1.Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis
Seoyoung LIM ; Kwang Seob LEE ; Dongju WON ; Sung Hyun SEO ; Seung-Tae LEE ; Jong Rak CHOI ; Jieun SEO ; Saeam SHIN
Annals of Laboratory Medicine 2026;46(2):210-219
Background:
Precision oncology is advancing, increasing the demand for comprehensive, non-invasive genomic profiling tools. Liquid biopsy using circulating tumor DNA (ctDNA) enables real-time molecular profiling, treatment monitoring, and early detection of resistance variants. We developed the PAN100 panel (Dxome), a hybridization capture panel targeting 101 genes, as a pan-cancer genotyping assay to detect clinically actionable variants across various cancer types. This study presents the first comprehensive validation of the PAN100 panel including both analytical and clinical performance across eight cancer types using reference materials and matched tissue samples.
Methods:
For analytical validation, we assessed accuracy, limit of detection (LoD), and precision using Seraseq ctDNA v2 Reference Materials (SeraCare, Milford, MA, USA). Clinical validation was performed using plasma samples from 27 patients with eight types of cancer and 17 matched tumor samples. Positive percent agreement (PPA) between ctDNA and tissue next-generation sequencing (NGS) results was assessed using TruSight Oncology 500 and TruSight Tumor 170 assays. The limit of blank (LoB) was evaluated in 34 healthy individuals.
Results:
The PAN100 panel demonstrated high precision and linearity (LoD, 0.3%; 95.0% confidence interval, 0.29–0.35) variant allele frequency. The PPA between ctDNA and tissue NGS was 73.1% for single-nucleotide variants, 80.0% for insertions/deletions, and 74.2% overall. The LoB was 0.00001%.
Conclusions
The PAN100 panel is a robust tool for detecting clinically significant variants with high concordance with tissue NGS. Its sensitivity for low-frequency variants enables real-time treatment adaptation, supporting precision oncology. Its comprehensive design is particularly valuable for challenging diagnoses and clonal evolution monitoring.
3.Atherogenic indices and risk of chronic kidney disease in metabolic derangements: Gangnam Severance Medical Cohort
Donghwan OH ; Seoyoung LEE ; Eunji YANG ; Hoon Young CHOI ; Hyeong Cheon PARK ; Jong Hyun JHEE
Kidney Research and Clinical Practice 2025;44(1):132-144
The effects of atherogenic indices on kidney function remain unclear. This study evaluated the association between atherogenic indices and risk of chronic kidney disease (CKD) in adults with metabolic derangements. Methods: A total of 4,176 participants from the Gangnam Severance Medical Cohort (2006–2021), which consisted of participants who had at least one disease related to metabolic derangements including diabetes mellitus, fatty liver, and hypertension were enrolled and atherogenic indices (lipid ratios including atherogenic index of plasma [AIP]) were assessed. The study endpoint was a composite kidney outcome (estimated glomerular filtration rate [eGFR] of <60 mL/min/1.73 m2 in at least two measurements in participants with baseline eGFR of ≥60 mL/min/1.73 m2; ≥30% decrease in eGFR from baseline in participants with baseline eGFR of <60 mL/min/1.73 m2; or the initiation of dialysis or kidney transplantation). Results: During a median follow-up of 6.0 years (interquartile range, 2.5–11.0 years), 1,266 composite kidney outcomes (30.3%) occurred. The highest quartile of AIP showed a higher risk of composite kidney outcome than the lowest quartile (hazard ratio [HR], 1.31; 95% confidence interval [CI], 1.12–1.54). This association was consistent when the AIP was treated as a continuous variable (HR per 1.0 increase, 1.51; 95% CI, 1.21–1.88). However, other atherogenic indices did not show significant associations with composite kidney outcome. Adding AIP to the traditional risk model to predict composite kidney outcomes significantly improved the C-index, net reclassification index, and integrated discrimination improvement. The association between high AIP and an increased risk of composite kidney outcome was consistent regardless of subgroup. Conclusion: High AIP was associated with an increased risk of CKD in adults with metabolic derangements.
4.Predictive models for posttransplant diabetes mellitus in kidney transplant recipients using machine learning and deep learning approach: a nationwide cohort study from South Korea
Seoyoung CHOI ; Mi Ryung PYO ; Sangwoong KIM ; Jong Cheol JEONG ; Yu Ho LEE ; Hyejin MO ; Jeong-Hoon LEE ; Jaeseok YANG ; Myoung Soo KIM ; Hye Eun YOON ; Sejoong KIM ;
Kidney Research and Clinical Practice 2025;44(6):984-995
Background:
Posttransplant diabetes mellitus (PTDM) complicates kidney transplant recipients (KTRs) in morbidity and mortality. This study aimed to predict PTDM risk in KTRs using machine learning and deep learning models.
