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.
4.A Pilot Study on the Use of Topical Gold and Diamond Suspension Combined With 1,064 nm Picosecond Nd:YAG Laser for the Treatment of Facial Melasma
Ji Yeon HONG ; Hye Sung HAN ; Kui Young PARK
Annals of Dermatology 2026;38(1):27-32
Background:
Carbon suspension with laser irradiation was used for facial melasma, but it produces harmful fumes. Gold and diamond are biocompatible and chemically inert, and expected to act as potent chromophores and microdermabrasion agents, respectively.
Objective:
This study aimed to evaluate the efficacy and safety of microgold and microdiamond suspensions with a 1,064 nm picosecond neodymium-doped yttrium aluminum garnet (Nd:YAG) laser for melasma.
Methods:
Ten Korean patients received 2 laser sessions using gold and diamond suspension at 2-week intervals. Melasma area severity index (MASI), melanin index (MI), erythema index (EI), Physician/Subject global aesthetic improvement scale (PGAIS/SGAIS), and adverse events were assessed at baseline, week 2 and week 4.
Results:
MASI and MI scores significantly improved. EI score showed no significant changes.All patients showed aesthetic improvement by PGAIS and SGAIS. No severe or unexpected adverse events were reported.
Conclusion
The topical microgold and microdiamond suspension combined with a 1,064 nm picosecond Nd:YAG laser appears to be a safe and effective treatment option for facial melasma.
5.2025 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.
6.Baricitinib for Itch-Dominant Atopic Dermatitis: A 52-week Baricitinib Real-World Experience in Korea
Narang HONG ; Ho Eun GWAG ; So Yun PARK ; Seok-Jae HEO ; Hye Jung JUNG ; Mi Youn PARK ; Yu Sung CHOI ; Jiyoung AHN
Annals of Dermatology 2026;38(3):183-190
Background:
Baricitinib is one of the front-runners among targeted agents for the treatment of atopic dermatitis (AD). Although many studies have been conducted on the real-world use of baricitinib, the sample size is often small and data is focused primarily on Caucasians.
Objective:
The objective of this study was to demonstrate the real-world itch-relieving property of baricitinib in adult AD patients in South Korea.
Methods:
Electronic medical records of AD patients treated with baricitinib at the National Medical Center in Korea from May 2021 to April 2023 were analyzed retrospectively.
Results:
Seventy patients completed 16 to 52 weeks of baricitinib treatment, with most patients showing mild-to-moderate baseline lesions and moderate-to-severe baseline itch. At Week 16 of baricitinib treatment, there was a 50% reduction in Itch numerical rating scale from baseline, and 50.7% of patients showed 50% improvement in Eczema Area and Severity Index score.The efficacy of baricitinib was also reflected in the patient reported outcomes, with 55%–58% improvements in Patient-Oriented Eczema Measure, Atopic Dermatitis Control Tool, and Dermatology Life Quality Index scores seen within 2 weeks of treatment. No new safety signals were detected in this study.
Conclusion
Baricitinib treatment for 52 weeks in Korean patients with itch dominant AD confirmed long term effectiveness and safety.
7.Detection Ability of Quality of Life Changes and Responsiveness of the KOQUSS-40 and the EORTC QLQ-C30/STO22 in Patients Who Underwent Gastrectomy: A Prospective Comparative Study
Bang Wool EOM ; Keun Won RYU ; Ji Yeong AN ; Yun-Suhk SUH ; In CHO ; Sung Geun KIM ; Ji-Ho PARK ; Hoon HUR ; Hyung-Ho KIM ; Sang-Hoon AHN ; Sun-Hwi HWANG ; Hong Man YOON ; Ki Bum PARK ; Hyoung-Il KIM ; In-Gyu KWON ; Han-Kwang YANG ; Byoung-Jo SUH ; Sang-Ho JEONG ; Tae-Han KIM ; Oh Kyoung KWON ; Hye-Seong AHN ; Ji Yeon PARK ; Ki Young YOON ; Myoung Won SON ; Seong-Ho KONG ; Young-Gil SON ; Geum Jong SONG ; Jong Hyuk YUN ; Jung-Min BAE ; Do Joong PARK ; Sol LEE ; Jun-Young YANG ; Kyung Won SEO ; You-Jin JANG ; So Hyun KANG ; Joongyub LEE ; Hyuk-Joon LEE ;
Cancer Research and Treatment 2026;58(1):221-231
Purpose:
The aim of this study is to compare the detection ability of quality of life (QoL) changes and responsiveness of the KOrean QUality of life in Stomach cancer patients Study group (KOQUSS)-40 and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ).
