Secondary rhabdoid tumors (RTs) with atypical teratoid/rhabdoid tumor-like features rarely arise from, or coexist with, pleomorphic xanthoastrocytomas (PXAs), and their clinicopathological and molecular characteristics remain poorly understood. We report a 17-year-old girl with a temporal lobe mass that, upon gross total resection, pathologically contained both RT and PXA components. Immunohistochemistry revealed loss of INI1 expression restricted to the RT component, while the PXA area retained INI1. Next-generation sequencing identified a shared BRAF::TRIM24 fusion and homozygous deletion of CDKN2A/2B in both components, indicating a shared clonal origin. Additionally, a germline ATM frameshift mutation (c.5288_5289insGA) was identified in both tumor components, making the first such report in central nervous system tumors. SMARCB1 loss was confined to the RT component, further supporting the hypotheses of clonal evolution and secondary transformation. Despite gross total resection, craniospinal irradiation, and chemotherapy, the patient developed rapid leptomeningeal dissemination and died 5 months after surgery. This case provides clinicopathological and molecular evidence for clonal evolution and secondary transformation of PXA into an RT. The presence of germline ATM mutation may have therapeutic and biological relevance. Further studies are required to clarify the pathogenesis and optimal management of these rare and aggressive tumors.

Background: and Purpose: To assess the long-term effectiveness, safety, and economic viability of recently approved Alzheimer’s disease (AD) therapies, as well as to evaluate the real-world application of novel diagnostics among AD patients with diverse comorbidities, comprehensive real-world data (RWD) analysis is essential. The Korean JOint RegistrY for ALZheimer’s Treatment and Diagnostics (JOY-ALZ) endeavors to create a registry of RWD derived from clinical practice on new diagnostic methods and therapeutic agents for AD introduced in Korea since 2021. Methods: Participants must fulfill all the following: 1) be at least 19 years old; 2) be actively receiving, scheduled to initiate, or undergoing evaluation for any AD disease-modifying treatment; 3) have completed amyloid positron emission tomography or cerebrospinal fluid AD immunoassay (a positive result is not essential for participation); 4) have a clinical classification of cognitively unimpaired, mild cognitive impairment, or probable AD dementia. Data generated during routine care is segmented into a minimum dataset, extended dataset, and research-only dataset requiring extra consent. Assessments encompass clinical, cognitive, functional, neurobehavioral, neuroimaging, and biomarker evaluations, in addition to systematic monitoring of new AD treatments and their safety.Data are collected and monitored at baseline, at semiannual intervals during the initial 2 years, and then annually up to 2034. To date, 46 medical centers will participate in JOY-ALZ. Conclusions JOY-ALZ is expected to promote understanding of the long-term clinical outcomes, safety, and cost-effectiveness of recently introduced diagnostics and treatments for AD, thereby supporting the progress of precision medicine in AD care and diagnosis.

Background/Aims: Recent advances in computer-aided diagnosis (CADx) systems have demonstrated expert-level accuracy in the optical diagnosis of colorectal polyps. High-confidence (HC) diagnoses have been defined as those made within 3 seconds without hesitation, and these systems have been shown to improve diagnostic accuracy. We aimed to evaluate the performance of endoscopists with varying levels of experience in diagnosing colorectal polyps with the assistance of a new CADx system applying the 3-second rule and without artificial intelligence assistance. Methods: In this multicenter ex vivo study, 35 endoscopists assessed 100 polyps (51 adenomas, 39 hyperplastic polyps, 10 sessile serrated lesions) using narrow-band imaging video clips on an online platform. Assessments consisted of individual endoscopist diagnosis and CADx-assisted diagnosis. HC assignments followed the 3-second rule in both phases. Performance metrics included HC accuracy, HC rate, and adherence to the Preservation and Incorporation of Valuable Endoscopic Innovations (PIVI) and Simple Optical Diagnosis Accuracy (SODA) thresholds. Results: HC diagnostic accuracy improved from 78.3% (95% confidence interval [CI], 76.6% to 80.0%) to 89.8% (95% CI, 88.6% to 90.9%) with CADx assistance (p<0.001). The proportion of HC predictions increased from 64.2% to 75.4% (p<0.001). Novice endoscopists showed marked improvement with CADx (74.1% vs 88.8%; p<0.001). CADx-assisted diagnoses nearly met SODA and PIVI thresholds under the 3-second rule. Additional analysis demonstrated that CADx assistance significantly improved interobserver agreement and ground truth, particularly for novices (κ=0.37 to κ=0.65; p<0.001). Conclusions Integrating CADx with the 3-second rule significantly enhances the performance of endoscopists in the optical diagnosis of colorectal polyps, with the greatest benefit observed among novice endoscopists.

