1.Transformation of Pleomorphic Xanthoastrocytoma with Germline ATM Mutation into a SMARCB1-Deficient Rhabdoid Tumor: A Case Report
Hyeonseung LEE ; Hyun Jin PARK ; Bo Kyung KIM ; Kyung Taek HONG ; Hyoung Jin KANG ; Sung-Hye PARK ; Ji Hoon PHI ; June-Young KOH ; Jung Yoon CHOI
Clinical Pediatric Hematology-Oncology 2026;33(1):34-38
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.
2.A Protocol of Korean JOint RegistrY for ALZheimer’s Treatment and Diagnostics (JOY-ALZ)
Geon Ha KIM ; Jung-Min PYUN ; Danbee KANG ; Sung Hoon KANG ; Seong-Ho KOH ; Jae Seung KIM ; So Young MOON ; Won-Jin MOON ; Young Ho PARK ; YongSoo SHIM ; Dong Won YANG ; Young Chul YOUN ; Young Hee JUNG ; Hanna CHO ; Hojin CHOI ; Jae-Sung LIM ; Kee Hyung PARK ; Seong Hye CHOI
Dementia and Neurocognitive Disorders 2026;25(1):25-41
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.
3.Clinical Characteristics and Outcomes of Life-sustaining Treatment Withdrawal in a Korean Neurocritical Care Unit: A Single-center Retrospective Study
Junho SEONG ; Hye-in CHUNG ; Jin-Heon JEONG ; Jung Hwa SEO ; Dae-Hyun KIM ; Yong-Hwan CHO ; Jae Hyung CHOI ; Jae-Kwan CHA
Journal of the Korean Neurological Association 2026;44(1):47-53
Background:
The Act on Decisions on Life-Sustaining Treatment (LST) has been implemented in Korea since 2018, yet data on its application in neurocritical care units remain scarce. This study aimed to evaluate the clinical characteristics and outcomes of LST withdrawal or withholding in the neurocritical care unit.
Methods:
This study was a retrospective analysis conducted at a tertiary university hospital in Busan, South Korea. Among patients admitted to the neurocritical care unit between February 2018 and August 2023, those with documented decisions for LST withdrawal or withholding were enrolled. Demographic and clinical characteristics, underlying and combined conditions, reasons for LST decisions, measures taken, and time from LST withdrawal to death were extracted from medical records.
Results:
A total of 69 patients were included, with a median age of 67 years, and 38 (55%) were male. Cerebrovascular disease (62%) and traumatic brain injury (22%) were the most common underlying diagnoses. The primary reason for LST decisions was irreversible neurological damage (71%), followed by systemic complications (19%). Mechanical ventilation cessation (91%) and extubation (86%) were most frequently used measures for LST withdrawal. The median time from LST withdrawal to death was 22 minutes.
Conclusions
Our study demonstrates that LST decisions in the neurocritical care unit predominantly occur among patients with cerebrovascular disease or traumatic brain injury, mostly triggered by neurological deterioration. Most patients died shortly after withdrawal. These findings provide important insight into current LST withdrawal practices in neurocritical care and may assist clinical and ethical decision making in similar settings.
4.The Korean Rectal Cancer Multidisciplinary Committee Clinical Practice Guidelines for Rectal Cancer version 2.0
Hyo Seon RYU ; Hyun Jung KIM ; Dong Hyun KANG ; Yoo-Kang KWAK ; Han Deok KWAK ; Yoon-Hye KWON ; Dalyon KIM ; Baek-Hui KIM ; Jae Hyun KIM ; Ji Hun KIM ; Jin Won KIM ; Tae Hyung KIM ; Hae Young KIM ; Soo Min NAM ; Gyoung Tae NOH ; Jun Woo BONG ; Nak Song SUNG ; Seon Hui SHIN ; Kil-Yong LEE ; Sung Chul LEE ; Sea-Won LEE ; Jung Won LEE ; Jong Min LEE ; Myung Hoon IHN ; Joo Han LIM ; Woong Bae JI ; Dae Hee PYO ; Young Ki HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2026;42(1):4-33
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.
5.Clinical Features and Treatment Response in Chronic Recurrent Erythema Multiforme: Difference Based on the Etiology Related to Herpes Simplex Virus
Kyung Bae CHUNG ; Jung Won PARK ; Joo Hee LEE ; Eun-Hye KIM ; Do-Young KIM
Annals of Dermatology 2026;38(1):11-18
Background:
Erythema multiforme (EM) is typically a self-limited, acute hypersensitivity reaction. However, a subset of patients experiences chronic, recurrent episodes, for which clinical features and treatment strategies differ depending on the underlying etiology, especially in herpes simplex virus (HSV)-associated cases.
Objective:
To investigate the clinical and phenotypic features of chronic recurrent EM and assess treatment responses, with a focus on differences based on HSV association.
