• Clinical outcomes of the tunnelized-facial artery myomucosal island flaps in the oral cavity and comparison with cutaneous flaps in an animal model.
    3 days ago
    This study aims to evaluate the clinical efficacy of tunnelized-facial artery myomucosal island flaps (t-FAMMIF) in reconstructing mucosal defects following oral cancer surgery and compare the characteristics between mucosal and cutaneous flaps.

    A total of 23 patients who underwent t-FAMMIF reconstruction were enrolled and monitored for functional recovery and complication resolution. Using propensity score matching, 20 cases were paired with a cohort of patients receiving cutaneous flaps (n=20 per group). Sensory function was assessed using the Semmes-Weinstein monofilament test and two-point discrimination tests, while motor function was evaluated with the Water Swallowing Test. Facial nerve function was assessed by House-Brackmann grading scale, wireless surface electromyography, and FaceGram software. Mouth opening was measured by maximum inter-incisal opening. Additionally, to explore the mechanisms underlying differential functional recovery, mucosal and cutaneous flaps were compared in a beagle dog model, with subsequent histological analysis.

    Compared to the cutaneous flap group, the t-FAMMIF group exhibited superior aesthetic and sensory outcomes, with facial nerve dysfunction and trismus largely resolved by 6 months. Histological analysis in the animal model revealed that mucosal flaps preserved minor salivary glands and exhibited significantly reduced scar formation, providing a tissue-level explanation for the enhanced sensory recovery observed clinically.

    T-FAMMIF is an effective option for reconstructing small to moderate mucosal defects. Compared to cutaneous flaps, it provides advantages including superior aesthetic results, enhanced sensory recovery, minimized scarring, and preservation of salivary gland function.
    Cancer
    Care/Management
  • CD5-positive diffuse large B-cell lymphoma of the uterus: a Case Report with cytologic findings from uterine cavity drainage and literature review.
    3 days ago
    Cases of diffuse large B-cell lymphoma (DLBCL) of the uterus co-expressing CD5 are exceedingly rare and diagnostically challenging due to its nonspecific clinical and radiological features, which often mimic other uterine malignancies. This study retrospectively analyzes the cytopathological and histopathological characteristics of this entity in uterine cavity drainage fluid to facilitate its recognition.

    We analyzed a case of uterine CD5-positive DLBCL by collecting clinical data, imaging findings, cytology from uterine drainage fluid, and histology from endometrial curettage. A review of the pertinent literature on uterine DLBCL was also performed.

    A 74-year-old woman presented with a two-week history of abdominal distension and anorexia. Abdominal CT demonstrated uterine enlargement with a large fluid collection and multiple enlarged abdominal lymph nodes. Cytology of the uterine drainage fluid revealed numerous atypical lymphoid cells with large, hyperchromatic nuclei, scant basophilic cytoplasm, and a high nuclear-to-cytoplasmic ratio. Histology of the curettage specimens showed a diffuse infiltrate of large lymphocytes with necrosis. The tumor cells exhibited round, oval, or irregular nuclei, coarse chromatin, and prominent nucleoli. Immunohistochemically, the cells were positive for CD20, CD79α, CD19, PAX5, CD5, Bcl-6, and MUM1, and negative for CD3, CD10, Bcl-2, CD30 and Cyclin D1. In situ hybridization for Epstein-Barr virus-encoded small RNA (EBER) was negative. The Ki-67 proliferation index was 90%. These findings supported a diagnosis of CD5-positive DLBCL, non-germinal center B-cell subtype.

    Uterus DLBCL expressing CD5 is an exceedingly rare malignancy. Its diagnosis necessitates a comprehensive approach integrating clinical presentation, imaging, cytomorphology, and immunohistochemistry. Increased awareness of the cytological features of lymphoma in uterine drainage fluid is essential to prevent diagnostic oversight.
    Cancer
    Care/Management
  • Current approach to diagnosis and treatment of focal nodular hyperplasia in children with a management algorithm.
    3 days ago
    Focal nodular hyperplasia (FNH) is a benign tumor of the liver rarely reported in children. It requires differentiation from malignant liver lesions, which are more common in the pediatric population. The pathogenesis of the disease remains unknown, but previous oncological treatment of non-liver neoplasms or vascular abnormalities may predispose to FNH development. Differential diagnosis is based on radiological imaging with rare indications for diagnostic biopsy or resection. There are no specific management guidelines for FNH in children, but in most cases watchful waiting is most appropriate. In symptomatic, rapidly growing cases, surgical or radiological intervention may be considered. In this review, we present the clinical features, natural course, and current management patterns in pediatric FNH.
    Cancer
    Care/Management
  • Accelerating real-world data collection using large language models in rare neoplasms: a bone sarcoma example.
    3 days ago
    Real-world data collection in oncology remains a challenge due to the complex and unstructured format of medical notes. Recently, large language models (LLMs) have demonstrated success in extracting information from free-text data across various domains. This study evaluates the performance of multiple small LLMs as information extractors on Polish medical notes.

