Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder in women of reproductive age, associated with genetic and environmental factors, including microRNA (miRNA) gene polymorphisms.

The predictive value of tumor mutation burden (TMB) on the efficacy of immunotherapy has been confirmed in multiple cancer types in previous studies. For urothelial carcinoma (UC) patients treated with immune checkpoint inhibitors (ICIs), whether TMB is a suitable biomarker to predict the benefit of ICIs remains a matter of much debate. We conducted this meta-analysis to evaluate the role of TMB in patients with UC treated with ICIs.

To assess the relative efficacy of ivosidenib + azacitidine versus other therapies (venetoclax, glasdegib, azacitidine, decitabine and low-dose cytarabine [LDAC]) for the treatment of patients with newly diagnosed IDH1-mutated (mIDH1) acute myeloid leukemia (AML) ineligible for intensive induction chemotherapy.

TERT gene mutations play critical roles in tumor progression and have important implications in several solid tumors, including thyroid carcinoma. This study aimed to evaluate the association between TERT promoter mutations and histology and clinical features of thyroid carcinoma (TC).

Acute Myeloid Leukemia (AML) with FLT3-ITD mutations is associated with high post-transplant relapse rates. FLT3 inhibitor (FLT3i) maintenance therapy following allogeneic hematopoietic stem cell transplantation (allo-HCT) has emerged as a promising strategy to improve outcomes in this high-risk population.

Gastric cancer (GC) remains a leading cause of cancer-related mortality worldwide. CXCL12, a chemokine involved in tumor progression and metastasis, has been inconsistently associated with GC survival. This meta-analysis aimed to evaluate the prognostic significance of CXCL12 expression in GC patients. A comprehensive literature search was conducted in PubMed, Embase, and Web of Science. Observational studies assessing tumor CXCL12 expression and survival outcomes in GC patients were included. Hazard ratios (HRs) with 95% confidence intervals (CIs) were pooled using a random-effects model by incorporating heterogeneity. Ten studies comprising 1361 GC patients were included. High CXCL12 expression was significantly associated with poorer overall survival (OS) (HR: 1.85, 95% CI 1.51-2.26, p < 0.001) with mild heterogeneity (I2 = 17%). Subgroup analyses revealed that the association between high CXCL12 expression and OS was stronger in studies defining high expression as above the median density value (HR: 2.63, 95% CI 1.79-3.86) than in those using any positive expression (HR: 1.61, 95% CI 1.30-2.00; p for subgroup difference = 0.03). Additionally, a more pronounced association was observed in studies with follow-up durations ≥ 36 months (HR: 2.42, 95% CI 1.84-3.18) compared to those with < 36 months (HR: 1.59, 95% CI 1.28-1.99; p = 0.03). The pooled results also indicated an association between high CXCL12 expression and worse progression-free survival (PFS) (HR: 1.52, 95% CI 1.05-2.20, p = 0.03). High CXCL12 expression is associated with poorer survival outcomes in GC patients.

Preconceptions exist regarding the association between obesity and the propensity to develop estrogen receptor positive (ER+) cancer. There is limited data assessing the impact of body mass index (BMI) on 21-gene recurrence score (RS) results.

Polycystic ovary syndrome (PCOS) has been extensively studied as a common female endocrine disease. In recent years, the relationship between circadian rhythm and PCOS has gradually drawn attention, although the precise nature of this connection remains unclear. The aim of this study was to explore further links between circadian rhythm and PCOS and to identify potential mediators of the pathogenesis of PCOS.

This study utilized Mendelian randomization (MR) to investigate the causal relationship between circulating plasma proteins and lung adenocarcinoma.

Hepatoblastoma (HB) is a rare embryonal liver tumor, with an increasing global incidence that underscores the need to understand its genetic etiology.

Prostate-specific antigen (PSA) has served as a screening tool for prostate cancer (PCa) for over 30 years, but its low specificity remains a significant limitation. Liquid biopsy based on promoter methylation, an epigenetic modification, holds significant potential to complement PSA testing and enhance the diagnostic accuracy of PCa. Our objective was to assess the diagnostic accuracy of liquid biopsy for promoter methylation in PCa.

Genetic counseling has been proven to be effective for several conditions in relation to outcomes such as risk perception and knowledge. By statistically combining data from individual studies, a meta-analysis can provide a precise estimate of an intervention's overall effect. The aim of this quantitative meta-analysis was to assess the efficacy of genetic counseling for familial colorectal cancer and to explore characteristics that might influence the direction or magnitude of the relationship between the intervention and the outcome. We conducted an electronic search of literature published until March 2024. This identified 3150 articles, 30 of which met the inclusion criteria. Effect size parameters and sample sizes for all variables in each study were included. Results showed that genetic counseling has an overall statistically significant effect size of small magnitude (d = 0.234). Results indicate that genetic counseling is effective for affective (d = 0.162), cognitive (d = 0.298), and behavioral outcomes (d = 0.539); for individuals with a personal and/or family history; whether testing is diagnostic or predictive; and, with the exception of uncertain/uninformative results (4 studies), regardless of the testing results. Also, clinical/research teams that included a genetic counselor generated a significantly larger effect compared to teams without a genetic counselor. Our analysis showed that genetic counseling is effective for familial colorectal cancer. These results should encourage theoretical analyses and empirical studies exploring the process and rationale of genetic counseling from a more programmatic perspective.

