2.Posterior Cerebral Artery Territory Infarction after Bilateral Carotid Artery Stenting
Hyunjun BAE ; Hyesu YUN ; Moses LEE ; Jaemin SHIN ; Keon-Joo LEE ; Chi Kyung KIM ; Kyungmi OH ; Sangil SUH ; Kyubong LEE
Journal of the Korean Neurological Association 2026;44(2):168-172
Carotid artery stenting (CAS) is considered for patients with symptomatic carotid stenosis of 50% or greater. Following CAS, hemodynamic changes can alter the cerebral perfusion status. Furthermore, hypotension and bradycardia may occur due to the stimulation of carotid sinus baroreceptors. A more meticulous approach to these hemodynamic changes is required, especially in patients with bilateral carotid artery stenosis and concurrent multiple cerebrovascular stenoses. This report presents a case of posterior cerebral artery territory infarction that occurred after bilateral CAS.
3.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
4.Association between outdoor clothing use and serum perfluoroalkyl substances (PFAS): Korean National Environmental Health Survey cycle 4
Keon Woo KIM ; Jisoo KANG ; Seong-yong CHO ; Seongyong YOON ; Daehwan KIM ; Hyun Woo PARK
Annals of Occupational and Environmental Medicine 2026;38(1):e4-
Background:
Perfluoroalkyl substances (PFAS) are used in various products, and PFAS have been detected in outdoor clothing. PFAS can be absorbed into the human body via oral ingestion, inhalation, and dermal contact. In this study, we examined the association between the frequency of using outdoor clothing and serum PFAS concentrations in the Korean population using data from cycle 4 (2018–2020) of the Korean National Environmental Health Survey.
Methods:
Data from 2,993 adult participants were analyzed. The participants were classified into low-concentration and high-concentration groups based on the 75th percentile concentration of serum PFAS. The use of outdoor clothing was categorized into three groups: non-use, <4 times a week, and ≥4 times a week. The odds ratio (OR) for serum PFAS levels associated with use of outdoor clothing was determined through logistic regression analysis, adjusted for demographic characteristics, health-related factors, PFAS-treated items, dietary factors, and ventilation time.
Results:
ORs for high serum PFAS were higher in groups using outdoor clothing compared to the non-user group. In males, the adjusted ORs for the < 4 times a week and ≥ 4 times a week outdoor clothing usage group were as follows: perfluorooctanoic acid (PFOA), 1.26 (95% confidence interval [CI]: 1.10–1.44) and 1.70 (1.40–2.07); perfluorohexanesulfonic acid (PFHxS), 1.49 (1.16–1.92) and 1.70 (1.22–2.37); and perfluorononanoic acid (PFNA), 1.34 (1.19–1.51) and 1.68 (1.38–2.05), respectively. In females, the respective ORs were as follows: PFOA 1.32 (95% CI: 1.19–1.46) and 1.53 (1.01–2.32); PFHxS, 1.46 (1.08–1.96) and 2.63 (2.10–3.29); PFNA, 1.38 (1.22–1.55) and 1.45 (1.07–1.96).
Conclusions
In adults, elevated serum PFAS levels were associated with increased frequency of using outdoor clothing.
5.Analysis of the Difference in Treatment Persistence by Type of Long-Acting Injectable Antipsychotics
Tong Keon KIM ; Minjung HONG ; Seoyoung KIM ; Euitae KIM
Korean Journal of Schizophrenia Research 2026;29(1):34-42
Objectives:
This study compared treatment persistence between aripiprazole once-monthly (AOM) and paliperidone palmitate 1-month (PP1M) in patients with schizophrenia spectrum disorders using long-term real-world data from a single university hospital.
Methods:
This retrospective cohort study analyzed electronic medical records of patients treated with long-acting injectable antipsychotics. To reduce structural bias, only patients receiving 1-month formulations, AOM or PP1M, were included. Discontinuation was defined as the absence of an additional injection for more than 60 days after the scheduled date. Kaplan-Meier survival analysis and Cox proportional hazards models were used to evaluate treatment persistence.
Results:
A total of 308 patients were analyzed (AOM, n=145; PP1M, n=163). The AOM group had a significantly higher proportion of patients without treatment discontinuation than the PP1M group (52.4% vs. 29.5%, p<0.001). PP1M was associated with a significantly higher hazard of treatment discontinuation than AOM (hazard ratio=1.93, 95% confidence interval=1.40-2.65, p<0.001). The distribution of discontinuation reasons did not differ significantly between groups (p=0.705).