    Electronic health records (EHRs) of 302 bone sarcoma patients treated in a reference center between 2016 and 2022 were selected. Five variables-pathology type, tumor size, localization, grade, and primary resection-were annotated by an experienced oncologist. Multiple prompting techniques and four LLMs were used to query the models with the task of returning the value for each variable using an XML tag. Additionally, among non-concordant values we distinguished valid results, i.e. of expected format and containing a key word/phrase from a per-variable, expert-devised list. An ensemble voting approach was applied, selecting values appearing in the majority of valid outputs.

    Single-model accuracy was modest (17.5%-30.3%) and highly prompt-dependent. The tumor localization values turned out to be the easiest to assess with an accuracy of up to 36.2%. The majority of non-concordant values were non-valid. The voting strategy improved performance significantly, with 83.6% overall accuracy, peaking at 90.0% for the resection type variable.

    Our study highlights the potential of using lightweight LLMs in the automation of data extraction from medical notes, which could significantly accelerate clinical research. A singular small LLM is not yet sufficient for real use cases in non-English settings; however, prompt engineering and ensemble methods can greatly improve performance.
    Cancer
    Care/Management
  • [Liquid Biopsy Revolutionizes the Precise Management of Tumors Across the Entire Course: Current Situation and Future Prospects].
    3 days ago
    Tumors represent a global public-health concern, accounting for approximately one-sixth of all fatalities worldwide annually. Attaining precise management of patients across all stages of diagnosis, treatment, and surveillance is not merely a significant challenge in contemporary clinical practice but also a crucial strategy for enhancing patient survival rates. In comparison with traditional testing approaches, liquid biopsy offers the benefits of being less invasive and enabling repeated sampling. Through the examination of biological specimens that can be readily and repeatedly obtained from the patient's body, liquid biopsy can furnish information throughout the entire continuum of disease diagnosis, treatment, and follow-up prognosis. Consequently, it emerges as a highly prospective substitute for tissue samples in the minimally invasive, real-time, and comprehensive monitoring of tumors in clinical contexts. This article conducts a systematic review of the common liquid biopsy markers in the oncology field and their latest detection technologies. It encompasses detection schemes for non-blood samples such as cerebrospinal fluid and feces. Moreover, it proposes a novel framework for the precise management of the entire tumor process based on "multi-marker combination + full sample coverage". The article further deliberates on a series of challenges currently encountered in developing liquid biopsy into a mature clinical testing project. These challenges include the standardization of sample testing procedures, the establishment of standardized reporting systems, and how to strike a balance between the popularity of detection methods and cost control, with the aim of promoting the development of liquid biopsy in tumor early screening, treatment innovation, and extensive application. We anticipate constructing a full-chain system spanning from basic research to transformational production and clinical application. We aim to develop an integrated detection platform, establish standardized reporting procedures and a well-established regulatory mechanism, offer patients full-cycle precise management from diagnosis to rehabilitation, and ultimately convert cancer from an "incurable disease" into a "preventable and controllable" chronic disease.
    Cancer
    Care/Management
  • [Next-Generation Sequencing-Based Detection of Gene Mutations and Its Association With Clinicopathological Features in Gastric Cancer].
    3 days ago
    To analyze the gene mutation profile of Chinese patients with gastric cancer and to explore its correlations with clinicopathological characteristics and prognosis.

    Fifty-five patients with gastric cancer were enrolled. Next-generation sequencing was performed to detect mutations in cancer-related genes, microsatellite instability, and tumor mutational burden. The associations of high-frequency mutated genes with clinicopathological features and progression-free survival (PFS) were analyzed. Key findings were validated and ethnic heterogeneity was assessed using The Cancer Genome Atlas stomach adenocarcinoma cohort (n = 436).

    Somatic mutations were identified in 85.45% (47/55) of patients. The most frequently mutated genes were TP53 (29.09%), ARID1A (16.36%), CDH1 (14.55%), LRP1B (14.55%), and PIK3CA (12.73%). TP53 mutations were associated with T4 stage (P = 0.028) and diffuse-type gastric cancer (P = 0.008). CDH1 mutations were enriched in signet-ring cell carcinoma (P = 0.012) and poorly differentiated tumors (P = 0.006). Pathogenic germline mutations were identified in 20% (11/55) of patients. Univariate survival analysis revealed that CDH1 mutation was an independent poor prognostic factor for PFS (hazard ratio = 3.110, 95% confidence interval: 3.370-20.000). Validation in The Cancer Genome Atlas cohort confirmed that the poor prognostic effect of CDH1 mutation was present only in the Asian subgroup (hazard ratio = 5.00, 95% confidence interval: 2.01-12.43), demonstrating significant ethnic heterogeneity.