Methods:
This retrospective study included pathology-confirmed cases of suspected EM from 2010 to 2023. Forty patients with chronic EM (≥3 recurrences or persistent disease for ≥12 months) were included. Clinical, histopathologic, and serologic data were analysed.Patients were stratified into herpes simplex virus-associated erythema multiforme (HAEM) and non-HAEM groups. Clustering analysis was performed to identify clinical phenotypes.Treatment responses to antivirals and immunomodulators were evaluated.
Results:
Of the 40 patients, 24 (60%) were classified as HAEM. HAEM patients showed more mucosal involvement, smaller targetoid lesions, and acral predominance, while nonHAEM patients had larger, coalescing lesions with more trunk involvement. Cluster analysis supported HSV as the major discriminating factor. Antiviral agents were effective in 87.5% of HAEM cases but ineffective in 76.9% of non-HAEM patients. Immunosuppressants such as cyclosporine and mycophenolate mofetil showed variable responses. Baricitinib induced complete remission in all 3 refractory cases.
Conclusion
HSV association defines a distinct clinical subtype of chronic recurrent EM, with differences in lesion morphology, distribution, and treatment response. Recognizing these patterns may guide targeted therapeutic strategies, including the potential use of Janus kinase inhibitors in refractory cases.
6.Epidemiology of Gastric Cancer in Korea (1999–2022): Incidence, Survival, and 5-Year Conditional Relative Survival
Ki Bum PARK ; Mee Joo KANG ; Johyun HA ; Eun Hye PARK ; E Hwa YUN ; Hye-Jin KIM ; Kyu-Won JUNG ; Han Hong LEE
Journal of Gastric Cancer 2026;26(1):4-15
Purpose:
This study evaluated long-term trends in gastric cancer epidemiology and survival with a focus on conditional relative survival (CRS).
Materials and Methods:
Using the Korea Central Cancer Registry, we analyzed 665,184 patients who were newly diagnosed with gastric cancer between 1999 and 2022.The study period was divided into four intervals: Period I (1999–2005), Period II (2006–2011), Period III (2012–2017), and Period IV (2018–2022). Temporal trends in the incidence and mortality were assessed using crude and age-standardized rates. Relative survival was estimated using the Ederer II method, and the 5-year CRS was calculated according to the survival duration after diagnosis.
Results:
The incidence of gastric cancer increased until 2011 and subsequently declined, with a marked decrease observed in 2020. Individuals aged ≥70 years consistently had the highest incidence rates. Mortality rates showed a sustained decline throughout the study period. The overall 5-year relative survival improved from 69.8% in Period II to 78.4% in Period IV. The 5-year CRS increased from 86.1% at 1 year after diagnosis to 96.3% at 5 years.Patients with localized stage maintained a 5-year CRS above 95% at 1 year after diagnosis, whereas those with regional and distant stages showed 5-year CRS that consistently remained below 95%.
Conclusions
The incidence and mortality rates of gastric cancer in Korea have declined over the past two decades, accompanied by improved survival outcomes. The CRS analysis suggests that long-term follow-up is warranted, with the optimal duration varying according to patient characteristics.
7.2025 Focused Update of the Seoul Consensus on Gastroesophageal Reflux Disease: Evidence-based Recommendations on Acid Suppressive Therapy
Cheal Wung HUH ; Jin Won CHANG ; Nak-Hoon SON ; Da Hyun JUNG ; Hye-Kyung JUNG ; Seung Joo KANG ; Seung Young KIM ; Miyoung CHOI ; Da Mi JEONG ; Hyun Jin KIM ; Moo In PARK ; In-Kyung SUNG ; Young Hoon YOUN ; Kwang Jae LEE ;
Journal of Neurogastroenterology and Motility 2026;32(1):7-18
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.
8.Revision of Nutrition Quotient for Korean preschool children: NQ-P 2021
Hyo-Jeong HWANG ; Ki Nam KIM ; Young-Suk LIM ; Ji-Yun HWANG ; Hye-Young KIM ; Jung-Sug LEE
Journal of Nutrition and Health 2026;59(1):45-62
Purpose:
This study was conducted to revise the Nutrition Quotient for Preschool children (NQ-P), a tool for evaluating the overall dietary quality and eating behavior among Korean preschool-aged children.
Methods:
At the first stage, 20 items for assessing dietary behavior were selected based on the previous NQ-P checklist, incorporating the results of the Seventh Korea National Health and Nutrition Examination Survey, national nutrition policies, dietary guidelines, and recent literature reviews. A pilot study was conducted with 100 preschool children residing in Seoul and Gyeonggi Province, using an 18-item checklist. After exploratory factor analysis and expert consultation, 15 items were finalized for use in nationwide survey checklists. The nationwide survey was conducted with a stratified sample of 800 preschool children across six metropolitan cities. Confirmatory factor analysis was used to revise the NQ-P 2021 and make it suitable for the structural equation model.
