Search Results (493)

Background/Objectives: Fibroepithelial tumors (FETs) of the breast, including fibroadenomas (FAs) and phyllodes tumors (PTs), are among the most common breast masses encountered by breast radiologists and pathologists. Differentiating FAs from benign or borderline PTs can be challenging, especially on core biopsy specimens where sampling limitations obscure key histologic features. Although imaging techniques provide useful diagnostic context, their predictive accuracy for pathologic classification remains limited. Methods: We conducted a single-institution pilot study to assess whether tumor growth rate (TGR) derived from serial imaging could serve as a noninvasive correlate of histopathologic outcomes in FETs. Thirty-two patients with serial imaging and subsequent surgical excision (January 2020–May 2025) were analyzed. TGR, expressed as percentage volume increase per month, was calculated from diameter-based volumetrics. Results: The cohort included conventional FA (n = 10), cellular FA (n = 4), benign PT (n = 8), borderline PT (n = 6), and malignant PT (n = 4). Malignant PTs demonstrated significantly higher median TGRs (180.4%/month) and shorter imaging intervals (1.1 months) compared with other groups (p = 0.0357 and p = 0.005, respectively). These large effect-size differences suggest clinically meaningful growth dynamics. Conclusions: As a pilot, this study establishes foundational variance and effect-size estimates for powering a multicenter trial. If validated, TGR may provide an objective, noninvasive metric to enhance preoperative risk stratification and guide management of breast FETs. Full article

Objectives: This study aimed to evaluate the diagnostic value of presepsin in differentiating benign and malignant causes of cervical lymphadenopathy and to compare its performance with conventional inflammatory markers, including C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and neutrophil-to-lymphocyte ratio (NLR). Methods: A total of 76 individuals were enrolled, including 52 patients who underwent excisional biopsy for cervical lymphadenopathy and 24 healthy controls. Serum presepsin, CRP, ESR, and complete blood count parameters were measured preoperatively. Patients were classified according to histopathological diagnosis as reactive, granulomatous, or malignant lymphadenopathy. Correlation and receiver operating characteristic (ROC) analyses were performed to assess the diagnostic performance of biomarkers. Results: Median presepsin, CRP, ESR, NLR, and monocyte-to-lymphocyte ratio (MLR) levels were significantly higher in the patient group compared with controls (all p < 0.001). Presepsin levels correlated positively with CRP (r = 0.42), ESR (r = 0.38), and NLR (r = 0.36). Although subgroup analysis revealed no statistically significant differences in presepsin levels among reactive, granulomatous, and malignant cases (p = 0.50), ROC analysis demonstrated the highest diagnostic accuracy for presepsin (AUC = 0.85), followed by CRP (AUC = 0.78), ESR (AUC = 0.74), and NLR (AUC = 0.72). A presepsin threshold of >210 pg/mL predicted malignancy with 82.4% sensitivity and 78.6% specificity. Conclusions: Presepsin provides an objective and noninvasive tool that complements traditional inflammatory markers in the diagnostic evaluation of cervical lymphadenopathy. Its superior diagnostic performance for malignancy prediction suggests potential utility in guiding biopsy decisions and avoiding unnecessary surgical procedures in benign cases. Full article

Background: Site-specific long-term outcomes, including neurofibromatosis type 1 (NF1), Ki-67 prognostic value, and very late recurrences of small bowel gastrointestinal stromal tumors (GISTs), remain inadequately defined. Methods: This retrospective cohort study investigated the clinical characteristics, diagnostic challenges, and long-term outcomes of patients with small bowel GISTs. This retrospective, single-center study (2008–2024) analyzed 27 consecutive patients (average age: 62.2 years) with jejunal/ileal GISTs. Clinicopathologic features, diagnostic yield of balloon-assisted enteroscopy (BAE), treatments, and outcomes were evaluated during a 10.2-year median follow-up period. Recurrence-free survival (RFS) and overall survival (OS) were estimated by Kaplan–Meier with log-rank testing. Ki-67 was assessed using MIB-1; a prespecified 5% cut-off was chosen based on prior evidence. Results: Tumor (mean size, 62.4 mm) sites included the jejunum (74.1%) and ileum (25.9%). NF1 was present in 3/27 (11.1%) patients, all with multiple jejunal tumors. Among the 14 patients who underwent BAE, biopsy was attempted in six and yielded a histological diagnosis in one (16.7%). Six patients had recurrence; two died from disease >10 years postoperatively. Five-year OS and RFS were 91.3% and 68.7%, respectively. Adverse RFS was associated with ileal location (p = 0.03), size ≥ 10 cm (p < 0.001), mitoses > 5/50 high-power fields (p = 0.002), and Ki-67 ≥ 5% (p < 0.001). One patient labeled low risk by conventional models had recurrence with Ki-67 = 10%. Another classified as low risk by conventional models experienced recurrence >10 years after surgery, with a Ki-67 index of 10%. Conclusions: Extended, risk-adapted surveillance may be reasonable for small-bowel GISTs, and it may be beneficial to incorporate Ki-67 (≥5%) into site-based risk stratification. These observations remain hypothesis-generating and require validation in larger, multicenter cohorts and prospective studies. Full article