Lung cancer (LC) is the most incident malignancy and a leading cause of cancer-related fatalities. The lack of dissemination of effective screening tools hinders early detection, resulting in late-stage diagnosis, mostly associated with high mortality. Gene-specific methylation alterations detected in plasma or serum circulation cell-free DNA (ccfDNA) have been investigated as a possible screening tool. Thus, the main aim of this systematic review and meta-analysis was to critically assess published data on the use of ccfDNA methylation-based biomarkers for detection of LC. PubMed, including MEDLINE and Scopus databases, were systematically searched for eligible articles evaluating the diagnostic performance of ccfDNA methylation alterations in that setting. A bivariate random-effect model was employed to calculate pool estimated sensitivity and specificity. Accuracy subgroup analyses, according to histological subtype, stage, and smoker status were carried out. A total of 1961 articles were retrieved, of which 44 met inclusion criteria. The meta-analysis generated a pooled sensitivity of 54% (CI 95% 48-60%) and a pooled specificity of 86% (CI 95% 83-87%) for LC detection. The most frequently tested host-genome methylation markers were RASSF1 A, APC, SHOX2, SOX17, and HOXA9. Overall, methylation analysis of ccfDNA detects LC with high specificity but modest sensitivity. Further research is required to improve diagnostic performance, establish methodological standards and determine whether this might complement existing screening strategies to increase effectiveness. Systematic review registration PROSPERO CRD42023408964.

This systematic review and meta-analysis aimed to compare the survival outcomes and cytogenetic profile of primary acute lymphoblastic leukemia (p-ALL) and secondary ALL (s-ALL), including antecedent-malignancy ALL (am-ALL) and therapy-related ALL (tr-ALL). The search was performed in PubMed/MEDLINE, Scopus, Web of Science, Embase, and ProQuest databases from January 1, 1990, to July 31, 2023, using the keywords "acute lymphoblastic leukemia" and "second cancer" to identify cohort studies that compared p-ALL and s-ALL in terms of survival outcomes and cytogenetic profile. The risk of bias in the included studies was assessed using the Joanna Briggs Institute (JBI) for Cohort Studies. A total of 7 studies involving 13,542 participants were analyzed. The results revealed an HR of 2.35 (95%CI:1.38-4.01) for overall survival (OS) and 2.06 (95%CI:1.05-4.06) for relapse-free survival (RFS). Subgroup analysis of tr-ALL patients showed a significantly higher HR of 3.40 (95%CI:2.32-4.99) for OS in this subgroup. Furthermore, the meta-analysis indicated an OR of 3.45 and 5.90 for mixed lineage rearrangement (MLL) and hypodiploidy, respectively. The study highlights the need for a better understanding of the survival rates and cytogenetic profile of secondary ALL, particularly tr-ALL, and the importance of personalized treatment strategies for this subtype.

Epidemiological studies have demonstrated that inflammatory cytokines are associated with cancer development. However, the causal relationship between inflammatory cytokines and glioblastoma remains unclear. We used a two-sample Mendelian randomization approach to determine the potential causal effects of inflammatory cytokines on glioblastoma. Genome-wide association study summary statistics for 41 inflammatory cytokines were obtained from the University of Bristol database, and 91 inflammatory cytokines were acquired from the genome-wide association study catalog database. Genetic data on glioblastoma were downloaded from the FinnGen consortium (R10). Mendelian randomization analysis and Bayesian weighted Mendelian randomization analysis were performed to investigate the causal relationship between inflammatory cytokines and glioblastoma risk. A combination of Mendelian randomization (MR)-Egger, MR-Pleiotropy Residual Sum and Outliers, and Radial MR methods was employed to assess horizontal pleiotropy, which is a potential bias in MR studies. The Cochran Q test was used to quantify the degree of heterogeneity. Finally, we conducted a comprehensive meta-analysis to confirm the robustness of our findings. Increased levels of tumor necrosis factor β (odds ratio [OR] = 1.597, 95% CI: 1.143-2.230, P = .006) and interleukin-10 (OR = 1.452, 95% CI: 1.059-1.992, P = .021) were associated with an increased risk of glioblastoma. Conversely, higher levels of circulating fibroblast growth factor 21 (OR = 0.456, 95% CI: 0.276-0.754, P = .002) and macrophage inflammatory protein 1a (OR = 0.743, 95% CI: 0.558-0.990, P = .042) were associated with a decreased risk of glioblastoma. No significant causal effect on inflammatory cytokines from glioblastoma was detected, and no significant heterogeneity in instrumental variables or horizontal pleiotropy was observed. Our findings indicate that specific inflammatory cytokines may play a role in glioblastoma development, acting as either protective factors or risk factors. This offers valuable insights into the disease mechanism and suggests that targeting these cytokines could be a potential strategy for glioblastoma prevention and treatment.

