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.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.
3.Metaverse-based objective structured clinical examinations: an exploratory approach to advancing clinical competency assessment
Yeon-Ju HUH ; Joon Sung SHIN ; Narae YOON ; Ju Whi KIM ; Do Hoon KIM ; Chanwoong KIM ; Seoi JEONG ; Yejin YOON ; Soyeon SHIN ; Hyoun-Joong KONG ; Sun Jung MYUNG
Korean Journal of Medical Education 2026;38(2):139-148
Purpose:
This developmental study explored the conceptual feasibility and applicability of a metaverse-based clinical assessment platform as a complementary tool to conventional objective structured clinical examinations in undergraduate medical education.
Methods:
A targeted literature review and expert consensus process were conducted to identify domains of clinical competence in which metaverse technologies could provide added value. Based on these findings, prototype virtual patient simulations were developed within a metaverse environment. Large language models (LLMs) were integrated to support dynamic, interactive history-taking simulations, and pilot modules for physical examination were also created.
Results:
Integration of LLMs into virtual patient scenarios enabled realistic, context-sensitive medical interviews, facilitating interactive dialogue between examinees and simulated patients. In contrast, physical examination modules faced technical limitations, particularly in replicating procedures requiring tactile or haptic feedback, such as palpation and percussion. Nevertheless, the metaverse environment enabled delivery of consistent and reproducible scenarios, supporting objective assessment of communication and diagnostic reasoning skills.
Conclusion
Metaverse-based simulations augmented by LLMs offer a promising approach to scalable and standardized clinical assessment, particularly within cognitive and interpersonal competency domains. Although current technological constraints limit the fidelity of physical examination simulations, rapid advancements in immersive and haptic technologies may help overcome these barriers in the near future. Further research is needed to evaluate the educational efficacy, validity, and feasibility of deploying such platforms in summative, high-stakes assessment contexts.
4.Allogeneic Hematopoietic Stem Cell Transplantation in Pediatric and Young Adult Patients with Chronic Myeloid Leukemia in Tyrosine Kinase Inhibitor Era: A Study of the Korean Blood and Marrow Transplantation Registry
Hee Young JU ; Hyoung Soo CHOI ; Hyeon Jin PARK ; Keon Hee YOO ; Chuhl Joo LYU ; Ho Joon IM ; Min Kyoung KIM ; Yeung-Chul MUN ; Joon Ho MOON ; Sung-Soo YOON ; Eunyoung LEE ; Jae Hoon LEE ; Je-Hwan LEE ; So Young CHONG ; June-Won CHEONG ; Seunghyun WON ;
Cancer Research and Treatment 2026;58(2):632-641
Purpose:
Chronic myeloid leukemia (CML) in children, adolescents, and young adults is rare and differs from older adults. This study evaluated the outcomes of allogeneic hematopoietic stem cell transplantation (HSCT) in young Korean CML patients during the tyrosine kinase inhibitor (TKI) era.
Materials and Methods:
A retrospective analysis of 35 CML patients aged < 40 years who underwent allogeneic HSCT from 2009 to 2019 was conducted using Korean Blood and Marrow Transplantation Registry data. Patients were grouped by age < 20 years at HSCT (group 1, n=15) and 20-40 years at HSCT (group 2, n=20). Survival outcomes including overall survival (OS), relapse-free survival (RFS), and event-free survival (EFS) were analyzed using the Kaplan-Meier method.
Results:
The median time between diagnosis and HSCT was 8.9 months. All the patients achieved engraftment but platelet recovery was significantly slower in group 1 (p=0.034). Acute and chronic graft-versus-host disease occurred in 54.3% and 34.3%, respectively. Five-year OS, RFS, and EFS rates of total patients were 66.8%, 50.8%, and 47.6%, with better OS was observed in group 1 by multivariable analysis (p=0.048). Disease status at HSCT was a significant predictor of OS (p=0.028), RFS (p=0.003), and EFS (p=0.004). Disease progression occurred in 13 out of 35 patients (37.1%); treatment-related mortality accounted for 63.6% of deaths (7 out of 11).
Conclusion
When performed at a younger age, allogeneic HSCT result in superior outcome in CML. Achieving remission before HSCT is critical for improved outcomes, highlighting the importance of pretransplant remission via optimal TKI strategies and minimal residual disease monitoring.
5.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.
6.Risk of cardiovascular disease associated with use of tumor necrosis factor inhibitors in ankylosing spondylitis
Ji-Won KIM ; Jun Sik YOON ; Sojeong PARK ; Hasung KIM ; Bo Young KIM ; Hwajeong LEE ; Sung-Hoon PARK ; Seong-Kyu KIM ; Jung-Yoon CHOE
Journal of Rheumatic Diseases 2026;33(1):46-54
Objective:
To examine the risk of cardiovascular disease (CVD) associated with use of tumor necrosis factor inhibitors (TNFi) in patients with ankylosing spondylitis (AS).
