Journal of Korean Medical Science最新文献

{"title":"Prevalence and Incidence of Ethambutol-Induced Optic Neuropathy and Its Risk Factors in Korea: A Nationwide Population-Based Study.","authors":"Songmin Lee, Won Yeol Ryu, Dongwoo Kang, Jung Kuk Lee","doi":"10.3346/jkms.2025.40.e65","DOIUrl":"10.3346/jkms.2025.40.e65","url":null,"abstract":"<p><strong>Background: </strong>A national study was conducted using data from the National Health Insurance database to determine the prevalence, incidence, and risk factors for ethambutol-induced optic neuropathy (EON) in South Korea.</p><p><strong>Methods: </strong>This retrospective population-based study was conducted from 2011 to 2020. The participants were identified via registered prescription codes between 2011 and 2018. Individuals with records mimicking EON or individuals diagnosed with EON at least once were excluded. A total of 315,888 patients were divided into a case group (EON) and a control group (non-EON).</p><p><strong>Results: </strong>Among 315,888 participants aged > 20 years, 2,703 cases of EON were identified, including 1,438 females (53.2%) and 1,265 males (46.8%). The estimated prevalence of EON was 8.54 cases per 1,000 persons (95% confidence interval [CI], 8.53-8.55), and the incidence was 159.16 cases per 100,000 person-years (95% CI, 153.27-165.28). The overall male-female ratio was 0.65 for prevalence and 0.69 for incidence. EON patients were more likely to be older (adjusted odds ratio [OR], 1.88; 95% CI, 1.38-2.58), have diabetes (adjusted OR, 1.14; 95% CI, 1.03-1.26), and have renal diseases (without end-stage renal disease [ESRD], adjusted OR = 1.64, 95% CI, 1.3-2.06; with ESRD, adjusted OR, 2.69; 95% CI, 1.92-3.76) than non-EON patients were. Patients with an EMB prescription duration ≥ 6 months had an elevated risk of EON compared with those with a prescription duration < 2 months (OR, 1.44; 95% CI, 1.30-1.60, adjusted for age, sex, hypertension, diabetes, and renal diseases).</p><p><strong>Conclusion: </strong>The cumulative incidence of EON was 0.9%. The prevalence and incidence rates of EON were higher among women than men. Age, diabetes, renal diseases, and duration of EMB prescription were risk factors for developing EON. These findings could be valuable for the prevention or early management of EON patients.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 20","pages":"e65"},"PeriodicalIF":3.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144159421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and Characteristics of Infectious Complications in Multiple Myeloma Patients Treated With Bispecific Antibodies.","authors":"Taekeun Park, Sukjin Jang, Youngil Koh, Dong-Yeop Shin, Sung-Soo Yoon, Chan Mi Lee, Hyeon Jae Jo, Pyoeng Gyun Choe, Wan Beom Park, Nam Joong Kim, Chang Kyung Kang, Ja Min Byun","doi":"10.3346/jkms.2025.40.e86","DOIUrl":"10.3346/jkms.2025.40.e86","url":null,"abstract":"<p><strong>Background: </strong>Bispecific antibodies (BsAbs) are a new class of immunotherapeutic agents for patients with multiple myeloma (MM). Although this new class of drug is associated with good disease control, they are also associated with increased risk of infectious complications. Since endemic community-acquired and nosocomial infections vary across the globe, we conducted this study to report real-world data of infectious complications associated with BsAbs in Korean population.</p><p><strong>Methods: </strong>We retrospectively reviewed all MM patients who received BsAb therapy between January 2021 and January 2024 at Seoul National University Hospital. We identified 61 patients who underwent BsAb therapy at our center with median follow-up of 34 weeks (95% confidence interval, 25.85-55.85). Thirty-three patients (54%) received B-cell maturation antigen (BCMA)-targeting BsAb, and 30 (49%) received combination therapy.