Identify differential alternative splicing (DAS) events and their role in retinoblastoma (RB) progression.

Survivin (BIRC5) is an anti-apoptosis protein over expressed in most cancers and associated with poor clinical outcomes. We have provided an updated meta-analysis of -31G/C (rs9904341) gene polymorphism which is highly associated with cancer risk.

MicroRNA (miRNA) single nucleotide polymorphisms (miRNA-SNPs) have been associated with pediatric acute lymphoblastic leukemia (ALL). However, since the results of these individual studies have been inconsistent, we performed a meta-analysis to help establish a statistical significance for the association between miRNA-SNPs and pediatric ALL risk. We also analyzed whether they confer susceptibility across country-specific studies by using different genetic models.

Nucleophosmin 1 (NPM1) mutation is commonly associated with a favorable prognosis in acute myeloid leukemia (AML). Conversely, secondary mutations such as those in ASXL1, RUNX1, EZH2, and SRSF2 are generally linked to poor outcomes. The combined prognostic impact of NPM1 and secondary mutations in AML patients remains unclear. This meta-analysis aimed to evaluate the prognostic significance of secondary mutations in AML patients harboring NPM1 mutation. A systematic literature search was conducted following PRISMA guidelines, identifying studies published up to June 2024 from databases such as PubMed, Web of Science, and the Cochrane Library. The inclusion criteria included adult AML patients with confirmed NPM1 mutation, detailed reporting of secondary mutations, and comparative prognostic outcomes. Fourteen high-quality studies from twelve publications were included, encompassing 4,022 patients who all carried NPM1 mutations; among these, 618 also harbored secondary mutations. Data extraction and quality assessment were performed independently by two researchers via the Newcastle-Ottawa Scale (NOS). Statistical analyses involved fixed-effects models due to low heterogeneity (I²=0% for OS and I²=35% for EFS/RFS). Publication bias and sensitivity analyses confirmed the robustness of the findings. Secondary mutations were not significantly associated with OS (HR = 1.16, 95% CI: 0.99-1.35, p = 0.07) or EFS/RFS (HR = 1.15, 95% CI: 0.96-1.38, p = 0.14) in the overall NPM1-mutated AML population. However, within the European LeukemiaNet (ELN) favorable prognosis group, the presence of secondary mutations was significantly associated with reduced OS (HR = 1.95, 95% CI: 1.39-2.73, p < 0.01). Subgroup analyses based on median age, geographical region, and allogeneic hematopoietic stem cell transplantation (allo-HSCT) rates did not reveal significant modifiers of the prognostic impact of secondary mutations. Secondary mutations do not significantly adversely affect OS or EFS/RFS in the general population of AML patients with NPM1 mutation. Notably, within the ELN favorable prognosis group, secondary mutations are associated with markedly poorer OS, highlighting the need for careful prognostic assessment and potential treatment strategy adjustments in this subset of patients.

The prevalence and prognostic value of programmed death ligand 1 (PD-L1) expression, as a potential biomarker in vulvar squamous cell carcinomas (VSCCs), remain underexplored. We searched the PubMed, Scopus, Embase, and Cochrane Library databases until July 2024 for articles examining PD-L1 expression in VSCCs. Random-effects meta-analyses summarized PD-L1 expression overall and in subgroups by immunohistochemistry antibody type, positivity cutoff, tumor stage, and HPV positivity. Additionally, random-effects meta-analyses summarized the association between PD-L1 positivity and cancer prognosis. We included 26 studies comprising 1912 VSCC cases. The summary PD-L1 positivity rate in tumor cells was 59.9% (95% confidence interval [CI]: 47.7-71.4%; I2 = 96%, n = 26), influenced by the different cutoff thresholds utilized to define PD-L1 positivity. Compared to tumor cells, positivity rates were higher in intratumoral immune cells (75.6%; 95%CI: 52.9-92.5; I2 = 95.4%, n = 6) and peritumoral cells (78.9%; 95%CI: 54.4-95.5%; I2 = 91%, n = 3) but with overlapping 95%CIs. No heterogeneity was observed in the rates by tumor stage or HPV status. Positive PD-L1 expression was associated with worse overall (hazard ratio [HR] = 1.43; 95%CI: 1.06-1.93; I2 = 28.9%, n = 7) and progression-free survival (HR = 1.57; 95%CI: 1.07-2.3; I2 = 38.3%, n = 5). The PD-L1 expression rate in VSCC tumor cells varied across studies, was influenced by differences in immunohistochemical evaluation, and was identified as an unfavorable prognostic factor. Large, prospective, multicenter studies with standardized protocols are crucial to further elucidate the clinical significance of PD-L1 expression in VSCCs.