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.Optimal use and cycling strategies of Janus kinase inhibitors in ulcerative colitis: current evidence and clinical implications from the KASID Guidelines Task Force Team
Seung Min HONG ; Dong Hyun KIM ; June Hwa BAE ; Seung Yong SHIN ; Eun Mi SONG ; Ji Eun KIM ; Young Joo YANG ; Jiyoung YOON ; Sang-Bum KANG ; Eun Soo KIM ; Seong-Eun KIM ; Seong-Jung KIM ; Jun LEE ; Soo-Young NA ; Soo Jung PARK ; Sang Hyoung PARK ; Miyoung CHOI ; Myung Ha KIM ; Won MOON ; Sung-Ae JUNG ;
Intestinal Research 2026;24(1):27-37
Janus kinase (JAK) inhibitors are an important treatment option for ulcerative colitis, providing rapid onset of action, oral administration, and efficacy even after biologic failure. The 3 approved agents—tofacitinib, filgotinib, and upadacitinib—differ in JAK isoform selectivity, leading to clinically meaningful differences in efficacy and safety. Evidence from network meta-analyses, clinical trials, and real-world studies consistently shows that upadacitinib provides the highest efficacy for induction and maintenance of remission, whereas filgotinib demonstrates the most favorable safety profile. The strong efficacy of upadacitinib and tofacitinib is particularly relevant in patients with severe disease, including acute severe ulcerative colitis, and upadacitinib maintains high efficacy regardless of prior advanced therapy exposure. JAK inhibitors also benefit extraintestinal manifestations. Although risks such as herpes zoster, serious infection, thromboembolism, and major cardiovascular events differ among agents, long-term data suggest generally acceptable safety when used appropriately. Intraclass JAK-to-JAK cycling is feasible, with about half of patients achieving steroid-free clinical remission in retrospective cohorts. Based on mechanistic, clinical, and real-world evidence, filgotinib may be a first-line option for patients with lower disease activity or when safety is a priority, whereas upadacitinib or tofacitinib may be preferred in higher disease activity. Strategically selecting agents may improve durability and outcomes.
3.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2026;34(1):108-108
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.Sarcopenia: From Global Consensus to Korean Implementation — A Narrative Review and Standpoint
Geon Young JANG ; Sunghwan JI ; Heewon JUNG ; Ji Yeon BAEK ; Il-Young JANG ; Kyoung Min KIM ; Miji KIM ; Clara Yongjoo PARK ; Kwang-Pyo LEE ; Dongryeol RYU ; Sang Yoon LEE ; Ok Hee JEON ; Sunyoung KIM ;
Annals of Geriatric Medicine and Research 2026;30(1):3-17
Sarcopenia is a major geriatric syndrome characterized by progressive loss of muscle mass and strength, resulting in disability and mortality. This narrative review synthesizes international consensus recommendations and Korean evidence to guide context-specific sarcopenia management strategies. PubMed, Embase, Cochrane Library, and KoreaMed (January 2000–November 2025) were searched, focusing on randomized trials, meta-analyses, systematic reviews, clinical practice guidelines, and large observational studies. Global diagnostic frameworks have evolved from muscle mass-based definitions toward multidimensional models that incorporate muscle strength and physical performance. Exercise and nutrition remain the mainstay treatments, with resistance-based training and adequate protein intake. Currently, pharmacologic options with proven clinical benefit are limited. In Korea, growing evidence supports the effectiveness of community-based sarcopenia interventions, underscoring the need for standardized, integrated delivery models that bridge the fragmented healthcare system and enable sustainable implementation.
6.The impact of the preoperative value of phase angle in bioelectrical impedance analysis on postoperative complications after pancreaticoduodenectomy
Young Jae CHO ; Yoon Soo CHAE ; Go-Won CHOI ; Inhyuck LEE ; Younsoo SEO ; Seulah PARK ; Youngmin HAN ; Hye-sol JUNG ; Wooil KWON ; Jin-Young JANG ; Joon Seong PARK
Annals of Hepato-Biliary-Pancreatic Surgery 2026;30(1):67-75
Background:
s/Aims: Phase angle (PhA), as measured by bioelectrical impedance analysis, provides insights into hydration and nutritional status, making it a prognostic indicator of frailty. While low preoperative PhA has been linked to postoperative complications in cancer patients, its predictive value in individuals undergoing pancreaticoduodenectomy (PD) has not been thoroughly investigated.This study aims to evaluate the clinical utility of preoperative PhA in predicting postoperative complications for patients undergoing PD.
Methods:
Among 41 patients who underwent PD at Seoul National University Hospital between September and December 2024, 35 were included in the analysis after excluding 6 patients who had concomitant blood vessel or other organ resections. Patients were divided into low (Comprehensive Complication Index [CCI] ≤ 20) and high (CCI > 20) complication groups based on the CCI, derived from the Clavien–Dindo classification. The differences in PhA between the two groups were analyzed, and logistic regression was performed to assess the relationship between PhA and CCI.
Results:
The mean PhA was significantly lower in the high-CCI group compared to the low-CCI group (5.7° vs. 6.7°, p = 0.025). Multivariate logistic regression analysis indicated that PhA (odds ratio: 0.17; 95% confidence interval: 0.04–0.68; p = 0.012) was an independent predictor of high CCI. A low preoperative PhA was associated with an increased risk of postoperative complications following PD.
Conclusions
Preoperative PhA may serve as a valuable predictive indicator of postoperative complications after PD, enabling the identification of patients who could benefit from preoperative prehabilitation, including nutritional support.