</p><p><strong>Results: </strong>Of the 61 patients, 39 (64%) had at least one episode of infection. A total of 69 infections affecting patient management occurred during the study period, 3% grade 1 infection, 8% grade 2, 72% grade 3, 8% grade 4 and 8% grade 5. The most common type of infection was lower respiratory tract infection (n = 32/69, 46%), followed by systemic infection (n = 21/69, 30%). Etiology wise, viral infections were most common (67%), followed by fungal infections (13%) and bacterial infections (10%). Among viral infections, cytomegalovirus (CMV) was most common. Patients treated with BCMA-targeting BsAb or combination therapy were associated with higher incidence of CMV reactivation and clinically significant CMV infection.</p><p><strong>Conclusion: </strong>Particular pattern of infectious complications including CMV infection was noted in Korean patients. Identifying and determining the nature of infectious disease dynamics is becoming increasingly important for optimal resource allocation and shaping healthcare policies. In this regard, our first-in-Asian population study holds its value.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 20","pages":"e86"},"PeriodicalIF":3.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144159497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Extended Steroid Treatment With Bloodstream Infection in Critically Ill Patients With COVID-19: A National, Multicenter, Propensity Score-Matched Study.","authors":"Seohyun Kim, Jiwon Ryoo, Hyeong Jun Cho, Seok Chan Kim, Sunghoon Park, Su Hwan Lee, Onyu Park, Taehwa Kim, Hye Ju Yeo, Jin Ho Jang, Woo Hyun Cho, Jongmin Lee","doi":"10.3346/jkms.2025.40.e82","DOIUrl":"10.3346/jkms.2025.40.e82","url":null,"abstract":"<p><strong>Background: </strong>The impact of steroid treatment on mortality outcomes in patients with coronavirus disease 2019 (COVID-19) has been widely demonstrated, while its effect on secondary infections, such as bloodstream infections (BSIs), is controversial. Recent studies have reported the survival benefits of using steroids for a standard duration compared to extended use, though their impact on the risk of BSIs remains debated. This study investigated whether extended steroid use is associated with the risk of BSIs and mortality in critically ill patients with COVID-19.</p><p><strong>Methods: </strong>This national multicenter retrospective study conducted at 22 university-affiliated hospitals evaluated the effect of steroid treatment duration in hospitalized patients with COVID-19 treated with more than high-flow nasal cannula therapy. Patients were divided into two groups according to the duration of corticosteroid treatment: extended (> 10 days) and standard (≤ 10 days). Propensity score matching was performed by adjusting for covariates. Baseline characteristics and clinical outcomes were compared between the two groups.</p><p><strong>Results: </strong>Among 1,114 patients, 378 with a hospital length of stay (LOS) exceeding 10 days were included. Each group of the propensity score-matched cohort had 189 patients, with no significant differences in demographic characteristics between the two groups, except for the incidence of BSIs (extended group vs. standard group, 49.7% vs. 36.0%, <i>P</i> = 0.043). After adjusting for confounding factors, extended use of steroids remained significantly associated with BSIs (odds ratio [OR], 2.25; 95% confidence interval [CI], 1.25-4.04; <i>P</i> = 0.007). The use of a mechanical ventilator, extracorporeal membrane oxygenation, continuous renal replacement therapy, and a longer hospital LOS were associated with BSIs. In-hospital mortality was associated with an older age, higher body mass index, higher sequential organ failure assessment score at admission, and the presence of a BSI (OR, 2.47; 95% CI, 1.50-4.05; <i>P</i> < 0.001). Kaplan-Meier survival analysis demonstrated no significant difference in in-hospital mortality between the extended and standard groups.</p><p><strong>Conclusion: </strong>Extended steroid therapy was significantly associated with a higher incidence of BSIs in critically ill patients with COVID-19.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 20","pages":"e82"},"PeriodicalIF":3.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144159493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How to Reduce Diarrheal Diseases in North Korean Children?: Prioritizing From Limited Resources and Limited Data Resources.","authors":"Dae Sun Jo","doi":"10.3346/jkms.2025.40.e169","DOIUrl":"10.3346/jkms.2025.40.e169","url":null,"abstract":"","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 19","pages":"e169"},"PeriodicalIF":3.