    Chinese patients with gastric cancer exhibit a distinct gene mutation profile, and key gene mutations are closely associated with tumor aggressiveness. This multi-cohort validation study indicates ethnic differences in the prognostic value of genes such as CDH1, highlighting the importance of precision molecular classification in the Chinese population.
    Cancer
    Care/Management
  • [MUTYH-APEX1 Axis Promotes Hepatocellular Carcinoma Progression and Therapeutic Resistance by Regulating Cell Cycle Proteins].
    3 days ago
    To investigate the expression pattern, prognostic significance, and underlying molecular mechanisms of mutY homolog (MUTYH) in hepatocellular carcinoma (HCC), and to evaluate its clinical potential as a novel biomarker and therapeutic target.

    The differential expression of MUTYH between HCC and normal tissues was compared using the TCGA and GEO databases. Associations with clinicopathological parameters, TP53 mutation status, diagnostic efficacy of alpha-fetoprotein (AFP), and sorafenib resistance were analyzed. Prognostic impact was evaluated using the Kaplan-Meier method with the log-rank test, and univariate and multivariate Cox proportional hazards regression models were used to verify its independent prognostic value. Molecular mechanisms were explored through GO, KEGG, and GSEA enrichment analyses as well as protein-protein interaction (PPI) network construction. The correlations of MUTYH with immune cell infiltration and the immunotherapeutic efficacy of immune checkpoint inhibitors were assessed using the CIBERSORT algorithm and the BEST database. Quantitative real-time PCR (qPCR) was performed to validate the expression differences of MUTYH and its core interacting molecules between HCC and normal tissues.

    MUTYH was significantly upregulated in HCC (P < 0.05), clinical sample tests have confirmed that it can serve as a biomarker for diagnosing HCC (area under the curve [AUC] = 0.824, 95% CI: 0.762-0.886, P < 0.001), its diagnostic value remains high even in the HCC subgroup with low AFP expression (GSE25097, AUC = 0.716, P < 0.001; GSE63898, AUC = 0.624, P < 0.001). High MUTYH expression correlated with sorafenib resistance (P < 0.05) and was an independent risk factor for poor overall survival (hazard ratio [HR] = 1.92, P < 0.05). Mechanistically, MUTYH was positively associated with apurinic/apyrimidinic endonuclease 1 (APEX1) (r = 0.83, P < 0.05), potentially facilitating G1/S transition by modulating cyclin-dependent kinase 4, cyclin-dependent kinase 7, and cyclin E2. Immune analysis identified MUTYH as a predictor for anti-PD-1/PD-L1 response (IMvigor210 AUC = 0.637; Cho2020 AUC = 0.782), though no association was found with anti-CTLA-4 therapy.

    MUTYH is significantly overexpressed in HCC and may promote HCC progression by regulating APEX1 and key cell cycle molecules. Compared with the conventional marker AFP, MUTYH demonstrates superior diagnostic and prognostic evaluation efficacy and is associated with anti-PD-1/PD-L1 therapeutic response and sorafenib resistance. Overall, MUTYH has potential as a novel biomarker and therapeutic target for HCC.
    Cancer
    Care/Management
    Policy
  • [Protein Expression Levels of the DCAF4-MEN1-hTERT Axis in Patients With Colon Adenocarcinoma and Their Relationship With Clinicopathological Characteristics and Prognosis].
    3 days ago
    To explore the relationship between the expression levels of DNA damage binding protein 1 and cullin 4-related factor 4 (DCAF4) complex, which degrades the tumor suppressor menin 1 (MEN1)-human telomerase reverse transcriptase (hTERT) axis protein, and the clinicopathological characteristics and prognosis of patients with colon adenocarcinoma.

    Ninety-four patients with colon adenocarcinoma were included. The expression of DCAF4, MEN1, and hTERT in cancer tissues and adjacent tissues was detected by immunohistochemistry. The expression levels of DCAF4, MEN1, and hTERT in patients with different pathological grades and T stages were compared. Spearman rank correlation was used for correlation analysis, and survival analysis was conducted to investigate the impact of DCAF4, MEN1, and hTERT expression levels on the overall survival of patients with colon adenocarcinoma.

