Both dabrafenib and trametinib (D + T) and anti-PD(L)1s have been shown to improve recurrence-free survival (RFS) in patients with stage III or resected stage IV BRAF-mutant melanoma. However, no randomized controlled trials (RCTs) have directly compared them in the adjuvant setting, creating uncertainties about the optimal approach. This systematic review and meta-analysis address this knowledge gap.

Vitamin intake may reduce gastrointestinal cancer risk, but how genetic polymorphisms in vitamin metabolism affect this association remains unclarified. This meta-analysis examined whether genetic polymorphisms in vitamin metabolism influence the association between dietary and circulating vitamins and the risk of gastrointestinal cancers.

Urinary tumor DNA (utDNA) has emerged as a promising biomarker in the care, diagnosis, early detection, recurrence monitoring, and prognosis of bladder cancer (BCa). Its noninvasive nature, ease of access, and cost effectiveness make it an attractive option for both patients and health care providers. This review describes the current state of utDNA as a marker of BCa.

In this study, we aimed to evaluate the prognostic impact of molecular alterations beyond those included in the Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE), in order to identify biomarkers that could improve prognostic stratification within the No Specific Molecular Profile (NSMP) subgroup of endometrial cancers.

Despite optimal therapy, high-grade glioma (HGG) still has a very unfavorable prognosis. Gross-total resection is not often possible, and even when it is, many patients still succumb to the disease due to resistance to temozolomide (TMZ) and radiotherapy. As the mechanism behind such resistance is multifactorial, microribonucleic acids (miRNAs) with their wide-ranging epigenetic effects on cancer have emerged as potential research targets. Among others, miRNA-10b and miRNA-21 are the most widely studied miRNAs in HGG. In this review, the authors aimed to investigate the role and predictive value of miRNA-10b and miRNA-21 in TMZ and radiotherapy resistance in HGG patients.

The aim of this systematic review is to identify all genome-wide association study (GWAS)-based polygenic risk score (PRS) studies (with different PRS approaches) reported in African ancestry populations diagnosed with any type of cancer. Additionally, this review assessed the role of PRS in advancing precision medicine through its clinical utility across different cancer types in African populations.

The response to systemic therapy against metastatic colorectal cancer (mCRC) is currently assessed by radiologic imaging. However, an increasing number of studies have shown that circulating tumor DNA (ctDNA) as liquid biopsy can be used as an alternative method to assess therapy efficacy. We conducted a systematic review with subsequent meta-analysis of primary studies to assess the prognostic value of sequential liquid biopsies in patients with metastatic colorectal cancer treated with systemic therapy.

This study attempts to summarize current knowledge about the carcinogenic potential of alternative tobacco products: electronic cigarettes (ECs), heat-not-burn (HnB) cigarettes and snus/nicotine pouches (NPs). We focus on determining the effect of such products on epigenetic alteration, especially for genes and pathways which are fundamental for cancer development.

Brain metastasis is a common and serious complication in patients with non-small cell lung cancer (NSCLC), often associated with poor prognosis. While traditional diagnostic approaches such as magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) cytology are commonly used for detection, these methods have notable limitations. Circulating tumor DNA (ctDNA) in CSF has been reported as a superior alternative. This study evaluates the diagnostic test accuracy of CSF ctDNA for CNS metastases detection in patients with NSCLC, in comparison to CSF cytology, while also examining its potential prognostic value.

Almost 60 % of breast cancers (BCs) diagnosed in germline BRCA1/2 mutation (gBRCAm) carriers are HR+/HER2-. Sparse data suggest limited CDK4/6 inhibitors benefit among gBRCAm carriers. However, prespecified subgroup analyses from pivotal trials are lacking, and current data quality is poor given the small patient populations.

Methylthioadenosine phosphorylase (MTAP) deficiency is observed across multiple cancers and represents an emerging biomarker with therapeutic potential via synthetic lethality with PRMT5 inhibition. This systematic literature review summarizes the prevalence of MTAP deletions or loss of expression and prognostic impacts of MTAP deletions or loss in adult and pediatric patients with specific solid or hematologic cancers.

Ependymomas are categorized based on anatomical location and specific genetic alterations, with extra-axial metastasis being a rare event, occurring in less than 1% of cases and documented sparsely in the literature. This case study details a 27-year-old male patient diagnosed with supratentorial ependymoma characterized by Zinc Finger Translocation Associated (ZFTA) fusion and World Health Organization (WHO) Grade 2 morphology. Additionally, a systematic review of all reported cases of extra-axial ependymoma metastases was conducted, systematically compiling clinical, morphological, and molecular data from relevant articles. Metastatic ependymoma represents a rare occurrence characterized by diagnostic and therapeutic challenges. A comprehensive review of the literature could provide valuable insights into the underlying biology and support the selection of optimal treatment strategies for such cases.