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Practicability of Suicide Reduction Target in Korean Suicide Prevention Policy: Insights From Time Series Analysis.","authors":"Seunghyong Ryu, Seon-Hwa Baek, Min Jhon, Honey Kim, Ju-Yeon Lee, Jae-Min Kim, Sung-Wan Kim","doi":"10.3346/jkms.2025.40.e59","DOIUrl":"10.3346/jkms.2025.40.e59","url":null,"abstract":"<p><strong>Background: </strong>This study evaluated the practicability of the suicide rate reduction target set by the current national suicide prevention policy in Korea, the fifth Master Plan for Suicide Prevention (2023-2027). This policy aims to lower the suicide rate from 26/100,000 in 2021 to 18.2/100,000 by 2027.</p><p><strong>Methods: </strong>We utilized monthly suicide statistics data from 2011 onwards. Using Bayesian regression and Autoregressive Integrated Moving Average (ARIMA) models, we conducted interrupted time series analyses to estimate the effect of the previous policy, the National Action Plan for Suicide Prevention (2018-2022), on suicide rates. We assumed this as the additional suicide reduction expected from the current policy. We generated point predictions and simulations for suicide rates from 2023 to 2027 using Bayesian regression and ARIMA models.</p><p><strong>Results: </strong>The interrupted time series analyses did not reveal a significant reduction in suicides attributable to the previous policy. Point predictions from the two models indicated that the suicide rate would remain approximately 24/100,000 in 2027. Almost all of the simulations of the 2027 suicide rate did not meet the policy target of 18.2/100,000.</p><p><strong>Conclusion: </strong>The findings suggest that the Korean government's suicide rate reduction target for 2027 is likely unattainable based on current trends and the limited effectiveness of previous policies. The objectives of suicide prevention policies should be evidence-based, attainable, and accountable.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 19","pages":"e59"},"PeriodicalIF":3.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144102039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amplicon-Based MinION Sequencing Complements Severe Fever With Thrombocytopenia Syndrome (SFTS) Diagnosis via Real-Time RT-PCR in Patients With Suspected SFTS.","authors":"Sara P Prayitno, Yeong Geon Cho, Eun Sil Kim, Kyungmin Park, Seonghyeon Lee, Augustine Natasha, Jieun Park, Jin-Won Song, Yang Soo Kim, Seung Soon Lee, Won-Keun Kim","doi":"10.3346/jkms.2025.40.e69","DOIUrl":"10.3346/jkms.2025.40.e69","url":null,"abstract":"<p><strong>Background: </strong>Severe fever with thrombocytopenia syndrome virus (SFTSV) is a lethal threat. Increasing Severe fever with thrombocytopenia syndrome (SFTS) risk in Asia and the United States stems from the spread of natural host, <i>Haemaphysalis longicornis</i>. Rapid and accurate SFTSV molecular diagnosis is crucial for treatment decisions, reducing fatality risk.</p><p><strong>Methods: </strong>Blood samples from 17 suspected SFTS patients at Chuncheon Sacred Heart Hospital (September-December 2022) were collected. SFTSV was diagnosed using two reverse transcription-quantitative polymerase chain reaction (RT-qPCR) assays from Gangwon Institute of Health and Environment (RT-qPCR/GIHE) and Asan Medical Center (RT-qPCR/AMC). To address RT-qPCR disparities, amplicon-based MinION sequencing traced SFTSV genomic sequences in clinical samples.</p><p><strong>Results: </strong>In two samples (N39 and N50), SFTSV was detected in both RT-qPCR/GIHE and RT-qPCR/AMC. Among 11 samples, RT-qPCR/AMC exclusively detected SFTSV. In four samples, both assays yielded negative results. Amplicon-based MinION sequencing enabled nearly whole-genome sequencing of SFTSV in samples N39 and N50. Among 11 discordant samples, five contained significant SFTSV reads, aligning with the RT-qPCR/AMC findings. However, another six samples showed insufficient viral reads in accordance with the negativity observed in RT-qPCR/GIHE. The phylogenetic pattern of SFTSV demonstrated N39 formed a genetic lineage with genotype A in all segments. SFTSV N50 grouped with the B-1 sub-genotype for L segment and B-2 sub-genotype for the M and S segments, indicating genetic reassortment.