Methods:
This study used data from the Korean National Health Insurance database. Patients aged ≥18 years who were newly diagnosed with AS between 2010 and 2018 and did not suffer prior CVD were included. The primary outcome was a composite endpoint of myocardial infarction (MI) or stroke. The secondary outcomes were specific endpoints of MI, stroke, or congestive heart failure. TNFi use was evaluated as a time-dependent variable. Cox proportional hazard regression was used to examine the association between TNFi use and risk of incident CVD.
Results:
Of 19,775 patients (mean age, 36.1 years; 75% male), 5,978 (30.2%) were exposed to TNFi treatment during the study period. During a follow-up of 4.8 (interquartile range, 2.9~7.2) years, 522 events of MI or stroke occurred. TNFi use was associated with a lower risk of MI or stroke than no TNFi use after adjusting for traditional CV risk factors and medications (adjusted hazard ratio [aHR], 0.72; 95% confidence interval [CI], 0.55~0.94). The lower risk of MI or stroke associated with TNFi use was consistently observed across subgroups. Risk of congestive heart failure did not differ between users and non-users of TNFi (aHR, 0.94; 95% CI, 0.75~1.18).
Conclusion
In a real-world AS cohort, TNFi treatment was associated with a reduced risk of atherosclerotic CVD. However, TNFi use was not associated with risk of congestive heart failure.
7.Cough Assessment in Chronic Respiratory Diseases (COASESS): Findings from a Prospective Multicenter Cross-Sectional Study
Tai Joon AN ; Hyeon-Kyoung KOO ; Chin Kook RHEE ; Yee Hyung KIM ; Sung-Kyoung KIM ; Kyung Hoon MIN ; Deog Kyeom KIM ; Jong-Wook SHIN ; Hyoung Kyu YOON ; Woo-Jung SONG ; Jin Woo KIM ; Ji-Yong MOON ;
Tuberculosis and Respiratory Diseases 2026;89(2):275-286
Background:
Cough is a prominent symptom of chronic respiratory diseases, including asthma, idiopathic pulmonary fibrosis (IPF), chronic obstructive pulmonary disease (COPD), and bronchiectasis (BE). Some patients develop chronic cough (CC), defined as lasting more than 8 weeks, yet its characteristics remain poorly understood. This study aimed to characterize CC across various chronic respiratory diseases using validated cough assessment tools.
Methods:
The Cough Assessment in Chronic Respiratory Diseases (COASESS) study, a multicenter, prospective cross-sectional study, was conducted at 10 university hospitals. CC was evaluated in terms of intensity (numeric rating scale [NRS]), frequency (cough symptom score [CSS]), and quality of life (using the cough assessment test [COAT] and Leicester cough questionnaire [LCQ]). Cough hypersensitivity was assessed with the cough hypersensitivity questionnaire (CHQ). Data on age, sex, and smoking status were also collected.
Results:
Among the 303 enrolled patients, 266 with chronic respiratory diseases were included in the analysis. Patients with asthma were younger, predominantly female, and non-smokers, whereas those with COPD and IPF were older males who had previously smoked (p<0.001). Scores for COAT, LCQ, NRS, and CSS showed significant differences across the diseases, with asthma and IPF patients experiencing a greater symptom burden and lower quality of life compared to those with COPD or BE (p<0.001). Although CHQ total scores were similar across groups, asthma patients more frequently reported triggers such as talking and post-nasal drip.
Conclusion
This study revealed distinct characteristics of CC across different chronic respiratory diseases. Asthma and IPF were associated with a higher symptom burden, and cough hypersensitivity varied depending on the underlying condition. These findings highlight the necessity for disease-specific assessments and management strategies for CC.
8.Characteristics and outcomes of portal vein thrombosis in patients with inflammatory bowel disease in Korea
Ki Jin KIM ; Su-Bin SONG ; Jung-Bin PARK ; June Hwa BAE ; Ji Eun BAEK ; Ga Hee KIM ; Min-Jun KIM ; Seung Wook HONG ; Sung Wook HWANG ; Dong-Hoon YANG ; Byong Duk YE ; Jeong-Sik BYEON ; Seung-Jae MYUNG ; Suk-Kyun YANG ; Chang Sik YU ; Yong-Sik YOON ; Jong-Lyul LEE ; Min Hyun KIM ; Ho-Su LEE ; Sang Hyoung PARK
The Korean Journal of Internal Medicine 2025;40(2):243-250
Background/Aims:
Portal vein thrombosis (PVT) frequently occurs in patients with inflammatory bowel disease (IBD), particularly when influenced by factors such as abdominal infections, IBD flare-ups, or surgical procedures. The implications of PVT range from immediate issues such as intestinal ischemia to long-term concerns including portal hypertension and its complications. However, there is a notable gap in comprehensive studies on PVT in IBD, especially with the increasing incidence of IBD in Asia. This research aimed to evaluate the clinical features and outcomes of PVT in patients with IBD at a leading hospital in South Korea.
