Papillary craniopharyngioma (PCP) is a rare central nervous system tumor with high recurrence and significant morbidity. The BRAF V600E mutation has emerged as a potential target for treatment, with BRAF-MEK inhibitors showing promise in early studies. However, their efficacy and safety remain uncertain due to limited data from small-scale studies and case reports. This systematic review aims to evaluate the clinical outcomes of dual BRAF-MEK inhibitor therapy in BRAF V600E-mutated PCP.

Acute myeloid leukemia (AML) accounts for 15-20% of childhood leukemia cases; however, it is characterized by very high aggressiveness and has the highest mortality rate among leukemias, with relapse rates ranging from 34% to 38%. It is a disease characterized by high molecular diversity, and the frequency of specific genetic alterations in children is different from that in adults. Furthermore, mutations and rearrangements vary with age within the pediatric population. To date, a wide spectrum of genetic alterations has already been studied, but the molecular landscape of each patient is unique. An analysis of rearrangements and mutations specific to children of different ages appears to be crucial in order to individualize diagnosis and therapy appropriately. The aim of the following review is to analyze the molecular landscape of pediatric AML by age in detail in order to prioritize therapeutic strategies dedicated to specific age groups.

Actinic keratosis (AK) is a common skin condition associated with cumulative sun exposure and advancing age. As a precursor to squamous cell carcinoma, it is clinically relevant as a target for prevention. While epidemiological studies have suggested various risk factors, causal inference is often limited by confounding. Mendelian randomization (MR), which uses genetic variants as proxies for exposures, can help address this. This review aimed to provide an overview of published MR studies that have examined AK either as an exposure or an outcome.

Ameloblastoma is a benign odontogenic tumor characterized by local aggressiveness and high recurrence rates.

Ovarian cancer remains a leading cause of gynecologic cancer mortality worldwide, largely due to late-stage diagnosis and limited early detection tools. Circulating tumor DNA (ctDNA) has emerged as a promising non-invasive biomarker with the potential to improve diagnostic accuracy through detection of tumor-specific genetic and epigenetic alterations.

This umbrella review aimed to summarize and critically evaluate systematic reviews on the applications of circulating tumor DNA (ctDNA) and microRNA in colorectal cancer (CRC).

Objectives: Cases from our hospital and a systematic review were performed in this paper to get a better understanding on the diagnosis and therapies for primary pulmonary NUT carcinoma (PPNC) patients. Methods: The clinical features, pathological diagnosis, treatment and outcomes of PPNC patients from 2020-2025, including four cases from the First Affiliated Hospital of Soochow University, were collected delicately. The Kaplan-Meier method and Cox proportional hazard regression model were used to calculate cumulative survival and prognostic factors. Results: The male-to-female ratio of PPNC was 18∶15, the left to right ratio was 14∶19, the median age was 36 years old and the median tumor diameter was 6.1 cm. Most patients were already at an advanced stage with the clinical features-cough (16/33) and chest or back pain (13/33) when they first came to the hospital. The tumor cells were arranged in nest pattern with small-medium size, round to oval shape, and nuclei were deeply stained. The high positive staining of NUT (32/32) and CK-pan (16/19) was observed, NUTM1 gene translocation in 24 cases was detected by fluorescence in situ hybridization (FISH), and different gene rearrangements were located by NGS-NUTM1-BRD4 (8/12), NUTM1-BRD3 (2/12), NUTM1-BRD2 (1/12) and NUTM1-ZNF532 (1/12). Most patients accepted different chemotherapy regimens (25/29), including paclitaxel albumin and platinum (13/25), etoposide and platinum (8/25). Meanwhile, 12 cases were treated with PD-1/PD-L1 antibody during the therapy. The median follow-up time was 7 months in 28 cases tracked from 2-90 months. Univariate Cox regression analysis showed that metastasis of this disease affected patient prognosis (HR=2.55, 95% CI: 0.974-6.677, P=0.057) and the cumulative survival rate was lower in the older ones. Conclusions: PPNC, more often found in middle-aged patients, no difference in sex, can be diagnosed by pathmorphology and immunophenotype, while NUTM1 molecular test is highly suggested for the accurate therapy. Metastasis can be recognized as the prognostic risk factor. Early detection of the cancer improves the chances of successful treatment, especially in patients with older age.

Human papillomavirus (HPV)-associated tonsillar squamous cell carcinoma (TSCC) is suggested to arise in tonsillar crypts. It also constitutes a rare exception in the literature of carcinoma development, as carcinoma in situ (CIS) is not a recognized entity and dysplastic stages are not evident. Here we investigated the evidence of this. Hence, a systematic review and meta-analysis was performed to study tumor origin. MEDLINE was searched and all original studies reporting tumor origin in HPV-associated oropharyngeal cancer were included. We also used spatial transcriptomics (10× Visium) on HPV-associated TSCC, cervical, and HPV-independent oral cancer cases. We compared tonsillar CIS to cervical high-grade intraepithelial lesion (HSIL). We studied epithelial cell gene expression across the sample types and epithelial cellular states. A trajectory analysis was performed in HPV-associated tumors. In total, 14% of all TSCC were of surface origin in the systematic review. Spatial transcriptomics revealed that tonsillar CIS and HSIL clustered with a high correlation when using a pseudo-bulk approach. Moreover, when all epithelial cells were analyzed unsupervised, ten epithelial cell clusters that correlated to histology were identified. Two of these clusters were dysplastic and occurred in all samples. A sequential progression from dysplasia to invasion was observed in both TSCC and cervical cancer in the trajectory analysis. We conclude that a subset of HPV-associated TSCC may arise from the surface and that there is a sequential progression toward invasive disease in HPV-associated TSCC, similar to that of cervical cancer. The findings suggest that pure tonsillar dysplastic lesions should hypothetically exist.