LC continues to be the leading cause of cancer mortality globally, among both males and females, representing a major public health challenge. The impact of mitochondria on human health and disease is a rapidly growing focus in scientific research, due to their critical roles in cellular survival and death. Mitochondria play an important role in controlling imperative cellular parameters, and alterations in mtDNAcn might be crucial for LC development. MtDNAcn has been studied as a possible marker for LC risk, but its role in prevention is still unclear. This review and meta-analysis aims to summarize the current evidence and provide an overall estimate of the relationship between the mtDNA copy number in human samples like blood and sputum. PubMed, Web of Science, and Scopus databases were used for studies published up to February 2024, following PRISMA and MOOSE guidelines. Studies were combined using a random-effects model, and we assessed the heterogeneity between studies with the chi-square-based Cochran's Q statistic and the I2 statistic. Publication bias was checked using Begg's and Egger's tests. Five studies, including a total of 3.748 participants, met the eligibility criteria. The MtDNA copy number was measured in blood or sputum samples and compared across different quantiles. The pooled analysis did not find a significant association between the mtDNA copy number and LC risk (OR = 0.94; 95% CI: 0.49-1.78). Moreover, when looking at different study designs, no significant results were found, due to the small number of studies available. No significant publication bias was detected. Further studies are needed to better understand the connection between the mtDNA copy number and LC risk and to better understand the role of potential confounders.

The omega class of glutathione transferases (GSTOs) includes two enzymes that catalyze atypical reactions, influencing key cellular processes such as cell survival, proliferation, drug resistance, and inflammation. In recent years, numerous studies have focused on GSTOs' role and on the significance of their polymorphisms in cancer risk and progression; though findings have been somewhat inconsistent. This systematic review aims to critically evaluate the current literature to determine whether GSTOs' polymorphisms may represent significant contributors to tumor progression, by analyzing their association with severity, mortality, and disease progression across different cancer types. Although for some types of neoplasms the studies reporting positive correlations are the majority, the role of GSTOs' polymorphisms in cancer remains inconclusive due to conflicting findings, limited data on rare variants, and multiple confounding factors; further research is needed to clarify their tissue-specific and context-dependent effects.

Hepatocellular adenomas are rare benign liver tumors primarily affecting young women, particularly those using oral contraceptives. This systematic review and meta-analysis aimed to evaluate the radiologic features of beta-catenin mutated HCAs with a focus on enhancing diagnostic accuracy and informing management strategies. A comprehensive search of databases yielded 328 articles, with 13 meeting inclusion criteria. The analysis included 94 B-HCAs, revealing a mean size of 6.46 cm and a notable prevalence of necrosis (32.65%). Imaging characteristics demonstrated that T1-weighted MRI showed isointensity in 47% and hypointensity in 36% of lesions, while T2-weighted MRI indicated iso-mild hyperintensity in 60% and hyperintensity in 38%. In the arterial phase, 87% of lesions exhibited hyperenhancement. The presence of a central scar was noted in 47.05% of cases, while the atoll sign and intralesional hemorrhage were less common. The study found a significant tendency for malignant transformation, with 47.72% of B-HCAs evolving into malignant lesions. The findings suggest that B-HCAs may present features similar to focal nodular hyperplasia, complicating diagnosis. Given the high risk of malignancy, management strategies for B-HCAs should align with those for hepatocellular carcinoma. This review underscores the importance of comprehensive MRI evaluation and clinical context in diagnosing B-HCAs, advocating for cautious interpretation of imaging findings to guide potential biopsy decisions.

Hepatocellular carcinoma (HCC) is a leading cause of cancer-related mortality worldwide, particularly in Asia. Despite therapeutic advancements, the prognosis of HCC remains poor. MicroRNAs have emerged as potential biomarkers for HCC prognosis and therapeutic response. This systematic review and meta-analysis examined the association between circulating miR-542-3p levels and HCC progression. Seven studies on HCC and miR-542-3p were selected for the meta-analysis. miR-542-3p showed significant diagnostic potential for HCC prognosis and therapeutic evaluation. Two independent researchers performed data extraction and used the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) method to assess the quality and risk of bias of the included studies. After the meta-analysis, human miRNA pattern analysis was conducted using the miRBase database, and the expression of miR-542-3p was confirmed based on the results obtained from the human miRNA profile in the tissue atlas database. miR-542-3p has been shown to have significant diagnostic potential for HCC prognosis and therapeutic evaluation. The pooled sensitivity was 0.79 (95% CI, 0.75-0.83), while the pooled specificity was 0.34 (95% CI, 0.29-0.40). The diagnostic odds ratio was 7.2, with an AUC of 0.806, indicating moderate diagnostic accuracy. Network analysis in miRBase links miR-542-3p to liver function, and its location on the X chromosome allows its expression in both sexes, making it widely applicable for the diagnosis of HCC. Thus, miR-542-3p has potential as a prognostic biomarker for HCC, with prospects for integration into therapeutic strategies. Future studies should explore the combination of this with targeted therapies to improve patient outcomes.

Postcolonoscopy colorectal cancers (PCCRCs) are an adverse outcome associated with missed lesions and incomplete polypectomy. However, their molecular features have not been systematically reviewed.