Conclusion
AOM was associated with significantly longer treatment persistence than PP1M. These findings suggest that long-acting injectable agent selection may meaningfully influence long-term treatment continuity and should be considered when individualizing maintenance treatment strategies for schizophrenia spectrum disorders.
6.A Novel Anti-Fibrotic Role of G-Protein-Coupled Receptor 119 in Hepatic Stellate Cells
Jeongwoo PARK ; Min Hoo LEE ; Hyun Young KIM ; Hyo Seon KIM ; Sang Kyum KIM ; Jin Won YANG ; Keon Wook KANG
Biomolecules & Therapeutics 2026;34(3):666-675
Liver fibrosis arises from chronic hepatic injury and remains a major clinical challenge due to the lack of effective therapies.Although G-protein-coupled receptor 119 (GPR119) has been explored as a metabolic target in type 2 diabetes, its role in liver fibrogenesis is not well understood. In this study, the protein and mRNA expression of GPR119 were detected in mouse primary hepatic stellate cells (HSCs) using immunostaining and reverse transcriptase-polymerase chain reaction. The anti-fibrotic activities of GPR119 agonists were assessed in primary HSCs, LX-2 cells, and a carbon tetrachloride (CCl₄)–induced mouse model of liver fibrosis. Treatment with the GPR119 agonists MBX-2982 and GSK1292263 inhibited HSC activation, suppressed transforming growth factor-β1 (TGFβ1)–induced Smad2/3 phosphorylation, and reduced the expression of fibrogenic genes. In vivo, oral administration of MBX-2982 attenuated collagen accumulation and decreased hepatic α-smooth muscle actin and TGFβ expression in CCl₄-treated mice. Mechanistically, MBX-2982 activated AMP-activated protein kinase (AMPK), and pharmacological inhibition of AMPK reversed its anti-fibrogenic effects. MBX-2982 further reduced Smad3 acetylation by disrupting the interaction between Smad3 and p300 and promoting AMPK-dependent proteasomal degradation of p300. These results identify GPR119 as a regulator of HSC activation and highlight GPR119 agonists as promising therapeutic candidates for liver fibrosis.
7.Safety and Effectiveness of Eribulin in Patients with Advanced or Metastatic Breast Cancer Previously Treated with Anthracyclines and Taxanes in Real-World Clinical Practice: A 6-Year Post-marketing Surveillance Study in South Korea
Yee Soo CHAE ; Kyung A KWON ; Moon Hee LEE ; Mi Sun AHN ; Kyung-Hun LEE ; Su-Jin KOH ; Joohyuk SOHN ; Keon Uk PARK ; Min Young KIM ; Youngji PYO ; Bo Young KIM ; Kyung Hae JUNG
Cancer Research and Treatment 2026;58(2):513-524
Purpose:
This 6-year post-marketing surveillance (PMS) study was conducted in South Korea to evaluate the real-world safety and effectiveness of eribulin in patients with advanced or metastatic breast cancer previously treated with anthracyclines and taxanes.
Materials and Methods:
During the study period (17 August 2012 to 16 August 2018), case-report files (CRFs) of patients receiving eribulin were collected. The main study endpoint was to assess the safety of eribulin. Evaluation of the effectiveness of eribulin was an exploratory endpoint. Patients were followed for 1 year after eribulin initiation.
Results:
CRFs were collected from 64 investigators at 64 sites for 1,079 patients. The safety analysis set (SAS) included 1,001 eribulin recipients; effectiveness was assessed in 244 patients. In the SAS, patients were predominantly female (99.6%), with a median age of 53.0 years, and diagnosed with metastatic breast cancer (92.0%). Eribulin was administered as a median 4th line chemotherapy. A total of 2,124 treatment-emergent adverse events (TEAEs) were reported in 661 patients (66.0%). Neutropenia was the most common TEAE (32.5% of patients), occurring at a median of 9-11 days from initial eribulin administration. Overall response and disease control rates were 31.7% and 95.6%, respectively, and the median duration of eribulin use (time to treatment failure) was 3.0 months.
Conclusion
This large real-world PMS analysis in patients with advanced or metastatic breast cancer demonstrated the effectiveness of eribulin and found no new safety concerns relative to safety information from prior clinical and real-world studies, and approvals in South Korea and other countries.
8.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.