</p><p><strong>Conclusion: </strong>The study demonstrates the robust sensitivity of amplicon-based MinION sequencing for the direct detection of SFTSV in clinical samples containing ultralow copies of viral genomes. Next-generation sequencing holds potential in resolving SFTSV diagnosis discrepancies, enhancing understanding of diagnostic capacity, and risk assessment for emerging SFTSV.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 19","pages":"e69"},"PeriodicalIF":3.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antimicrobial Resistance - The 'Real' Pandemic We Are Unaware Of, Yet Nearby.","authors":"Jin-Hong Yoo","doi":"10.3346/jkms.2025.40.e161","DOIUrl":"10.3346/jkms.2025.40.e161","url":null,"abstract":"<p><p>Antimicrobial resistance (AMR) represents a persistent and escalating public health crisis, often overlooked despite its severe global impact. Unlike acute infectious diseases, AMR progresses silently but relentlessly, posing long-term threats to health systems worldwide. This review examines the historical evolution and current epidemiology of multidrug-resistant organisms (MDROs), emphasizing the global and Korean burden of MDROs. While the development of new antibiotics remains limited, alternative therapies such as bacteriophage treatment have re-emerged as potential solutions. However, challenges in access to novel agents persist, particularly in Korea, due to regulatory, economic, and market-related barriers. To counter AMR, comprehensive strategies are essential. These include infection control, antibiotic stewardship programs (ASPs), and the development and proper allocation of new drugs. The One Health approach must integrate human, animal, and environmental health perspectives. Notably, infectious disease specialists play a central role in this fight: leading ASPs, shaping policy, engaging in public education, supporting research, and coordinating multidisciplinary collaboration. The AMR pandemic is unlikely to subside without systemic reform, sustained investment, and international cooperation. Urgent efforts must be made to address this hidden but growing threat. Recognizing AMR as a true pandemic is the first step toward containing its spread and securing the efficacy of antibiotics for future generations.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 19","pages":"e161"},"PeriodicalIF":3.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Childhood Diarrheal Diseases in North Korea: A Narrative Review on Research Topics and Treatments.","authors":"Taehoon Kim, Jieun Jeon, Hyungsoon Ahn, Jin Soo Moon","doi":"10.3346/jkms.2025.40.e70","DOIUrl":"10.3346/jkms.2025.40.e70","url":null,"abstract":"<p><strong>Background: </strong>Diarrheal disease accounts for a large proportion of childhood deaths in North Korea, however, information regarding its management in North Korean clinical settings is limited. The absence of a reliable diarrheal disease database hinders efforts to determine priorities for support.</p><p><strong>Methods: </strong>Articles published in three major North Korean medical journals between 2012 and 2019 were analyzed to determine the clinical aspects of diagnosing and treating diarrhea. A total of 43 articles were identified during the screening process. Original articles and case reports focusing on the clinical features of diarrheal disease in the pediatric population were included.</p><p><strong>Results: </strong>The clinical features and markers of several types of diarrheal diseases, including infectious diarrhea (20.9%) and diarrhea due to indigestion or malabsorption (18.6%), were assessed. Healthcare providers used multiple treatment modalities, including rehydration solutions, antibiotics, probiotics, and vitamin supplementation. Therapeutic trials on North Korean Oriental medicine were also conducted in more than half of the studies (55.8%).