Isocitrate dehydrogenase 1 (IDH1) mutations have gained interest because of their association with malignancies, including cholangiocarcinoma and acute myeloid leukemia. Ivosidenib, an inhibitor of IDH1 mutations, inhibits the formation of the oncometabolite D-2-HG, restoring normal cellular turnover and inhibiting tumorigenesis. In July 2024, a literature search was done using these databases: PubMed, Cochrane Library, and Embase. Studies were to show the safety and efficacy of ivosidenib using 95% confidence intervals (CIs). Preferred Reporting Items for Systematic reviews and Meta-Analyses flow guidelines were followed. Four articles involving 533 patients were included. The objective response rate (ORR) and progression-free survival (PFS) were significantly improved in the control group where risk ratio was 0.79, 95% CI: 0.71-0.89, Z = 4.05, a P value less than 0.001 for PFS, and odds ratio was 0.45, 95% CI: 0.30-0.68, Z value of 3.86, and P = 0.001 for ORR. The safety profile was favorable. Overall survival (OS) did not change significantly within the groups, as indicated by a P value of 0.78, risk ratio of 0.98, 95% CI: 0.83-1.15, and Z = 0.27. Ivosidenib demonstrated a PFS advantage and improved ORR with a favorable safety profile, but no effect on the OS. Evidence is suggestive of its plausibility for clinical usage as an adjunct therapy.

BACKGROUND: Fumarate hydratase (FH) is a key mitochondrial enzyme in the tricarboxylic acid (TCA) cycle, catalyzing the reversible hydration of fumarate to malate, thereby facilitating aerobic ATP production and maintaining metabolic homeostasis. Germline pathogenic or likely pathogenic variants in the FH gene are strongly linked to hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a rare hereditary cancer syndrome characterized by cutaneous and/or uterine leiomyomas and a markedly increased risk of renal cell carcinoma (RCC). These variants span a wide spectrum of genetic alterations, including missense, nonsense, frameshift, splice-site variants, as well as large genomic deletions. However, the relationship between specific pathogenic FH variant subtypes and the risk of developing HLRCC-associated RCC remains unclear. Therefore, this study systematically reviewed the existing literatures and conducted a meta-analysis to preliminarily explore the potential role of different functional subtypes of FH variants in the development of HLRCC-associated RCC, providing a basis for future clinical risk stratification and personalized surveillance strategies. METHODS: We systematically searched 4 major electronic databases—PubMed/MEDLINE, Embase, Scopus, and Web of Science—for relevant studies. To evaluate the association between pathogenic or likely pathogenic FH variant subtypes (Missense vs. Loss-of-Function (LOF)) and the risk of HLRCC-associated RCC, we performed a fixed-effects meta-analysis based on unadjusted odds ratios (ORs). In addition, exploratory subgroup analyses were performed by geographic region (North America and Europe), histological subtype (particularly type II papillary RCC (Type II PRCC)), tumor characteristics (such as distant metastasis and clinical stage), and study design (variant/gene-first vs. phenotype-first). These stratifications were intended to assess whether clinical or methodological features might modulate the observed associations and to provide context for future hypothesis-driven research. All statistical tests were two-sided, and heterogeneity was assessed using standard metrics. Effect estimates are reported as ORs with corresponding 95% confidence intervals (CIs). RESULTS: Individuals harboring pathogenic or likely pathogenic FH LOF variants exhibited a significantly higher risk of developing HLRCC-associated RCC compared to those harboring missense variants (OR = 1.75, 95% CI: 1.28 to 2.38, p < 0.001). Subgroup analysis by geographic region showed a significant association in North American cohorts (OR = 1.64, 95% CI: 1.11 to 2.43, p < 0.05), while the association was not statistically significant in European cohorts (OR = 1.11, 95% CI: 0.57 to 2.17, p > 0.05). Stratification by study design further revealed a stronger association in variant-first or gene-first cohorts (OR = 1.62, 95% CI: 1.03 to 2.55, p < 0.05), while no significant association was observed in phenotype-first cohorts (OR = 1.34, 95% CI: 0.81 to 2.22, p > 0.05). Among patients diagnosed with HLRCC-associated RCC, those with LOF variants were more likely to present with advanced-stage disease at diagnosis. In contrast, patients with missense variants were more frequently associated with Type II PRCC and exhibited a higher propensity for distant metastasis. CONCLUSION: This meta-analysis suggests that individuals harboring pathogenic or likely pathogenic FH LOF variants may have an approximately 1.75-fold higher risk of developing HLRCC-associated RCC compared to those with missense variants. While the pooled effect was statistically significant, subgroup analyses revealed regional and ascertainment-related differences, indicating potential underlying heterogeneity. These findings underscore the potential utility of FH variant subtypes as biomarkers for individualized risk assessment. Further prospective studies are warranted to validate these associations and guide surveillance strategies in hereditary renal cancer syndromes.

The elucidation of prostate cancer biology and genomics has led to new therapies improving disease outcomes with novel androgen receptor (AR) pathway inhibitors (ARPIs), taxanes, and targeted therapeutics that require disease molecular stratification.