9.Clinical Application of Pharmacogenomics in Stroke Management: Current Evidence and Future Directions
Keon-Joo LEE ; Minkyung KANG ; Eung Joon LEE ; Jaeseong OH ; Na-Young HAN ; Jeong-Yoon LEE ; Joo-Yeon LEE ; Soo Ji LEE ; Stéphanie DEBETTE ; Guillaume PARÉ ; Daniel WOO ; Andrew ELDEIRY ; Young Seo KIM ; Jinkwon KIM ; Jong-Moo PARK ; Juneyoung LEE ; Joohon SUNG ; Jay Chol CHOI ; Hee-Joon BAE
Journal of Stroke 2026;28(1):58-75
Pharmacogenomic variations may significantly influence responses to commonly prescribed stroke medications. Despite accumulating evidence, genetic testing has not yet been widely integrated into stroke care. This review summarizes current evidence and provides practical guidance for clinical implementation. Pharmacogenomic studies and clinical guidelines related to antiplatelet agents, anticoagulants, and statins were reviewed, with particular emphasis on East Asian populations. Substantial evidence supports genotype-guided use of clopidogrel (CYP2C19), warfarin (CYP2C9, VKORC1, CYP4F2), and statins (SLCO1B1, ABCG2). For aspirin, PTGS1/2 and PEAR1 variants have been investigated; however, current data remain insufficient for clinical application. Regarding direct oral anticoagulants (DOACs), candidate genes such as ABCB1 and CES1 demonstrate pharmacokinetic associations, though robust clinical outcome data are lacking. Distinct allele frequencies in East Asians—such as higher prevalence of CYP2C19 and ABCG2 variants—underscore the need for population-specific strategies. Beyond single-gene approaches, polygenic risk scores, pharmacogenomic panels, and integration with multi-omics data and artificial intelligence represent promising directions for personalized therapy. Pharmacogenomic testing can enhance stroke pharmacotherapy, particularly in populations with high frequencies of actionable variants. Broader implementation requires rapid testing platforms, clinician education, tailored clinical guidelines, and real-world validation of aspirin, DOACs, and multi-gene approaches. Future research should expand population-specific studies and integrate pharmacogenomics within the broader framework of precision medicine to ensure equitable clinical benefit.
10.Korean colorectal cancer screening guidelines for asymptomatic, average-risk adults: the 2025 revision
EunKyo KANG ; Jae Myung CHA ; Seo Young KANG ; Kiheon LEE ; Su Young KIM ; Younghoon KIM ; An Na SEO ; Hyo-Jin KANG ; Jong Keon JANG ; Kwang-Pil KO ; Aesun SHIN ; Dae Kyung SOHN ; Youngki HONG ; Eun-Jung CHO ; Minje HAN ; Soo Young KIM ; Hyeon Ji LEE ; Chang Kyun CHOI ; Mina SUH
Journal of the Korean Medical Association 2026;69(3):268-280
Purpose:
To develop the 2025 update to the Korean colorectal cancer (CRC) screening guidelines by systematically evaluating recent evidence, integrating domestic data, and addressing changes since the 2015 guideline revision, thereby providing an evidence-based standard for clinicians and policymakers.
Methods:
A multidisciplinary committee developed the guidelines using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology. The process included formulation of three key questions addressing screening efficacy, diagnostic accuracy, and optimal screening age and interval. A systematic review of international guidelines and primary literature was conducted, yielding 327 eligible studies. In addition, a utility-based analysis using a Markov model was performed to determine optimal screening ages and intervals.
Results:
The evidence synthesis identified high-certainty evidence supporting the use of the fecal immunochemical test (FIT) for reducing CRC mortality and moderate-certainty evidence for colonoscopy. Evidence for computed tomographic colonography (CTC) and stool DNA testing was rated as very low certainty. Based on the evidence review and cost-utility analysis, the committee conditionally recommends CRC screening for asymptomatic, average-risk adults aged 45–74 years using either colonoscopy every 10 years or FIT every 1–2 years. CTC and stool DNA testing were not recommended owing to insufficient evidence.
Conclusion
The 2025 Korean Guidelines for Colorectal Cancer Screening present updated, evidence-based recommendations tailored to the domestic healthcare context. By conditionally endorsing both colonoscopy and FIT for individuals aged 45–74 years, these guidelines aim to improve population-level screening effectiveness and reduce the burden of CRC in South Korea.

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