Background/Aims: Left ventricular ejection fraction (LVEF) is a key echocardiographic parameter for assessing LV systolic function, guiding the management of many cardiovascular diseases, including heart failure (HF). While traditional electrocardiography (ECG) has been widely used in clinical practice, it has limitations in predicting LVEF. This study investigated the impact of integrating ECG data with metadata, such as age, N-terminal pro B-type natriuretic peptide (NT-proBNP), and sodium levels, to enhance the accuracy of LVEF prediction, especially in HF with reduced ejection fraction (HFrEF, LVEF ≤ 40%). Methods: This retrospective study analyzed ECG and metadata from two tertiary teaching hospitals in Korea. A deep neural network (EfficientNet B3) was trained to predict LVEF, incorporating clinical metadata alongside ECG inputs. Model performance was assessed using the area under the curve (AUC) and the coefficient of determination (R2). Results: The artificial intelligence (AI) model achieved an AUC of 0.95 when ECG data were combined with age, NT-proBNP, and sodium levels, outperforming models relying on ECG alone (AUC = 0.90). The integration of metadata significantly improved the prediction accuracy, particularly for HFrEF cases. The specificity of the model remained high (96.9%), but sensitivity was relatively low (54.8%), indicating its potential as a screening tool for HFrEF. Conclusions The combination of ECG and metadata results using AI enhances the predictive accuracy of HFrEF detection. This approach offers a scalable and noninvasive method for HF screening and risk stratification, particularly in resource-limited settings. Further validation in diverse populations is needed to confirm its clinical utility.

Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.

Purpose: Endoscopic submucosal dissection (ESD) has become a standard minimally invasive treatment for selected patients with early gastric cancer (EGC). This study presents the first nationwide survey of patients with EGC treated with ESD in 2023, conducted by the Korean College of Helicobacter and Upper Gastrointestinal Research. Materials and Methods: Data were retrospectively collected from participating referral centers across Korea using a standardized case report form covering patient characteristics, tumor features, procedural details, histopathological findings, and clinical outcomes.Descriptive and comparative analyses were conducted to summarize nationwide ESD practice patterns and outcomes. Results: Data from 5,460 ESD cases from 5,250 patients across 27 institutions were analyzed. The mean age was 67.4 years, with 74.1% males. Multiple synchronous lesions were identified in 3.7%. Most lesions were located in the lower third of the stomach (64.0%), and differentiated-type adenocarcinomas accounted for 87.8%. The en bloc and complete resection rates were 99.2% and 91.4%, respectively. Curative resection was achieved in 80.5%, whereas local non-curative resection (L-NCR) and surgical non-curative resection (S-NCR) were identified in 2.8% and 16.7%, respectively. Additional surgery was performed more frequently in patients with S-NCR than in those with L-NCR (59.3% vs. 24.7%). The bleeding and perforation rates were 3.6% and 0.9%, respectively, and were mostly managed conservatively or endoscopically. The median length of hospitalization was 4.0 days. Conclusions This first nationwide survey provides a comprehensive overview of the current practice of EGC treatment using ESD in Korea, demonstrating high technical success and safety, and establishing a baseline dataset for future longitudinal research.

Background/Aims: Endoscopic anti-reflux therapy is a therapeutic option for gastroesophageal reflux disease (GERD), providing durable effects. However, clinical data from Korea remain limited. This study evaluates the clinical outcomes of endoscopic radiofrequency Stretta therapy in Korean patients. Methods: A retrospective analysis was conducted on 71 patients with GERD who underwent Stretta therapy at 2 tertiary hospitals in Korea between November 2015 and July 2021. Clinical outcomes, including patient satisfaction, medication cessation or reduction, and complications, were evaluated. Pre- and post-procedural esophageal manometry and 24-hour pH monitoring test results were also analyzed. Results: Patient satisfaction rates at 1, 6, and 12 months post-procedure were 54.7% (35/64), 70.0% (28/40), and 75.0% (21/28), respectively. Medication cessation or reduction was achieved in 31.2% (20/64) at 1 month, 70.0% (28/40) at 6 months, and 67.9% (19/28) at 12 months. Esophageal manometry (n = 21) showed no significant changes in mean lower esophageal sphincter pressure (18.7 mmHg [2.5-52.9] vs 17.4 mmHg [0.0-43.0], P = 0.702) or mean integrated relaxation pressure (8.2 mmHg [0.0-28.0] vs 10.1 mmHg [0.0-31.0], P = 0.840). The 24-hour pH monitoring (n = 18) demonstrated a nonsignificant decrease in acid exposure time (pH < 4) from 2.3% (0.0-8.4) to 1.6% (0.0-7.3) (P = 0.182). Similarly, the DeMeester score decreased non-significantly from 8.4 (0.8-27.7) to 6.6 (0.8-21.8) (P = 0.352). No procedure-related complications occurred. Conclusion Endoscopic radiofrequency Stretta therapy appears to be a safe treatment option for GERD and may provide favorable patient satisfaction and medication reduction.