Results:
The NQ-P 2021 was developed using 15 checklist items organized into three factors:balance (7 items), moderation (4 items), and practice (4 items). The standardized path coefficients were used as item weights to determine the nutrition quotients. The weights of balance, moderation, and practice were 0.40, 0.15, and 0.45, respectively. In the nationwide survey, the mean NQ-P 2021 score was 59.67. The average scores for balance, moderation, and practice were 51.00, 62.45, and 66.46, respectively.
Conclusion
The revised NQ-P 2021 provides a validated and practical tool for assessing the dietary quality and eating behaviors of preschool children in Korea.
9.National Trends in Healthcare Quality in Korea: A Multidimensional Assessment Using OECD Health Care Quality Indicators (2008–2023)
Hyejin LEE ; Soo-Hee HWANG ; Sang-A CHO ; Hyemin JUNG ; Youngs CHANG ; Jieun YUN ; Sanghyun CHO ; Un-Na KIM ; Hye Yeon KOO ; Eun Byul CHO ; Do Hee KIM ; Jin Yong LEE
Journal of Preventive Medicine and Public Health 2026;59(3):225-238
Objectives:
Assessing healthcare quality at the national level is essential for evaluating health system performance and identifying areas requiring improvement. This study examined long-term trends in healthcare quality in Korea from 2008 to 2023 using internationally comparable indicators.
Methods:
We conducted a trend analysis of healthcare quality in Korea using the Organization for Economic Cooperation and Development (OECD) Health Care Quality and Outcomes framework and quality indicators. Indicators across multiple domains, including acute care, primary care, prescribing in primary care, mental healthcare, and patient experiences, were analyzed and compared with OECD averages.
Results:
Healthcare quality in Korea improved across several domains. Thirty-day mortality for acute myocardial infarction decreased from 14.2% in 2008 to 10.2% in 2023, while mortality for ischemic stroke declined from 8.7% to 5.5%. Avoidable hospitalizations decreased substantially, with hospitalizations for chronic obstructive pulmonary disease declining by 59.7%. The proportion of patients with diabetes receiving cholesterol-lowering treatment increased from 44.1% to 82.5%. However, the proportion of broad-spectrum antibiotic prescriptions remained substantially higher than the OECD average (40.3 vs. 15.5%). In mental healthcare, excess mortality ratios increased from 4.3 in 2010 to 4.9 in 2023 for schizophrenia and from 3.5 to 4.3 for bipolar disorder, while post-discharge suicide rates showed little improvement. Patient experience indicators related to patient-physician communication improved and approached OECD averages.
Conclusions
Healthcare quality in Korea improved substantially between 2008 and 2023, particularly in acute care outcomes and chronic disease management. However, persistent challenges remain in areas such as antibiotic use, polypharmacy, and mental healthcare. These findings provide internationally comparable evidence to inform future health policy and healthcare quality improvement efforts.
10.Deep Learning–Based Bone Age Assessment for Predicting Final Adult Height in Girls With Central Precocious Puberty
Jeong Min SONG ; Pyeong Hwa KIM ; Young Ah CHO ; Ah Young JUNG ; Jin Seong LEE ; Ja Hye KIM ; Hee Mang YOON
Korean Journal of Radiology 2026;27(6):568-577
Objective:
This study aimed to evaluate the accuracy of predicting final adult height (FAH) in Korean girls with central precocious puberty (CPP) using artificial intelligence (AI)-derived bone age assessments integrated into the Bayley–Pinneau (BP) or Korean National Growth Chart (KGC) prediction models.
Materials and Methods:
This single-center, retrospective study included 122 Korean girls with CPP who received gonadotropinreleasing hormone agonist (GnRHa) treatment for at least two years between January 2000 and November 2022. We assessed bone age and predicted adult height at the initiation and completion of GnRHa treatment. We used three bone age assessment methods: human expert assessment based on the Greulich-Pyle (GP) atlas (Human-GP), AI-derived GP (AI-GP), and AI-weighted GP scoring (AI-GPw). We calculated predicted adult heights (PAHs) using both the BP and KGC models, generating 12 PAH estimates per patient (2 time points x 3 bone-age methods x 2 height-prediction models). We assessed prediction accuracy and agreement with FAH using linear regression analysis and Bland–Altman plots and performed multivariable analysis to identify significant predictors of FAH.
Results:
Human-GP, AI-GP, and AI-GPw demonstrated comparable overall performance in predicting FAH (R 2 : 0.470–0.646 and 0.691–0.822 for treatment initiation and completion, respectively). AI-GPw combined with BP yielded slightly better point estimates but showed no statistically significant differences. At both time points, the BP model demonstrated consistently narrower 95% limits of agreement (LoA) than the KGC model. Multivariable analysis identified AI-GPw-BP and height percentile score as significant predictors of FAH at both time points; mid-parental height was significant only at treatment initiation.
Conclusion
Human-GP, AI-GP, and AI-GPw demonstrated comparable accuracy in predicting FAH. The BP model demonstrated consistently narrower 95% LoA than did the KGC model. AI-GPw-BP was an independent predictor of FAH. These findings support the clinical utility of AI-derived bone age assessments for individualized FAH prediction in patients with CPP.

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