Methods:
Data were obtained from the Korea Organ Transplantation Registry, a nationwide cohort study of KTRs. Four machine learning algorithms, including eXtreme Gradient Boosting (XGBoost), CatBoost, light gradient boosting machine and logistic regression, and deep learning were implemented on 41 pretransplant and 31 posttransplant variables to predict PTDM. Model performance was assessed using the area under the curve (AUC) of the receiver operating characteristic curve, accuracy, precision, recall, and F1 score.
Results:
Among 3,213 KTRs, 497 patients (15.5%) developed PTDM within 1 year. The PTDM group had higher age, body mass index (BMI), triglyceride level, and prevalence of hypertension and cardiovascular disease, and lower total cholesterol level at baseline than the No-PTDM group. The XGBoost model showed the highest AUC (0.738) and F1 score (0.42), and modest accuracy (0.86), while the CatBoost model exhibited the highest accuracy (0.87) and precision (0.79). Feature importance in XGBoost was highest for recipient age, followed by baseline BMI, triglyceride level at posttransplant 6 months, baseline glycated hemoglobin and high-density lipoprotein cholesterol level, white blood cell (WBC) count and serum uric acid level at 6 months, baseline WBC count, and tacrolimus trough level at discharge.
Conclusion
The XGBoost model demonstrated the best performance for predicting PTDM within 1 year, offering an accurate tool for early identification and personalized care of high-risk KTRs for PTDM.
5.Food-related media use and eating behavior in different food-related lifestyle groups of Korean adolescents in metropolitan areas
SooBin LEE ; Seoyoung CHOI ; Se Eun AHN ; Yoon Jung PARK ; Ji-Yun HWANG ; Gaeun YEO ; Jieun OH
Nutrition Research and Practice 2024;18(5):687-700
BACKGROUND/OBJECTIVES:
This study investigated the relationship between adolescent food-related lifestyles and food-related media use and eating behavior in Korea.
SUBJECTS/METHODS:
Participants were 392 Korean adolescents, ranging in age from 12 to 18, recruited via convenience sampling. They completed a self-report questionnaire survey consisting of questions about food-related lifestyle, food-related media use, food consumption behavior, food literacy, and nutrition quotient. Data analysis was conducted using SPSS 29.0. (IBM Co., Armonk, NY, USA).
RESULTS:
The factor analysis of food-related lifestyles identified four factors. Based on the cluster analysis results, participants were classified into three clusters reflecting different levels of interest: high interest in food, moderate interest in food, and low interest in food. The analysis revealed significant differences between groups in food-related liestyle factors (P < 0.05). Notably, the high-interest group demonstrated proactive engagement with food-related content, a willingness to explore diverse culinary experiences, and a conscientious consideration of nutritional labeling during food purchases. In contrast, the low-interest group reported tendencies toward overeating or succumbing to stimulating food consumption post-exposure to food-related content, coupled with a disregard for nutritional labeling when making food choices. A stronger inclination toward a food-related lifestyle was positively correlated with higher levels of food literacy and nutrition quotient.
CONCLUSION
This study proposes that the implementation of a nutrition education program using media could effectively promote a healthy diet among adolescents with a high level of interest in their dietary habits. For adolescents with low interest in their dietary habits, it suggests that introducing an education program with a primary focus on enhancing food literacy could be beneficial in fostering a healthy diet. Our research findings provide insight for the development of tailored nutritional education programs and establishment of effective nutrition policies.
6.Cerebral toxoplasmosis in a patient with Good’s syndrome: A case report and literature review
Seoyoung CHOI ; Mi Jung KWON ; Eun Soo KIM ; Heui Seung LEE ; Younghee JUNG ; Joo-Hee KIM ; Seung Hun JANG
Allergy, Asthma & Respiratory Disease 2024;12(3):155-159
Good’s syndrome is a rare cause of combined B- and T-cell immunodeficiency in adults with a history of thymectomy. The patients with Good’s syndrome are susceptible to encapsulated bacterial infections and opportunistic viral/fungal infections. We report a 63-year-old female patient who was diagnosed with cerebral toxoplasmosis in the middle of monthly immunoglobulin treatment for Good’s syndrome. She was referred owing to progressive dizziness for one week without any neurologic deficits. Although routine laboratory tests and toxoplasma serology exams were within the normal range, brain image studies suggested cerebral toxoplasmosis, which was confirmed by pathology of brain lesions. She was treated with pyrimethamine and sulfadiazine as well as with systemic corticosteroids, and improved without sequelae. Later, her medication was switched to trimethoprim/sulfamethoxazole as a second-line treatment due to sulfadiazine-related neuropathy.
7.ARID1A Mutation from Targeted Next-Generation Sequencing Predicts Primary Resistance to Gemcitabine and Cisplatin Chemotherapy in Advanced Biliary Tract Cancer
Sung Hwan LEE ; Jaekyung CHEON ; Seoyoung LEE ; Beodeul KANG ; Chan KIM ; Hyo Sup SHIM ; Young Nyun PARK ; Sanghoon JUNG ; Sung Hoon CHOI ; Hye Jin CHOI ; Choong-kun LEE ; Hong Jae CHON
Cancer Research and Treatment 2023;55(4):1291-1302
Purpose:
There are clinical unmet needs in predicting therapeutic response and precise strategy for the patient with advanced biliary tract cancer (BTC). We aimed to identify genomic alterations predicting therapeutic response and resistance to gemcitabine and cisplatin (Gem/Cis)-based chemotherapy in advanced BTC.