Gastroesophageal reflux disease (GERD) is a chronic and relapsing gastrointestinal disorder characterized by the reflux of gastric contents into the esophagus, leading to troublesome symptoms and/or complications. Since the publication of the 2020 Seoul Consensus on GERD, significant new evidence has emerged, particularly regarding acid-suppressive therapies and diagnostic approaches. This 2025 focused update aims to refine GERD management strategies by incorporating the latest evidence on acid suppressive therapies and regional considerations in Asian populations. This study builds on the 2020 Seoul Consensus by integrating systematic reviews, meta-analyses, and expert consensuses to offer updated recommendations for the definition and medical treatment of GERD. These guidelines incorporate recent advances in acid-suppressive therapies, particularly potassium-competitive acid blockers, and adopt updated diagnostic frameworks in accordance with the Lyon Consensus 2.0. Key clinical questions were identified and structured using the following format: Population, Intervention, Comparator, Outcome. The resulting recommendations address the initial treatment, long-term maintenance strategies, and role of personalized therapy based on disease severity, such as the grade of reflux esophagitis. Six key statements are presented: updated definition and classification of GERD (Statement 1); initial and long-term treatment strategies tailored to GERD phenotypes, such as non-erosive reflux disease, mild erosive esophagitis, and severe erosive esophagitis (Statements 2-5); and dose optimization strategies for long-term safety (Statement 6). These guidelines aim to support gastroenterologists and general healthcare providers in making individualized evidence-based decisions for GERD management.

Objective: To evaluate the impact of adding CT to ultrasound (US) for nodal assessment in patients with papillary thyroid microcarcinoma (PTMC), particularly in those with US-node-negative disease. Materials and Methods: This single-center retrospective study included consecutive patients with PTMC (≤1 cm on US) who underwent both US and CT for PTMC staging between August 2016 and January 2020, and subsequently underwent surgery including neck dissection. The number of patients with clinical N1 and pathological N1 disease was assessed. The diagnostic performance of US, CT, and combined US + CT (positive if either was positive) for macroscopic lymph node metastasis (LNM) (i.e., metastatic tumor foci >2 mm) was evaluated. Cases with discordant nodal staging between US and CT were identified.The diagnostic utility of CT was also assessed in a subgroup of patients with node-negative findings on US. Results: Among 982 patients (mean age ± standard deviation, 47.3 ± 11.5 years; 774 female), pathological analysis confirmed cervical LNM in 377 patients, including macroscopic, microscopic, and size-unknown LNM in 187, 175, and 15 patients, respectively. The addition of CT to US improved sensitivity for detecting macroscopic LNM compared to US alone (68.4% [128/187] vs. 26.7% [50/187]; P < 0.001), while maintaining high specificity despite a significant decrease (90.9% [709/780] vs. 97.2% [758/780]; P < 0.001). Discordant nodal staging between US and CT regarding macroscopic LNM was observed in 149 cases (15.2% [149/982]), with 131 patients (87.9% [131/149]) being upstaged by CT. In patients with node-negative US findings, CT detected US-undetected macroscopic LNM in 78 patients (8.7% [78/895]) and exhibited a sensitivity of 56.9% (78/137) and specificity of 93.5% (709/758) for macroscopic LNM. Conclusion The integration of CT with US improved sensitivity for detecting macroscopic LNM in patients with PTMC, identifying those who would otherwise be inappropriately considered candidates for active surveillance based solely on US findings. This may assist in refining patient management.

Objectives: This study investigated medication perceptions, adherence patterns, self-discontinuation experiences, and information sources among psychiatric outpatients to provide evidence for improving adherence strategies. Methods: A cross-sectional survey was conducted with 79 outpatients from a University Hospital, Department of Psychiatry. Self-administered questionnaires assessed diagnostic awareness, medication perceptions, adherence behaviors, discontinuation experiences, side effects, and information sources. Results: Overall, 89.7% knew their psychiatric diagnosis and 88.2% perceived medication as effective. While 73.1% rarely forgot medication, 35.9% had previously self-discontinued treatment. Medication adherence was significantly associated with previous discontinuation experience (p=0.006), whereas diagnostic awareness and efficacy perception were not. Primary discontinuation reasons were symptom improvement (53.6%) and physical discomfort (35.7%). Common side effects included weight gain (n=31), daytime drowsiness (n=26), memory impairment (n=24), and concentration problems (n=22). Patients primarily obtained side effect information from TV/internet (27.8%) rather than healthcare providers (20.3%). Most patients desired additional information about side effects (57.0%) and medication effects (54.4%). Conclusion Daily medication-taking behaviors were more predictive of treatment discontinuation than cognitive factors in this outpatient sample. Discontinuation due to symptom improvement and reliance on non-medical information sources highlights the need for enhanced patient education regarding relapse risks and systematic provision of accurate medication information.