Materials and Methods:
A multicenter prospective observational study was conducted to evaluate QoL changes after various gastrectomies between January 2021 and April 2022. Participants were instructed to complete the KOQUSS-40 and EORTC QLQ-C30/STO22 preoperatively and at 1, 3, 6, and 12 months postoperatively. QoL changes over time and QoL responsiveness were assessed for each questionnaire.
Results:
Data from 491 patients who underwent curative gastrectomy for gastric cancer at 22 institutions were analyzed. The summary scores of the KOQUSS-40 and EORTC QLQ-STO22 showed significant differences between the total and proximal gastrectomy groups (p=0.044 and p=0.038, respectively), but no difference was observed for the EORTC QLQ-C30. Dysphagia on the KOQUSS-40 was significantly different between the total and proximal gastrectomy groups (p=0.031); however, dysphagia on the EORTC QLQ-STO22 did not differ. The responsiveness of the KOQUSS-40 was similar to that of the EORTC QLQ in patients who experienced ≥ 10% body weight loss, but approximately 10% less in patients receiving adjuvant chemotherapy than the EORTC QLQ.
Conclusion
KOQUSS-40 has several advantages over EORTC QLQ-C30/STO22 when comparing QoL between the total and proximal gastrectomy groups. The findings provide information for researchers investigating the QoL of patients who have undergone curative gastrectomy for gastric cancer.
8.Addressing Low Physical Activity in Chronic Obstructive Pulmonary Disease: The Importance of Patients’ Symptom Perception
Sungmin ZO ; Danbee KANG ; Sung A KONG ; Sun Hye SHIN ; Jiseon LEE ; Jong Geol DO ; Hye Yun PARK
Tuberculosis and Respiratory Diseases 2026;89(2):235-244
Background:
Pulmonary rehabilitation (PR) is a key intervention for chronic obstructive pulmonary disease (COPD); however, adherence remains suboptimal, particularly in patients with low physical activity (PA) despite preserved physical capacity (PC). This study aimed to identify factors associated with low PA, with a focus on patient-reported outcomes (PROs).
Methods:
In this prospective study, COPD patients were categorized according to daily moderate-to-vigorous PA measured using Fitbit devices: ≥30 minutes/day (‘Do do’) and <30 minutes/day (‘Don’t do’). Baseline characteristics, pulmonary function, and exercise capacity assessed by 6-minute walk distance (6MWD) were evaluated. PROs included the modified Medical Research Council (mMRC) dyspnea scale, COPD Assessment Test (CAT), and Patient Health Questionnaire-9 (PHQ-9). Logistic regression analysis was performed to identify factors independently associated with low PA.
Results:
Among 96 patients, 44 were classified as ‘Do do’ and 52 as ‘Don’t do.’ The ‘Don’t do’ group showed significantly lower 6MWD (424 m vs. 488 m, p=0.005) and lower forced expiratory volume in 1 second (46.73% vs. 54.48%, p=0.005). They also reported higher dyspnea scores (mMRC 1.77 vs. 1.30, p=0.019). Greater breathlessness measured by CAT was independently associated with low PA (odds ratio, 1.31; 95% confidence interval, 1.06 to 1.62), even after adjustment for 6MWD and pulmonary function. This association persisted in patients with preserved PC.
Conclusion
Low PA in COPD is influenced not only by objective physical limitations but also by subjective symptom burden, particularly dyspnea. Integrating PROs into PR assessment may facilitate identification of barriers and improve adherence to rehabilitation programs.