Background: Soft tissue tumors (STTs) represent a heterogeneous group of rare lesions that frequently mimic bone sarcomas in both clinical and radiologic appearance. Accurate differentiation between benign and malignant lesions is critical for appropriate treatment planning, yet conventional imaging often remains inconclusive. Ultrasound (US) elastography, a non-invasive method that quantifies tissue stiffness, has recently emerged as a potential adjunct to standard musculoskeletal imaging for improving diagnostic confidence and guiding biopsy. Methods: A systematic review was conducted in accordance with PRISMA guidelines. PubMed, Web of Science, and Cochrane Library were searched using the keywords “elastography”, “sonoelastography”, and “soft tissue tumor”. Twelve studies encompassing 1554 patients met the inclusion criteria, assessing the diagnostic accuracy of strain, compression, and shear wave elastography for differentiating benign from malignant STTs. Results: Elastography alone demonstrated limited specificity when used as a single diagnostic technique. However, its integration into multiparametric ultrasound approaches—combining grayscale, Doppler, and contrast-enhanced imaging—significantly improved diagnostic performance. Several studies reported sensitivities and specificities exceeding 85% when elastographic parameters were incorporated into composite diagnostic scores. Conclusions: Ultrasound elastography shows promise as a quantitative imaging biomarker for the preoperative evaluation of musculoskeletal tumors, particularly in distinguishing soft tissue from bone-related lesions. Although not a substitute for histopathological confirmation, its application within multimodal ultrasound protocols may reduce unnecessary biopsies, enhance diagnostic accuracy, and facilitate tailored management of bone and soft tissue sarcomas. Full article

Introduction: Ultrasound elastography is increasingly used across medical imaging, yet its role in thoracic disease remains poorly defined. While both transthoracic ultrasonography (TUS) and endobronchial ultrasound (EBUS) offer real-time assessment of pleural and pulmonary structures, the diagnostic and clinical value of elastography in this context remains uncertain. Materials and Method: A systematic search of MEDLINE, EMBASE, and the Cochrane Library was conducted according to PRISMA guidelines (April 2023; updated January 2025). Original studies evaluating transthoracic or endobronchial elastography for pleural or pulmonary conditions were included. Data extraction and quality assessment were performed independently by three reviewers, with QUADAS-2 used to evaluate risk of bias. Results: Thirty studies met inclusion criteria. Twenty-eight evaluated TUS elastography and two examined EBUS. Shear wave elastography was most frequently applied, particularly for differentiating malignant from benign pleural effusion or subpleural lesions. Surface wave elastography demonstrated consistently higher stiffness values in patients with interstitial lung disease compared with healthy controls, correlating with radiological and functional disease severity. Elastography-guided pleural biopsy improved diagnostic yield compared with conventional ultrasound-guided biopsy. Overall, substantial methodological variation existed among scanning techniques, elastography modalities, reporting methods, and diagnostic thresholds, limiting cross-study comparison. Conclusions: Ultrasound elastography shows promise for evaluating pleural effusion and pulmonary lesions, procedural guidance, and interstitial lung disease possibly improving diagnostic possibilities with bedside evaluation and reducing patient exposure to radiation. However, methodological variation and limited high-quality evidence preclude clinical implementation. Standardized acquisition protocols and multicentre validation studies are necessary to define its diagnostic utility in thoracic imaging. Full article