</p><p><strong>Conclusion: </strong>This review provides insights into understanding the types of diarrhea and unmet needs in clinical settings in North Korea. Follow-up studies are required to interpret the situation in detail.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 19","pages":"e70"},"PeriodicalIF":3.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.","authors":"Soo-Hyun Kim, Yunjung Choi, Young-Chul Choi, Seung Woo Kim, Ha Young Shin, Hyung Jun Park","doi":"10.3346/jkms.2025.40.e68","DOIUrl":"10.3346/jkms.2025.40.e68","url":null,"abstract":"<p><strong>Background: </strong>Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population.</p><p><strong>Methods: </strong>In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants.</p><p><strong>Results: </strong>We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. <i>DYSF</i> exhibited the highest carrier frequency (1.63%), followed by <i>GAA</i> (1.55%), <i>HEXB</i> (1.53%), <i>PREPL</i> (0.76%), <i>NEB</i> (0.66%), <i>ADSS1</i> (0.65%), <i>ALPK3</i> (0.65%), and <i>CHRNG</i> (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. <i>DYSF</i> (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in <i>HEXB</i> at 0.00764, followed by c.[752T>C; c.761C>T] in <i>GAA</i> at 0.00505, and c.2055+2T>G in <i>DYSF</i> at 0.00437.</p><p><strong>Conclusion: </strong>Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 19","pages":"e68"},"PeriodicalIF":3.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Radiation-Induced Meningiomas Have an Aggressive Clinical Course: Genetic Signature Is Limited to <i>NF2</i> Alterations, and Epigenetic Signature Is H3K27me3 Loss.","authors":"Tae-Kyun Kim, Jong Seok Lee, Ji Hoon Phi, Seung Ah Choi, Joo Whan Kim, Chul-Kee Park, Hongseok Yun, Young-Soo Park, Sung-Hye Park, Seung-Ki Kim","doi":"10.3346/jkms.2025.40.e62","DOIUrl":"10.3346/jkms.2025.40.e62","url":null,"abstract":"<p><strong>Background: </strong>While the clinical course of radiation-induced meningioma (RIM) is considered to be more aggressive than that of sporadic meningioma (SM), the genetic predisposition for RIM is not established well. The present study aimed to analyze the clinical and genetic characteristics of RIMs to increase understanding of the tumorigenesis and prognosis of RIMs.</p><p><strong>Methods: </strong>We investigated a database of 24 patients who met the RIM criteria between January 2000 and April 2023. Genetic analysis through next-generation sequencing with a targeted gene panel was performed on 10 RIM samples. Clinical, radiological, and pathological parameters were evaluated with genetic analyses.</p><p><strong>Results: </strong>The median ages for receiving radiotherapy (RT) and RIM diagnosis were 8.0 and 27.5 years, respectively, with an interval of 17.5 years between RT and RIM diagnosis. RIMs tended to develop in non-skull bases and multifocal locations. Most primary pathologies included germ cell tumors and medulloblastoma. The tumor growth rate was 3.83 cm³ per year, and the median doubling time was 0.8 years. All patients underwent surgical resection of RIMs. The histological grade of RIMs was World Health Organization grade 1 (64%) or 2 (36%). RIMs showed higher incidences in young-age (63%), high-dose (75%), and extended-field (79%) RT groups. The recurrence rate was 21%. Genetic analysis revealed <i>NF2</i> one copy loss in 90% of the patients, with truncating <i>NF2</i> mutations and additional copy number aberrations in grade 2 RIMs. <i>TERT</i> promoter mutation and <i>CDKN2A/B</i> deletion were not identified. Notably, loss of H3K27me3 was identified in 26% of RIMs. H3K27me3 loss was associated with a higher prevalence of grade 2 RIMs (67%) and high recurrence rates (33%).</p><p><strong>Conclusion: </strong>The study reveals a higher prevalence of high-grade tumors among RIMs with more rapid growth and higher recurrences than SMs. Genetically, RIMs are primarily associated with <i>NF-2</i> alterations with chromosomal abnormalities in grade 2 tumors, along with a higher proportion of H3K27me3 loss.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"40 18","pages":"e62"},"PeriodicalIF":3.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12070044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}