8.Clonal Burden, Immunoglobulin Heavy Chain Variable Gene Somatic Hypermutations, and Immunoglobulin Gene Repertoire in Korean Patients with Chronic Lymphocytic Leukemia Assessed by Next-Generation Sequencing
Taegeun LEE ; Daehyun CHU ; Miyoung KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Jung-Hee LEE ; Dok Hyun YOON ; Hyungwoo CHO ; Seongsoo JANG
Annals of Laboratory Medicine 2026;46(2):136-145
Background:
We compared the immunoglobulin (IG) heavy chain (IGH) leader and FR1 primer sets to measure clone sizes and detect immunoglobulin heavy chain variable (IGHV) region somatic hypermutations (SHMs) in Korean patients with chronic lymphocytic leukemia (CLL). We also analyzed IGH and immunoglobulin kappa (IGK) to identify Korean-specific IGs in CLL.
Methods:
Next-generation sequencing (NGS)–based gene rearrangements and IGHV SHMs were assessed in 40 patients using IGH leader, IGH FR1, and IGK primers. Flow cytometry, karyotyping, interphase FISH, and NGS-based variant analyses were performed for 165 genes.
Results:
Clonal IGH and IGK rearrangements were detected in 100.0% and 97.5% of patients, respectively. Clonal size was generally smaller per NGS than per flow cytometry, particularly when using the IGH leader (median: 52.5%) versus the IGH FR1 primer set (73.2%). IGHV SHMs occurred in approximately 70% of patients; 10% showed primer set discrepancies. The incidence of IGHV SHMs was low in patients at high risk (i.e., with TP53 abnormalities; complex karyotypes; and ATM, NOTCH1, SF3B1, or BIRC3 variants). IGHV3 was the most common IGHV (58.3%), and IGHV4-34 was most frequently identified (14.6%). IGHV1 and IGHV1-69 usage differed significantly between Koreans and westerners. IGHJ4 was the most common IGHJ (56.3%). A single IGKV–IGKJ gene rearrangement was most frequently observed (18.9%), whereas intron-KDE was the most common rearrangement (30.6%).
Conclusions
NGS may underestimate CLL clonal size, particularly when using the IGH leader primer set. IGHV SHMs were inversely associated with negative prognostic factors.Our data suggest ethnic differences in CLL pathogenesis.
9.Measuring Trends in Disability-adjusted Life Years and Life Expectancy in Korea: 2008 to 2021
Chung-Nyun KIM ; Dawit Urgi GURMU ; Young-Eun KIM ; Yoon-Sun JUNG ; Yongseok CHOI ; Minsu OCK ; Seok-Jun YOON
Journal of Preventive Medicine and Public Health 2026;59(1):25-34
Objectives:
This study, part of the ongoing Korean National Burden of Disease (KNBD) updates, assesses disability-adjusted life years (DALYs) and disability-adjusted life expectancy (DALE) in Korea, taking into account the effects of coronavirus disease 2019 and emphasizing the importance of analyzing these metrics jointly.
Methods:
Data were obtained from Statistics Korea, the National Health Insurance Service, and the Korea Disease Control and Prevention Agency. DALYs and DALE were calculated using an incidence-based approach, following disease classification, disability weights, and estimation procedures consistent with prior KNBD research.
Results:
Compared with earlier estimates, DALYs showed a slight decline in 2020 followed by an increase in 2021, with this pattern observed across all income quintiles. For DALE, both men and women experienced modest gains relative to earlier studies; however, a decrease occurred across all income levels in 2021 compared with 2020. Regional disparities in DALE also narrowed beginning in 2020, with a more marked reduction among women.
Conclusions
Unlike previous studies, this research presents DALYs and DALE concurrently, offering a more comprehensive perspective on summary measures of population health. The post-2020 rise in DALYs underscores the growing need for effective chronic disease management. Additionally, widening income-based disparities in DALE highlight the urgency of addressing health inequities. Continued monitoring and updates of DALYs and DALE are necessary to understand and respond to these evolving trends.
10.Incidence of active tuberculosis in Korean patients with rheumatoid arthritis: a comparison between tumor necrosis factor inhibitors and tofacitinib
Jeong-Yeon KIM ; Seung-Hun YOU ; Yoon-Kyoung SUNG ; Sun-Young JUNG ; Soo-Kyung CHO
Journal of Rheumatic Diseases 2026;33(2):95-101
Objective:
This study aims to compare the incidence of active tuberculosis (TB) among Korean patients with rheumatoid arthritis (RA) initiating treatment with tumor necrosis factor inhibitors (TNFi) or tofacitinib.
Methods:
Using the Korean National Health Insurance database, we conducted a nationwide, retrospective cohort study of RA patients who started TNFi or tofacitinib therapy between 2015 and 2018. We calculated the incidence rates of active TB based on the treatment type and results from latent tuberculosis infection (LTBI) screening tests. A multivariable Cox proportional hazards model was employed to evaluate the risk of active TB in RA patients beginning TNFi or tofacitinib treatment.
Results:
Among 3,382 RA patients (596 on tofacitinib and 2,786 on TNFi), LTBI screening was predominantly conducted using the IGRA (interferon-gamma release assays) test. Of these patients, 624 (18.5%) with a positive LTBI test received prophylactic treatment. No cases of active TB occurred in tofacitinib users, while 32 cases were observed in TNFi users. The adjusted hazard ratio for active TB in LTBI-positive patients was 5.47 (95% confidence interval 2.74 to 10.92) compared to LTBI-negative patients.In subgroup analyses, TB incidence was significantly higher among individuals aged over 65 years.
Conclusion
Despite LTBI treatment, active TB remains prevalent among RA patients on TNFi therapy and in those with positive LTBI tests.

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