Temozolomide (TMZ) remains foundational in the management of adult-type diffuse gliomas in general, and glioblastoma specifically. However, its efficacy harbors an evolutionary trade-off. TMZ drives its cytotoxicity through generating O⁶-methylguanine lesions, especially active in MGMT-silenced, mismatch repair (MMR)-proficient tumors. By selecting for acquired MMR-deficient subclones, often via MSH6 inactivation, this process escalates into a hypermutator phenotype, generating thousands of de novo alterations. This is a hallmark of the mutational signature known as SBS11, characterized by C>T transitions, which is associated with TMZ treatment. The hypermutator phenotype drives heterogeneity, therapeutic resistance, spatial diversification, and distant recurrence. Despite harboring a mutational burden comparable to melanoma and lung cancer, TMZ-induced hypermutation does not sensitize gliomas to immune checkpoint blockade. This resistance reflects the profoundly immunosuppressive brain microenvironment, impaired antigen presentation, marked transcriptional plasticity, and perhaps also the frequent use of corticosteroids. Emerging strategies aim to exploit vulnerabilities created by TMZ-mediated genomic instability, including PARP, ATR, WEE1, and AURKA inhibition; alternative alkylators; metabolic rewiring; and G-quadruplex stabilization. Notably, the real-time detection of evolving mutational signatures via CSF-based liquid biopsies may enable adaptive therapy before radiographic progression. By reframing TMZ as a potent evolutionary agent rather than a conventional chemotherapy, this review synthesizes recent mechanistic insights and translational opportunities to guide a next-generation, evolution-informed treatment paradigm for glioma. Full article

Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive malignancy with poor long-term survival despite advances in surgical techniques, systemic therapies, and perioperative management. High rates of systemic recurrence following curative-intent resection suggest that many patients harbor minimal residual disease (MRD), microscopic tumor burden that persists postoperatively and remains undetectable by conventional diagnostic tools. Recent advances in liquid biopsy technologies, particularly circulating tumor DNA (ctDNA) analysis, alongside detailed characterization of the PDAC mutational landscape, offer a promising non-invasive approach for MRD detection. Emerging evidence indicates that MRD status can serve as a sensitive prognostic biomarker, identify patients at high risk of relapse, and guide personalized perioperative therapy, including optimization of adjuvant treatment. This review summarizes current knowledge on the biology and detection of MRD in PDAC, its implications for perioperative risk stratification and treatment decision-making, and discusses future directions for integrating MRD assessment into clinical practice to enable more precise, individualized patient management. Full article

Cardiovascular disease (CVD) remains the leading cause of morbidity and mortality worldwide, with heart failure (HF) representing a major contributor to hospitalizations, healthcare costs, and death. Effective management of HF is hindered by the limitations of current biomarkers and diagnostic tools. Conventional biomarkers, such as natriuretic peptides, primarily reflect downstream hemodynamic stress and often lack specificity, particularly in HF with preserved ejection fraction or multiple comorbidities. While imaging provides valuable structural and functional information, it is resource-intensive, costly, and unsuitable for frequent longitudinal monitoring. As a result, these conventional approaches are inadequate to capture the dynamic and heterogeneous nature of HF pathophysiology. Circulating cell-free nucleic acids (cfNAs), including cell-free DNA (cfDNA) and RNA (cfRNA), have emerged as promising noninvasive liquid biopsy biomarkers capable of providing real-time insight into upstream pathological events, such as cardiomyocyte injury, immune activation, inflammation, and maladaptive remodeling. Importantly, cfNAs also act as active mediators of CVD pathology. When released under stress or injury, cfNAs interact with pattern recognition receptors (PRRs) that trigger sterile inflammation, cardiovascular cell dysfunction, and adverse cardiac remodeling. This review summarizes the origins, mechanistic roles, and clinical significance of cfNAs in HF and related CVD, highlighting their dual roles as diagnostic biomarkers and mechanistic effectors of disease. Finally, we discuss emerging cfNA-targeted therapeutic strategies, challenges, and future opportunities for precision medicine in HF and HF-associated CVD. Full article

Background/Objectives: Conventional next-generation sequencing (NGS) workflows often require more than two weeks to complete, delaying treatment decisions and limiting access to precision oncology in community settings. This report aimed to demonstrate the feasibility of performing rapid, comprehensive cell-free DNA (cfDNA)-based genomic profiling by introducing a fully automated NGS workflow in a community hospital environment. Case Presentation: A postoperative patient with pancreatic ductal adenocarcinoma and liver metastasis underwent cfDNA-based liquid biopsy using plasma collected in PAXgene^® Blood ccfDNA Tubes. Gene analysis was performed using the Oncomine Precision Assay GX5 on the Ion Torrent Genexus™ System (Thermo Fisher Scientific). Three pathogenic hotspot mutations—KRAS G12R, TP53 M246I/M246K, and GNA11—and one copy number gain in PIK3CA were identified, whereas no variants were detected in a healthy volunteer control. The total turnaround time from plasma separation to report generation was approximately 27 h, requiring only 40 min of total hands-on time. Discussion: This rapid, automated workflow enabled comprehensive cfDNA analysis within a clinically practical timeframe, overcoming key limitations of conventional multi-step NGS workflows that typically require external sample shipment and specialized personnel. The results confirm the technical feasibility of conducting high-quality molecular testing in a regional hospital setting. Conclusions: This report demonstrates that fully automated cfDNA-based NGS can achieve clinically meaningful genomic profiling within 27 h in a community hospital. This advancement addresses the time and cost barriers of traditional NGS analysis and represents a significant step toward promoting precision medicine in community healthcare. Full article