Chemoresistance is a significant issue in glioblastoma (GBM) treatment due to recurrence, poor survival and limited salvage options. Non-invasive biomarkers can identify early chemoresistance. These cohorts may benefit from initiating early chemotherapy or second-line drugs at an earlier timeline.

Cancer is a significant health burden throughout the world. Gliomas are a type of cancer with the origin of central nervous system. They are the most prevalent group of brain malignancies. Chemotherapy is an integral component of standard treatment strategies for this disease. Carmustine is regarded as one of the most effective chemotherapy drugs against different cancer types and, most importantly, Gliomas. However development of resistance to Carmustine has restricted its application. It is evidenced that non-coding RNAs, especially microRNAs (miRNAs, miRs), play significant roles in association with the occurrence of this phenomenon. In the present systematic study, the interaction mechanisms between non-coding RNAs And Carmustine in the modulation of sensitivity to this drug in cancer have been investigated. The search and analysis steps followed PRISMA guidelines. A comprehensive search was conducted across databases including PubMed, Scopus, and Web of Science. According to the opted criteria, a total of 12 studies were eligible for inclusion in the study. Up or downregulation of non-coding RNA expression levels effectively influences the biology of various signaling pathways in Glioblastoma cell lines or tumors. Eventually, these significant influences would be translated into an altered status of sensitivity to Carmustine. A deeper understanding of the underscored network of interactions could be potentially helpful for improving the efficacy of chemotherapy-based approaches against cancer.

Glioblastoma (GBM) is the most common and devastating primary malignant brain tumor. Early diagnosis and treatment are essential for improving patient outcomes, and microRNA (miRNA)-based liquid biopsies offer a promising, minimally invasive diagnostic approach. The aim of this systematic review was to evaluate the diagnostic accuracy of miRNA-based liquid biopsies for GBM.

Breast cancer remains the most common cancer among women worldwide, and recurrence rates stay high despite current treatments, especially for those with negative estrogen receptor status, where therapies are less effective, and prognosis is worse. Identifying molecules with predictive value for therapy response and prognosis is therefore crucial. In this context, FOXA1 could serve as a potential biomarker to predict the progression of ER-negative tumors. A search was conducted to answer the question, "What is the prognostic value of FOXA1 expression in breast cancer, estrogen receptor negative?" using various databases. Controlled vocabulary and Boolean operators were employed. Only studies reporting overall survival and disease-free survival, defined as the time from evaluation to death or relapse, were included. We identified seven articles evaluating FOXA1 and its relationship with disease-free survival (DFS) or overall survival (OS) in patients with ER-negative breast cancer. Our data indicate that higher FOXA1 expression is associated with improved overall survival (HR = 0.61, CI = 0.45-0.83, p < 0.002) and better disease-free survival (HR = 0.69, CI = 0.51-0.93, p < 0.02). These findings suggest that FOXA1 is linked to a favorable prognosis in terms of overall survival and disease-free survival. Further studies are needed to assess the role of FOXA1 in response to chemotherapy. PROSPERO registration number: CRD42024453750.

Non-viral head and neck squamous cell carcinoma (HNSCC) has poor survival and high recurrence rates. Circulating tumor DNA (ctDNA) is a promising biomarker for understanding tumor biology, assessing treatment response, and monitoring disease progression. While extensively studied in virally mediated HNSCC, its role in non-viral HNSCC remains underexplored. This systematic review and meta-analysis consolidates evidence on the diagnostic, prognostic, and therapeutic value of ctDNA in non-viral HNSCC. A systematic search across Medline, PubMed, Embase, and the Cochrane Library identified 1,915 records, of which 47 were included. Data extraction followed PRISMA guidelines, with overall survival (OS), progression-free survival (PFS), and recurrence-free survival (RFS), pooled as hazard ratios (HRs) with 95% confidence intervals (CIs) using a fixed-effect model. Among 3,574 patients, the most common tumor sites were the oral cavity (35 %) and oropharynx (22 %), with the majority presenting with stage IVA/IVB disease (29 %). Pre-treatment ctDNA detection rates ranged from 50 % to 100 % (median: 83 %), while post-treatment detection rates varied between 28 % and 100 % (median: 48 %). ctDNA detected recurrence in 80 % of patients, with a median lead time of 4.6 months. ctDNA detection was significantly associated with worse OS (HR 10.26, 95 % CI 3.58-29.40; P < 0.0001). Residual ctDNA was strongly correlated with worse PFS (HR 7.32, 95 % CI 4.17-12.86; P < 0.00001) and RFS (HR 7.33, 95 % CI 2.75-19.58; P < 0.0001). ctDNA holds potential for improving diagnostic accuracy, monitoring progression, and predicting survival outcomes in non-viral HNSCC. However, further large-scale studies and standardized guidelines are needed for validation and clinical implementation.

