doublet- or triplet-chemotherapy (CT) alone or in combination with targeted therapies (anti-EGFR/anti-VEGF), without conclusive results.

Early-onset gastric cancer (EOGC), diagnosed before age 50, is characterized by distinct clinicopathological features, though its molecular landscape remains poorly defined.

Ototoxicity is a dose-limiting toxicity of cisplatin. Several DNA repair gene polymorphisms have been investigated for their association with cisplatin-induced ototoxicity (CIO), but their predictive value remains controversial. This systematic review evaluated genetic predisposition to CIO via DNA repair gene polymorphisms.

This meta-analysis aimed to evaluate the association between distinct KRAS mutations and overall survival (OS) in pancreatic ductal adenocarcinoma (PDAC) patients.

Dioxins, are highly potent environmental carcinogens. Their toxic effects are mediated primarily by the Aryl Hydrocarbon Receptor (AhR). A comprehensive understanding of how AhR-induced genetic and epigenetic alterations drive carcinogenesis, especially through effects on cancer stem cells (CSCs), epithelial-mesenchymal transition (EMT) and transgenerational inheritance, remains imperative.

Current diagnostic methods in Retinoblastoma (RB) rely on clinical and radiological examinations, which remain suboptimal, as there are non-RB cases with clinical and radiological features mimicking RB, leading to enucleation, which significantly affects patients' lives. As direct tumor biopsy is contraindicated due to the risk of metastasis, cell-free DNA (cfDNA) genetic analysis using aqueous humor (AH) liquid biopsy emerged as a promising minimally invasive alternative.

Despite the availability of several validated therapies, the optimal second-line regimen for EGFR-mutant non-small cell lung cancer (NSCLC) after tyrosine kinase inhibitor (TKI) failure remains uncertain.

The primary objective of this study is to evaluate the efficacy of various pharmaceuticals (combination therapy versus monotherapy) in patients with glioblastoma (GB) with abnormal epidermal growth factor receptor (EGFR) genes. Clinical trials to investigate the therapeutic effects of different therapy was searched by PubMed, Embase, Web of Science, Cochrane Library, and Google Scholar. The Cochrane Risk of Bias Assessment Tool and data analysis software will be applied. Data collection spanned from the earliest available date up to April 2025. Eight studies involving a total of 2,137 individuals were included, with 657 of these receiving combination therapies and 1,480 receiving monotherapies. The analysis revealed that combination therapies generally demonstrated superior efficacy compared to the single ones, while monotherapies exhibited greater potency than temozolomide (TMZ). In terms of median progression-free survival (PFS), the combinations of Afatinib plus TMZ (SUCRA: 62.28%), rindopepimut (CDX-110) plus TMZ (SUCRA: 62.27%), and depatuxizumab mafodotin (Depatux M) plus TMZ (SUCRA: 54.4%) ranked among the top tier. For median overall survival (OS), the combinations of CDX-110 plus TMZ (SUCRA: 68.8%), Depatux M plus TMZ (SUCRA: 68.3%), and Nimotuzumab plus TMZ (SUCRA: 52.5%) were positioned in the upper echelon. In terms of prolonging both median PFS and median OS in GB, CDX-110 plus TMZ and Depatux M plus TMZ have shown slightly better than comparable therapies. However, further clinical trials are needed to confirm the effectiveness of other drugs in this respect.

The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) technology has recently been discovered for gene editing and cancer therapy and its applications are expanding. This review and meta-analysis aim to assess the present and future of CRISPR/Cas9 based gene editing in cancer treatment and the way forward.

Proteins have an integral role in cancer aetiology and inform cancer detection, treatment, and prognosis. While published data from prospective proteomic studies identifying early detection cancer risk markers have rapidly increased in the past five years, the landscape of evidence remains unclear. We aim to synthesise the evidence on circulating proteins and cancer risk.