Background and Clinical Significance: Isoechoic renal tumors, defined as masses demonstrating echogenicity similar to normal renal parenchyma, represent a significant diagnostic challenge in contemporary ultrasonographic practice. These lesions, occurring in 5–12% of all renal masses, frequently escape detection on conventional ultrasound, leading to delayed diagnosis and potentially adverse oncological outcomes. Isoechoic renal tumors encompass both benign and malignant entities, with clear cell renal cell carcinoma representing 65–70% of malignant cases. Conventional ultrasound shows limited sensitivity (48–67%) for detecting isoechoic masses, while contrast-enhanced ultrasound achieves detection rates of 94–98%. Multiparametric MRI and dual-energy CT provide superior characterization, with accuracy rates of 85–92% for differentiating benign from malignant lesions. Case Presentation: We describe the case of an 80-year-old male in whom a 2.4 cm isoechoic renal mass was incidentally detected during abdominal ultrasound performed for chronic kidney disease monitoring. Contrast-enhanced CT confirmed a solid, hypervascular lesion with wash-out characteristics. Given the patient’s age, comorbidities, and tumor characteristics, multidisciplinary evaluation led to an active surveillance strategy. At 6-month follow-up, the lesion remained stable. Conclusions: Isoechoic renal tumors require multimodal diagnostic approaches and individualized management strategies. Emerging technologies, including artificial intelligence-enhanced ultrasound systems and radiomic-based decision support tools, are undergoing clinical validation and may improve detection and characterization. Investigational approaches such as liquid biopsy and novel PET tracers targeting carbonic anhydrase IX are in early development. Translation of these technologies into clinical practice will require prospective validation, standardization of protocols, and demonstration of cost-effectiveness. Full article

Gastrointestinal (GI) cancers represent a heterogeneous group of malignant neoplasms arising from the digestive tract, including gastric, colorectal, hepatic, pancreatic, and biliary cancers. These tumors represent a major public health challenge due to their aggressive nature and poor prognosis. Although significant progress has been made in diagnostic imaging, endoscopy, and multimodal therapies, early detection remains difficult. Conventional serum biomarkers often lack sufficient sensitivity and specificity for reliable diagnosis, prompting a growing interest in identifying novel, minimally invasive biomarkers. In this context, liquid biopsy is emerging as a revolutionary tool in oncology. Among its components, extracellular vesicles (EVs) have gained increasing attention because they carry a wide range of molecular cargoes that reflect the biological state of their tumor of origin. In particular, EV-associated microRNAs (miRNAs) hold great promise as biomarkers for early cancer detection, real-time monitoring of disease progression, and assessment of therapeutic response. This review discusses the diagnostic and prognostic potential of EVs as novel biomarkers in GI cancers, emphasizing EV-contained miRNAs as a key resource for the development of personalized and precision medicine strategies. Full article

Background: Endobronchial ultrasound-guided transbronchial biopsy (EBUS-TBB) is a valuable technique for diagnosing peripheral pulmonary lesions (PPLs). Although computer-aided diagnostic (CAD) systems have been explored for EBUS interpretation, most rely on manually selected 2D static frames and overlook temporal dynamics that may provide important cues for differentiating benign from malignant lesions. This study aimed to develop an artificial intelligence model that incorporates temporal modeling to analyze EBUS videos and improve lesion classification. Methods: We retrospectively collected EBUS videos from patients undergoing EBUS-TBB between November 2019 and January 2022. A dual-path 3D convolutional network (SlowFast) was employed for spatiotemporal feature extraction, and contrastive learning (SwAV) was integrated to enhance model generalizability on clinical data. Results: A total of 465 patients with corresponding EBUS videos were included. On the validation set, the SlowFast + SwAV_Frame model achieved an AUC of 0.857, accuracy of 82.26%, sensitivity of 93.18%, specificity of 55.56%, and F1-score of 88.17%, outperforming pulmonologists (accuracy 70.97%, sensitivity 77.27%, specificity 55.56%, F1-score 79.07%). On the test set, the model achieved an AUC of 0.823, accuracy of 76.92%, sensitivity of 84.85%, specificity of 63.16%, and F1-score of 82.35%. The proposed model also demonstrated superior performance compared with conventional 2D architectures. Conclusions: This study introduces the first CAD framework for real-time malignancy classification from full-length EBUS videos, which reduces reliance on manual image selection and improves diagnostic efficiency. In addition, given its higher accuracy compared with pulmonologists’ assessments, the framework shows strong potential for clinical applicability. Full article