9.Molecular determinants of outcome to gemcitabine, cisplatin, and nab-paclitaxel in patients with advanced biliary tract cancer
Daeseong KIM ; Nam Suk SIM ; Seonjeong WOO ; Min Hwan KIM ; Choong-kun LEE ; Seung Soo HONG ; Sung Hyun KIM ; Ho Kyoung HWANG ; Chang Moo KANG ; Woo Jung LEE ; Jung Hyun JO ; Taek CHUNG ; Sohyun HWANG ; Beodeul KANG ; Jung Sun KIM ; Chang-Il KWON ; Sangwoo KIM ; Hong Jae CHON ; Chang Gon KIM ; Young Nyun PARK ; Hye Jin CHOI
Clinical and Molecular Hepatology 2026;32(2):721-736
Background/Aims:
Biliary tract cancer (BTC) is a rare malignancy with poor prognosis. We investigated genomic determinants of clinical benefit from gemcitabine, cisplatin, and nab-paclitaxel (GAP) versus gemcitabine and cisplatin (GC) in advanced BTC.
Methods:
Clinical and genomic data using TruSight Oncology 500 were analyzed from patients treated with GAP (N=198) or GC (N=89) as first-line therapy.
Results:
With a median follow-up of 33.0 months, GAP modestly improved progression-free survival (PFS) (hazard ratio [HR] 0.764; 95% confidence interval [CI] 0.591–0.989) without significant overall survival (OS) difference compared to GC. Genomic profiling revealed frequent alterations in TP53 (35.2%), KRAS (16.4%), SMAD4 (10.5%), and TNFRSF14 (10.5%), involving RTK/RAS (44.3%), TP53 (41.8%), and PI3K (20.2%) pathways. Single-gene mutations did not predict treatment benefit. However, pathway-level analysis identified PI3K pathway activation as significantly associated with inferior PFS (HR 2.148; 95% CI 1.478–3.124) and OS (HR 2.096; 95% CI 1.413–3.109) in patients receiving GAP, an effect not observed with GC. Importantly, GAP conferred clinical benefit only in patients without PI3K pathway activation, while no survival advantage was seen in those with such alterations (Pinteraction=0.023 for PFS, Pinteraction=0.003 for OS). Similar results were obtained in the independent validation cohort treated with GAP (N=103) or GC (N=64) for BTC.
Conclusions
Genomic profiling using next-generation sequencing identified PI3K pathway activation as key molecular determinant that differentiates patient outcomes between GAP and GC treatments in advanced BTC.
10.Efficacy of Sonic and Ultrasonic Irrigation Techniques in Calcium Hydroxide Paste Removal:A Micro-Computed Tomography Study
Hye-Won CHUNG ; Kun-Hwa SUNG ; Tae-Young PARK ; Ho-Keel HWANG ; Hyoung-Hoon JO
Journal of Korean Dental Science 2026;19(1):1-9
Purpose:
This study compared the efficacy of different irrigation methods for the removal of Ca(OH)2 paste from the root canal.
Materials and Methods:
The root canals of 75 human mandibular premolars with standardized 15-mm canal lengths were prepared using nickel-titanium rotary files. After drying, the canals were filled with Ca(OH)2 paste. The teeth were divided into five groups: Control group (Group C), conventional irrigation; Group EA, sonic activation (EndoActivator); Groups EQA and EQB, sonic activation (EQ-S with metal tips A and B, respectively); and Group EU, ultrasonic activation (EndoUltra).The Ca(OH)2 paste volume before and after irrigation was measured using micro-computed tomography (CT) images. One specimen from each group was bisected along the long axis, and the canal walls were evaluated at 100× magnification using a scanning electron microscope. Statistical analyses were performed using Kruskal-Wallis and Mann-Whitney U tests.
Results:
Overall, Ca(OH)2 paste removal was higher in Group EQA than in Group C. In the coronal third, removal rate was higher in Group EQA than in Group C. In the middle third, Groups EQB and EU outperformed Group C. Removal from the apical third was higher in Group EQA than in Group C. All groups showed greater removal from the coronal and middle thirds than from the apical third.
Conclusion
Sonic and ultrasonic irrigation methods demonstrated higher efficacy than conventional irrigation method for the removal of Ca(OH)2 paste from the root canal. All groups demonstrated better effectiveness in removal from the coronal and middle thirds than from the apical third.

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