    The expression levels of DCAF4 and MEN1 proteins in cancer tissues of colon adenocarcinoma patients (10.83 ± 2.89; 9.71 ± 3.57) were higher than those in adjacent tissues (2.39 ± 1.57; 4.92 ± 2.71, P < 0.001). The expression level of DCAF4 in patients with grade Ⅱ colon adenocarcinoma (14.16 ± 4.67) was lower than in patients with grade Ⅲ (20.79 ± 5.06, P < 0.01), while the expression of MEN1 (10.74 ± 3.06) was higher than in patients with grade Ⅲ (8.07 ± 2.88, P < 0.001), while there was no statistically significant difference in the protein expression scores of MEN1 and hTERT between the two groups. Compared with colon adenocarcinoma patients carrying the wild-type BRAF gene (5.47 ± 1.81), those with the mutant-type BRAF gene had a higher expression score of DCAF4 protein (9.30 ± 0.42, P < 0.001). The expression of MEN1 was correlated with the positive rate of PD1 (Spearman ρ = 0.219, P = 0.034). Compared with patients in stage T2 (3.93 ± 2.47), patients in stage T3 had a higher expression score of hTERT protein (6.25 ± 3.04, P < 0.05). Survival analysis showed that the expressions of MEN1, hTERT, and DCAF4 were not significantly associated with overall survival.

    High expression of DCAF4 and hTERT, as well as low expression of MEN1, is associated with unfavorable clinical and pathological features but has no significant relationship with prognosis.
    Cancer
    Care/Management
  • Epidemiology of Primary Intracranial Neoplasms: A Single-Institute Cross-Sectional Study in Iran.
    3 days ago
    Primary central nervous system (CNS) tumors represent a diverse group of neoplasms with variable histologic features and clinical behavior. In Iran, the lack of a robust cancer registry has limited comprehensive epidemiological evaluations. This study aimed to assess the distribution, histopathological subtypes, and demographic characteristics of primary intracranial tumors diagnosed at a major referral center in Tehran.

    This retrospective cross-sectional study reviewed 1603 histologically confirmed primary CNS tumor cases diagnosed at Loghman-e-Hakim Hospital in Tehran, Iran, from 2010 to 2017. Demographic data, tumor location, histopathologic classification, and the World Health Organization (WHO) grade were extracted from pathology reports. Tumors were classified based on the 2007 and 2016 WHO CNS tumor classifications. Statistical analysis was performed using SPSS Version 23, employing chi-square and t tests with a significance level set at P < 0.05.

    The mean age of patients was 42.9 ± 17.4 years, with a slight female predominance (52.5%). The most common tumor groups were gliomas (38%) and meningiomas (37.9%). Glioblastoma (14.6%) and transitional meningioma (14.2%) were the most prevalent subtypes. Meningiomas were significantly more frequent in females (odds ratio, 3.14; 95% CI, 2.54-3.89; P < 0.001), while gliomas and embryonal tumors were more common in males. The age distribution showed that gliomas peaked in the 20-40-year-old group, whereas meningiomas were most frequent in patients aged 41-60 years. A statistically significant variation in tumor distribution by age was observed for several tumor types. An increasing trend in CNS tumor diagnoses was noted over the study period, especially for gliomas and meningiomas.

    This study provides a comprehensive overview of the epidemiological and histopathological profile of CNS tumors in a single-center Iranian cohort. The findings are consistent with global trends, particularly in the sex- and age-specific distributions of gliomas and meningiomas. The increasing incidence observed underscores the need for enhanced surveillance and a national cancer registry to improve data accuracy and healthcare planning.
    Cancer
    Care/Management
  • Efficient triage and improved patient care: Five years of teledermatology in Styria.
    3 days ago
    To improve dermatological care in underserved rural regions, the "Teledermatology in Styria" project launched on January 1st, 2020. General practitioners (GP) were digitally connected with dermatologists (DERM), supported by Styrian Health Fund, Styrian Medical Association, Austrian Health Insurance Fund Styria, Universities' Department of Dermatology, and e-derm-consult GesmbH.

    GPs submit clinical information and images (clinical, dermoscopic) of patient's skin conditions, via a "store-and-forward" service to DERM, who responded with diagnosis and treatment recommendations. The descriptive statistical analysis covered cases from five years without reference region and assessed patient and doctor acceptance through questionnaires.

    From 5,119 cases DERM changed GPs diagnosis in 51%, no diagnosis was provided by GPs in 23% and only in 25% DERM confirmed GPs diagnosis. While 19% of all cases required no therapy, most cases (61%) were managed by their GPs following teledermatological consultation. Referrals included 12% routine dermatological appointments, 3% urgent appointments, and 2% hospital visits. The case spectrum covered all dermato-venereological conditions, with only 34% neoplasms. Patient satisfaction exceeded 95%, based on 692 returned questionnaires.

    Only 17% of patients required additional dermatological examination after teledermatology. The months faster diagnosis and the high level of patient satisfaction highlight the benefits of teledermatological consultations.
    Cancer
    Care/Management