Background and Clinical Significance: Tumefactive demyelinating lesions (TDLs) are large demyelinating lesions that mimic intracranial tumors, posing a diagnostic challenge in both clinical presentation and conventional imaging. Distinguishing TDLs from central nervous system tumors can be challenging due to their similar imaging appearances. Specific magnetic resonance imaging (MRI) features such as open-ring contrast enhancement, mild mass effect, lack of cortical involvement, and rapid responsiveness to corticosteroids favor a demyelinating etiology of the lesion. This report presents a case of a tumefactive demyelination lesion showing a T2/fluid-attenuated inversion recovery (FLAIR) mismatch sign suggestive of a low-grade astrocytoma, focusing on imaging findings, therapeutic response, and diagnostic considerations. Case Description: A 63-year-old woman presented with headache, progressive speech impairment, and difficulty swallowing. MRI revealed a large lesion in the left frontal lobe with a T2/FLAIR mismatch sign, which initially suggested a low-grade astrocytoma. Additionally, the lesion was hypodense on noncontrast computed tomography (CT), did not show open-ring enhancement, and only had mild mass effect with perifocal edema. Given these conflicting imaging findings, a biopsy was considered; however, the patient declined the procedure and agreed to a follow-up. Corticosteroid therapy was initiated to reduce swelling, resulting in a significant reduction in the lesion within two weeks. A follow-up MRI confirmed near-complete regression of the lesion after two months. Conclusions: While a T2/FLAIR mismatch sign correlates with isocitrate dehydrogenase (IDH)-mutant 1p/19q non-codeleted astrocytoma, the dynamic radiological and clinical response to corticosteroids was more indicative of demyelination. This case highlights the importance of considering TDLs in the differential diagnosis of tumor-like brain lesions to avoid unnecessary invasive interventions like biopsy or surgical removal. Full article

This review explores the evolving role of endoscopic ultrasound (EUS) in the diagnosis and management of liver diseases, with a particular focus on chronic liver disease, focal hepatic lesions, portal hypertension, and post-transplant anatomy. A comprehensive literature review of PubMed, MEDLINE, and Embase studies up to August 2025 was conducted to identify the latest evidence on EUS-guided procedures, comparing them with traditional techniques. In diagnostics, EUS-guided liver biopsy provides real-time visualisation and precise tissue sampling, achieving longer specimen lengths and better patient outcomes compared to traditional percutaneous and transjugular approaches. For portal hypertension assessment, EUS-guided portal pressure gradient measurement is a promising alternative to conventional methods, with validation studies demonstrating strong correlation with hepatic venous pressure gradient measurements. In therapeutic applications, EUS facilitates precise interventions including gastric variceal treatment through combined coil and glue injection, management of visceral arterial pseudoaneurysms, selective portal vein embolisation, and targeted tumour ablation. While some applications remain in developmental stages, studies support the safety and efficacy of EUS in improving diagnostic accuracy and expanding therapeutic options for liver diseases. Ongoing technological advances in needle design, imaging capabilities, and artificial intelligence integration are expected to further enhance the utility of EUS in hepatology. Full article

Women with a personal history of breast cancer (PHBC) are at increased risk of local recurrence or new primary tumors, which are often difficult to assess on conventional imaging because of postoperative changes. This prospective study aimed to evaluate the diagnostic performance of contrast-enhanced mammography (CEM) in women with PHBC presenting with suspicious findings on follow-up mammography or ultrasound. Sixty-two patients underwent CEM between December 2023 and June 2025. Lesions showing enhancement were biopsied, while non-enhancing ones were followed for stability. Histopathology served as the reference standard. Diagnostic performance was assessed using standard statistical methods, including sensitivity, specificity, Fisher’s exact test, and ROC analysis. Among 62 lesions, 34 were enhanced on CEM; 30 of these (88.2%) were malignant, whereas 25 of 28 non-enhancing lesions (89.3%) were benign (p < 0.001). CEM demonstrated a sensitivity of 90.9%, specificity of 86.2%, and diagnostic accuracy of 88.7%. Interobserver agreement was substantial (κ = 0.76, p < 0.001). Enhancement on recombined CEM images was strongly associated with malignancy. These findings confirm that CEM provides excellent diagnostic performance in the surveillance of women with PHBC, effectively distinguishing benign from malignant postoperative changes. CEM may serve as a practical and accessible alternative to magnetic resonance imaging, particularly in patients with contraindications or where it is unavailable. Full article