Methods:
This retrospective analysis reviewed adult patients diagnosed with both IBD and PVT from 1989 to 2021 at a renowned South Korean medical center. The study focused on patient characteristics, specifics of PVT, administered treatments, and outcomes, all confirmed through enhanced CT scans.
Results:
A total of 78 patients met the study’s criteria. Notably, only 20.5% (16/78) were treated with oral anticoagulants; however, a vast majority (96.2%; 75/78) achieved complete radiographic resolution (CRR). When comparing patients receiving anticoagulants to those who did not, a significant preference for anticoagulant use was observed in cases where the main portal vein was affected, as opposed to just the left or right veins (p = 0.006). However, multivariable analysis indicated that neither anticoagulant use nor previous surgeries significantly impacted CRR.
Conclusions
Patients with IBD and PVT generally had favorable outcomes, regardless of anticoagulant use.
9.Risk Factors Associated with Middle Ear Barotrauma in Patients Undergoing Monoplace Hyperbaric Oxygen Therapy
Yoon Sung LEE ; Sang Won KO ; Hyoung Youn LEE ; Kyung Hoon SUN ; Tag HEO ; Sung Min LEE
Yonsei Medical Journal 2025;66(5):302-309
Purpose:
This study aimed to identify independent risk factors for middle ear barotrauma (MEB) symptoms in patients undergoing monoplace hyperbaric oxygen therapy (HBOT).
Materials and Methods:
We analyzed data from a single-center study involving 296 patients who received monoplace HBOT.Through multivariable logistic regression analysis, we examined the relationship between various factors and the occurrence of MEB to identify significant independent risk factors.
Results:
The multivariable logistic regression analysis indicated that an altered mental state was associated with increased odds of MEB occurrence [odds ratio (OR) 2.50; 95% confidence interval (CI): 1.13–5.51]. Furthermore, patients in the emergency treatment group for HBOT, as defined by the national health insurance in Korea, were found to be 6.75 times more likely to experience MEB (95% CI: 1.33–34.20).
Conclusion
This study identified altered mental status and classification in the emergency treatment group for monoplace HBOT as independent risk factors for MEB. These findings can aid in developing safer protocols for monoplace HBOT chamber operations.
10.Effect of Occlusal and Margin Design on the Fracture Load of Zirconia-Lithium Disilicate Bi-layered Posterior Crowns: An in Vitro Study
Sung-Hoon KIM ; Kyung-Ho KO ; Chan-Jin PARK ; Lee-Ra CHO ; Yoon-Hyuk HUH
Journal of Korean Dental Science 2025;18(1):1-11
Purpose:
The opacity of zirconia sometimes requires a veneering material; thus lithium disilicate, a veneer material with excellent strength, can be used. This study investigated the fracture resistance of zirconia–lithium disilicate (Zr-LS2) bi-layered crowns according to the design of the substructure.
Materials and Methods:
Five groups of posterior Zr-LS2 restorations (Zirtooth and Amber LiSi-POZ) were fabricated with different zirconia substructure coverage (control group, groups half occlusal zirconia coverage; 1/2OZ, and three-quarter occlusal zirconia coverage; 3/4OZ) and margin designs (control group, groups collar margin; C-M, and collarless margin; Cl-M). All restorations were cemented with self-adhesive resin cement followed by 24-h water storage and thermocycling (10,000 cycles, 5°C and 55°C). The fracture load was measured, and failure mode analysis, fractography, and elemental analysis were performed. The one-way analysis of variance and Fisher’s exact test were performed for statistical analyses (α=.05).
Results:
A significant difference was found in the fracture load of Zr-LS2 restorations according to the zirconia coverage of the occlusal area and margin design (P<.05). Group 3/4OZ was significantly larger than the control group C and 1/2OZ (P<.05). The C-M group had greater fracture loads based on margin design than the control group C and Cl-M (P<.05).
Conclusion
The fracture resistance of posterior Zr-LS2 restorations increased with the zirconia coverage, occlusal thickness, and collar margin.

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