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.

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.

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.

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.

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.

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.

Objective: Recognizing discrimination as a significant public health risk during the coronavirus disease 2019 (COVID-19) pandemic, which coincided with increased drug use and heightened awareness of structural disparities in the United States, we investigated its association with the odds of drug use in a large and diverse cohort from the All of Us Research Program. Methods: In this cross-sectional study, data from 68,976 participants completed the COVID-19 participant experiences (COPE) survey. We applied logistic regression models with propensity score-based overlap weighting to examine associations between everyday discrimination and drug use. Self-reported everyday discrimination score and drug use were the primary exposure and outcome measures, respectively. Results: Of the 67,662 COPE respondents (mean [standard deviation] age, 57.5 [15.9] years; female sex at birth, 43,658 [64.5%]), we identified 15,493 participants with no reported discrimination and 15,493 participants with reported discrimination, after overlap weighting. The odds of drug use in those who reported discrimination was 1.38 (95% confidence interval, 1.32–1.43), with a dose-dependent association based on discrimination score. Participants who experienced discrimination had significantly higher odds of using drugs and this association was particularly pronounced in those under 40 years of age, those assigned female sex at birth, current smokers, individuals undergoing chemotherapy or immunotherapy, and those experiencing unemployment or COVID-19/flu-like symptoms. Conclusion This relationship was observed across various types of drugs and different reasons for discrimination, and it was particularly pronounced in specific subgroups. These findings provide critical evidence for developing targeted preventive interventions; however, further longitudinal studies for causality are warranted.

Objective: Suicide is a leading cause of death among adolescents, and despite the need to distinguish between suicidal consideration and suicide attempts, research focused on suicide attempts remains insufficient. Therefore, this study aims to investigate the influence of self-perceived weight on suicide attempts. Methods: This study utilized data from the Korea Youth Risk Behavior Web-based Survey for its analysis from 2005 to 2023, including a total of 1,156,728 participants. This study utilized various analytical methods to examine the influence of self-perceived weight on suicide attempts. We estimated weighted prevalence and used linear regression to assess temporal trend β coefficients and their differences (βdiff) with 95% confidence intervals (CIs), and survey-weighted logistic regression to estimate weighted odds ratios (wORs) and 95% CIs for the association between self-perceived weight and suicide attempts. Results: A comparison of suicide attempts based on self-perceived weight suggested that individuals who perceived themselves as overweight (weighted prevalence, 3.97% [95% CI, 3.89 to 4.04]) had the highest rate of suicide attempts, followed by those who perceived themselves as underweight (3.36% [95% CI, 3.28 to 3.44]), while those who perceived themselves as having a normal weight (3.20% [95% CI, 3.14 to 3.27]) had the lowest rate. Additionally, females (underweight: 4.47% [95% CI, 4.32 to 4.62]; normal weight: 3.91% [95% CI, 3.81 to 4.01]; overweight: 5.23% [5.11 to 5.35]) experienced more suicide attempts than males (underweight: 2.73% [95% CI, 2.65 to 2.82]; normal weight: 2.43% [95% CI, 2.35 to 2.51]; overweight: 2.60% [95% CI, 2.52 to 2.69]). Conclusion Findings from the present study suggest that self-perceived weight was associated with suicide attempts and interaction analyses indicated a potential sex-based difference in the impact of body image distortion. Therefore, this study suggests the introduction of programs and campaigns aimed at correcting distorted self-perceived weight.

Background: Complete revascularization has demonstrated better outcomes in patients with acute myocardial infarction (AMI) and multivessel disease. However, in the case of left main (LM) culprit lesion AMI with multivessel disease, there is limited evidence to suggest that complete revascularization is better. Methods: We reviewed 16,831 patients in the Korea Acute Myocardial Infarction Registry who were treated from July 2016 to June 2020, and 399 patients were enrolled with LM culprit lesion AMI treated with percutaneous coronary intervention. We categorized the patients as those treated with complete revascularization (n=295) or incomplete revascularization (n=104). The study endpoint was major adverse cardiac and cerebrovascular events (MACCE), a composite of all-cause death, myocardial infarction, ischemia-driven revascularization, stent thrombosis, and stroke. We performed propensity score matching (PSM) and analyzed the incidence of MACCE at 1 year. Results: After PSM, the two groups were well balanced. There was no significant difference between the two groups in MACCE at 1 year (12.1% vs. 15.2%; hazard ratio, 1.28; 95% confidence interval, 0.60–2.74; p=0.524) after PSM. The components of MACCE and major bleeding were also not significantly different. Conclusion There was no significant difference in clinical outcomes between the groups treated with complete or incomplete revascularization for LM culprit lesion AMI with multivessel disease.