Malignant tumors, as a major public health issue facing the world, have extremely complex pathogenesis. Molecular biology features represented by acidic microenvironment and lipid metabolism disorders are closely related to tumor invasion and metastasis. Traditional Chinese medicine(TCM) holds that the diseases caused by phlegm toxicity are characterized by heaviness, turbidity, stickiness, and difficulty in resolving. Modern pharmacological research has confirmed that as a TCM for resolving phlegm and detoxifying to treat phlegm toxicity, it can not only exert anti-cancer effects by directly inhibiting tumor cell proliferation but also reshape the steady-state regulatory network of the tumor microenvironment, including downregulating the microenvironment of lactate accumulation mediated by hypoxia-inducible factor 1α(HIF-1α) and regulating fatty acid synthase(FASN)-related lipid metabolism reprogramming processes, thereby antagonizing tumor invasion and metastasis. The innovative TCM theory of cancer toxicity pathogenesis proposed by our team suggests that the pathogenic characteristics of phlegm toxicity are homologous to the pathological accumulation of abnormal metabolites in the tumor microenvironment. This study systematically reviews the relevant literature on the treatment of tumors with TCM for resolving phlegm and detoxifying, deeply analyzes the theoretical basis of TCM, summarizes the clinical experience of famous TCM practitioners, and explores the clinical efficacy of TCM for resolving phlegm and detoxifying against tumors. At the same time, this study objectively summarizes its active ingredients and anti-tumor mechanisms, so as to provide reference for the prevention and treatment of malignant tumors with TCM.

Risk-stratified lung cancer screening programs identify high-risk individuals who use tobacco but do not account for underlying genetic susceptibility. Many polygenic scores (PGS) have been developed for lung cancer, but it is unclear which, if any, are suitable for identifying high-risk individuals in the general population.

BACKGROUND: Mutations in the KRAS gene serve as significant oncogenic drivers in colorectal cancer (CRC), greatly affecting therapy response and prognosis. While the prevalence and clinical significance of KRAS mutations have been extensively documented in Western populations, information from African contexts remains limited and inconsistent. Therefore, this study aimed to determine the pooled frequency of KRAS gene mutations and their relationship with the clinicopathological features of CRC patients in Africa. METHODS: A comprehensive systematic search was conducted across databases, including PubMed/MEDLINE, Embase, Scopus, Hinari, African Journals Online (AJOL), and African Index Medicus (AIM), as well as search engines and websites to identify studies reporting KRAS mutations in CRC patients throughout Africa. A random-effect meta-analysis was applied to estimate the pooled frequencies. Subgroup analysis and meta-regression were performed to identify possible sources of heterogeneity. A leave-one-out sensitivity analysis was also conducted to assess the robustness of the findings. Associations with clinical features were summarized descriptively due to the limited availability of effect size estimates. RESULTS: A total of 40 studies involving 5045 CRC patients were included. The overall pooled frequency of KRAS mutations was 39% (95% CI: 34%–44%), with substantial heterogeneity across studies (I² = 96.9%, p < 0.001). The mutation at exon 2 was the most prevalent, representing a pooled estimate of 37% (95% CI: 31%–43%) among all CRC patients. Within Exon 2, Codon 12 was the most common, with Gly12Asp at 12% (95% CI: 9%-14%) and Gly12Val at 9% (95% CI: 7%-10%) substitutions. Subgroup analysis revealed a higher mutation prevalence in North Africa (41%, 95% CI: 36%–45%). Sensitivity analyses confirmed the robustness of the results, and meta-regression showed no significant influence of publication year or sample size. Evidence of publication bias was not detected. Although quantitative pooling was limited, some studies suggested that KRAS mutations were associated with younger age, right-sided tumor location, lymph node involvement, and adverse pathological features, including lymphovascular invasion, perineural invasion, and distant metastasis. CONCLUSION: KRAS mutations were prevalent among CRC patients in Africa, with predominant exon 2 and codon 12 alterations. The findings underscore the need to expand molecular testing across African oncology centers and signify the importance of KRAS profiling to guide targeted therapies.

Lung cancer remains a life-threatening malignancy with complex pathogenesis. This paper provides a systematic review of autophagy and ferroptosis-related signaling pathways, key regulatory factors, and their associated mechanisms, including the nuclear receptor coactivator 4 (NCOA4)-mediated ferritin autophagy-ferroptosis axis, mitochondrial autophagy, lipid droplet autophagy, circadian autophagy, chaperone-mediated autophagy, etc.. The review elucidates the roles of the tumor microenvironment and non-coding RNAs in autophagy-ferroptosis processes in lung cancer. Furthermore, it explores the potential of modern drugs and active components from traditional Chinese medicine to improve lung cancer outcomes by targeting autophagy and ferroptosis, proposing that targeting their interactive pathways could offer novel therapeutic strategies for lung cancer.
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Risk-reducing bilateral mastectomy reduces the incidence of breast cancer in female carriers of the BRCA pathogenic variants, but its association with mortality remains uncertain.

Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal malignancies with a 5-year survival rate of < 13%. Standard treatments such as FOLFIRINOX or gemcitabine/nab-paclitaxel yield modest response rates, underscoring the urgent need for precision oncology approaches. Patient-derived organoids (PDOs) preserve the genomic, phenotypic, and histopathological features of the source tumor and offer a promising platform for drug screening, biomarker development, and personalized therapy. However, a systematic evaluation of their translational capacities is lacking.

Lymphomas are biologically heterogeneous malignancies with multifactorial etiologies involving genetic, environmental, and immune dysregulation. The functional variant rs1049174 SNP in the KLRK1 gene (encoding NKG2D) regulates NKG2D expression and modulates NK cells immune surveillance pathways, which may influence lymphoma susceptibility. We investigated this association through a two-stage case-control study and meta-analysis. First, we analyzed 246 diffuse large B-cell lymphoma (DLBCL) patients and 599 healthy controls (exploratory cohort), followed by a confirmatory cohort of 234 non-Hodgkin lymphoma (NHL)/Hodgkin lymphoma (HL) patients. Genotype frequencies were assessed via chi-square tests, with odds ratios (ORs) calculated for risk associations. A systematic review and meta-analysis of 10 studies, including our cohorts (3,785 cases and 4,129 controls), testing rs1049174 and cancer risk was also conducted. In the exploratory cohort, the GG genotype showed no significant association with overall lymphoma risk (OR = 0.83; 95% CI: 0.61-1.13; *p* = 0.25). However, in NHL, the GG genotype was underrepresented (OR = 0.75; 95% CI: 0.57-0.99; *p* = 0.02). Pooled lymphoma analysis revealed a protective effect (OR = 0.78; 95% CI: 0.62-0.99; *p* = 0.03). Meta-analysis confirmed a significant protective role of the GG genotype against cancer (OR = 0.71; 95% CI: 0.63-0.79), despite heterogeneity and potential publication bias. Our findings suggest that the rs1049174 GG genotype is associated with reduced lymphoma susceptibility, particularly in NHL, underscoring the importance of immunogenetic variants in lymphomagenesis. Further functional and clinical studies are needed to elucidate the mechanistic basis of this association.

BACKGROUND: The prognostic significance of high mobility group box 1 (HMGB1) expression in the non-small cell lung cancer (NSCLC) population remains controversial. This study endeavors to systematically evaluate the relation of HMGB1 expression levels to NSCLC prognosis via a comprehensive meta-analysis. METHODS: Embase, the Cochrane Library, Web of Science, as well as PubMed were retrieved for eligible studies until September 18, 2025. Two reviewers independently extracted relevant data and appraised the study quality. The study quality was examined via the Newcastle-Ottawa Scale (NOS). Hazard Ratio (HR) with corresponding confidence intervals (CIs) for survival outcomes were calculated and summarized respectively. Subgroup analysis, regression analysis, sensitivity analysis and publication bias were conducted to investigate the findings further. RESULTS: 11 studies on 4,527 NSCLC patients were encompassed. All eligible studies had high methodological quality. The pooled HR of OS was 1.08 (95% CI: 0.91–1.29, P = 0.356), suggesting no significant association of HMGB1 expression levels with NSCLC prognosis. Subgroup analysis of studies with sample sizes < 100 revealed a significant relation of high HMGB1 expression to poorer OS (HR: 1.51, 95% CI: 1.22–1.87). Conversely, when HMGB1 expression level was detected before chemotherapy, high HMGB1 expression was linked to improved OS (HR: 0.96, 95% CI: 0.93–0.99). CONCLUSION: This meta-analysis demonstrated that HMGB1 expression was not significantly associated with OS in the overall NSCLC population, but may have context-dependent prognostic value warranting further investigation.

Until recently, the widespread use of genetic markers in prostate cancer (PCa) has been limited by the complexities and cost of genomic data analysis. Artificial intelligence (AI), due to its ability to process large volumes of unstructured data, holds the potential to play a transformative role in the future of medical genetics.