Endometrial cancer (EC) is the sixth most common female cancer and may rank fourth in cancer mortality by 2040. TP53 mutations and aberrant p53 expression are associated to aggressive tumor subtypes and poor prognosis, reducing overall survival (OS), disease-free survival, recurrence rates (RcR) and Mortality Risk (MR). The prognostic impact of TP53 mutations in EC remains unclear.

Colorectal carcinoma constitutes a predominant etiology of oncological mortality globally. This systematic review and meta-analysis elucidated the prognostic utility of circulating tumor DNA (ctDNA) as a predictive biomarker for postsurgical recurrence in colorectal cancer patients.

Precision oncology, driven by next-generation sequencing (NGS), enables the use of matched targeted therapies (MTTs) tailored to tumour-specific genomic alterations. While benefits in early-stage cancer are well-established, the impact of MTTs in relapsed or metastatic settings remains unclear. This systematic review and meta-analysis (PROSPERO ID: CRD42023471466) evaluates the efficacy and safety of NGS-guided MTTs in patients with advanced solid and haematological tumours.

Breast cancer (BC) is one of the most common malignancies among women worldwide. Despite advances in early detection and treatment, prognosis remains highly variable. Molecular biomarkers, such as microRNAs (miRNAs), have emerged as promising tools to refine prognostic assessment. Among them, miR-21 is consistently overexpressed in solid tumors and implicated in key oncogenic pathways. This systematic review and meta-analysis aimed to clarify the prognostic significance of miR-21 in BC and explore its molecular mechanisms through bioinformatic analyses. A systematic search of PubMed, Scopus, and Web of Science up to April 2025 identified 18 eligible observational studies. Pooled analyses showed that high miR-21 expression was significantly associated with poorer overall survival (OS) (HR = 2.37, 95% CI: 1.42-3.98) and recurrence-related outcomes (DFS/RFS) (HR = 2.10, 95% CI: 1.32-3.34). Subgroup analyses confirmed robust associations across different cut-off definitions and revealed particularly strong effects in triple-negative BC (HR = 5.69) and mixed subtypes (HR = 2.55), but no significant association in HER2-positive BC. Bioinformatic analysis identified target genes such as PTEN, BCL2, STAT3, and MYC, involved in apoptosis regulation, proliferation, NF-κB signaling, and immune modulation. These findings provide consistent evidence that miR-21 is a promising minimally invasive prognostic biomarker in BC, particularly in aggressive subtypes, and support its integration into future multimodal prognostic models.

Lung cancer (LC) is the leading cause of cancer-related mortality worldwide, with non-small-cell lung cancer (NSCLC) representing 85-90% of cases. Despite the efficacy of PD-1/PD-L1 immune checkpoint inhibitors, primary and acquired resistance highlight the need for novel immunotherapeutic strategies. A systematic review of the literature from 2020 to 2025 was conducted according to the PICO model. Six studies were included, encompassing phase I-III clinical trials. The analysis focused on efficacy, safety, and emerging therapeutic strategies targeting TIGIT in NSCLC. TIGIT blockade enhances cytotoxic T lymphocyte and natural killer (NK) cell activity, strengthening antitumor immunity. Clinical trials, particularly with the monoclonal antibody tiragolumab combined with PD-1/PD-L1 inhibitors, show promising synergistic effects. Emerging strategies, including bispecific antibodies (e.g., TIGIT/PD-1 and TIGIT/PD-L1) and experimental cell therapies, are under investigation to further improve the antitumor response. Anti-TIGIT therapies represent a highly promising approach in NSCLC. While phase III data remain limited, biomarker-driven, well-designed trials are essential. If validated, TIGIT blockade could become a key addition to immuno-oncology treatment strategies for NSCLC.

Immune checkpoint inhibitors (ICIs) have revolutionized the treatment of solid tumors. This meta-analysis of randomized controlled trials aimed to assess the survival benefit of anti-PD-1/PD-L1 therapies in women with advanced or recurrent endometrial cancer (EC) and mismatch repair deficiency (dMMR).

The management of gastric cancer (GC) with peritoneal metastasis (PM) remains a significant clinical challenge. Despite advances in molecular profiling, the underreporting of key molecular markers in patients undergoing surgical treatment for GC with PM is concerning. Signet ring cell (SRC) histology is associated with poor prognosis and chemoresistance, while Laurén diffuse subtype is linked to a higher risk for PM. Despite the established role of HER2 in GC progression, its impact on the efficacy of surgical treatment is not clearly defined. The lack of comprehensive reporting on these and recent molecular markers underscores the need for further research. Incorporating molecular diagnostic into clinical practice could improve the personalisation of treatment for GC with PM and overcoming important drug resistance issues, enhancing the effectiveness of current therapy approaches.