Materials and Methods:
Genomic analysis of advanced BTC multi-institutional cohorts was performed using targeted panel sequencing. Genomic alterations were analyzed integrating patients’ clinicopathologic data, including clinical outcomes of Gem/Cis-based therapy. Significance of genetic alterations was validated using clinical next-generation sequencing (NGS) cohorts from public repositories and drug sensitivity data from cancer cell lines.
Results:
193 BTC patients from three cancer centers were analyzed. Most frequent genomic alterations were TP53 (55.5%), KRAS (22.8%), ARID1A (10.4%) alterations, and ERBB2 amplification (9.8%). Among 177 patients with BTC receiving Gem/Cis-based chemotherapy, ARID1A alteration was the only independent predictive molecular marker of primary resistance showing disease progression for 1st-line chemotherapy in the multivariate regression model (odds ratio, 3.12; p=0.046). In addition, ARID1A alteration was significantly correlated with inferior progression-free survival on Gem/Cis-based chemotherapy in the overall patient population (p=0.033) and in patients with extrahepatic cholangiocarcinoma (CCA) (p=0.041). External validation using public repository NGS revealed that ARID1A mutation was a significant predictor for poor survival in BTC patients. Investigation of multi-OMICs drug sensitivity data from cancer cell lines revealed that cisplatin-resistance was exclusively observed in ARID1A mutant bile duct cancer cells.
Conclusion
Integrative analysis with genomic alterations and clinical outcomes of the first-line Gem/Cis-based chemotherapy in advanced BTC revealed that patients with ARID1Aalterations showed a significant worse clinical outcome, especially in extrahepatic CCA. Well-designed prospective studies are mandatory to validate the predictive role of ARID1Amutation.
8.National Follow-up Survey of Preventable Trauma Death Rate in Korea
Junsik KWON ; Myeonggyun LEE ; Jonghwan MOON ; Yo HUH ; Seoyoung SONG ; Sora KIM ; Seung Joon LEE ; Borami LIM ; Hyo Jin KIM ; Yoon KIM ; Hyung il KIM ; Jung-Ho YUN ; Byungchul YU ; Gil Jae LEE ; Jae Hun KIM ; Oh Hyun KIM ; Wook Jin CHOI ; Myungjae JUNG ; Kyoungwon JUNG
Journal of Korean Medical Science 2022;37(50):e349-
Background:
The preventable trauma death rate survey is a basic tool for the quality management of trauma treatment because it is a method that can intuitively evaluate the level of national trauma treatment. We conducted this study as a national biennial follow-up survey project and report the results of the review of the 2019 trauma death data in Korea.
Methods:
From January 1, 2019 to December 31, 2019, of a total of 8,482 trauma deaths throughout the country, 1,692 were sampled from 279 emergency medical institutions in Korea. All cases were evaluated for preventability of death and opportunities for improvement using a multidisciplinary panel review approach.
Results:
The preventable trauma death rate was estimated to be 15.7%. Of these, 3.1% were judged definitive preventable deaths, and 12.7% were potentially preventable deaths. The odds ratio for preventable traumatic death was 2.56 times higher in transferred patients compared to that of patients who visited the final hospital directly. The group that died 1 hour after the accident had a statistically significantly higher probability of preventable death than that of the group that died within 1 hour after the accident.
Conclusion
The preventable trauma death rate for trauma deaths in 2019 was 15.7%, which was 4.2%p lower than that in 2017. To improve the quality of trauma treatment, the transfer of severe trauma patients to trauma centers should be more focused.
9.Increased Risk of Psychopathological Abnormalities in Subjects With Unilateral Hearing Loss: A Cross-Sectional Study
Jae-Jin SONG ; Eu Jeong KU ; Seoyoung KIM ; Euitae KIM ; Young-Seok CHOI ; Hahn Jin JUNG
Clinical and Experimental Otorhinolaryngology 2021;14(1):82-87
Objectives:
. Although unilateral hearing loss (UHL) has been proven to be associated with educational and behavioral problems, few studies have investigated psychopathological abnormalities in this population. The aim of this study was to evaluate the psychopathological influence of UHL among Korean 19-year-old males.
Methods:
. The authors retrospectively compared the objective personality test profiles of 602 subjects with UHL with those of 23,790 peers with normal hearing. All participants in the current study were 19-year-old males who underwent a physical examination and completed the Korean Military Multiphasic Personality Inventory for conscription at the Military Manpower Administration from February 2015 to December 2016.
Results:
. Significantly higher scores were found on neurosis scales in the UHL group than in the normal-hearing group (50.9± 10.8 vs. 44.9±6.0 for anxiety; 51.0±10.5 vs. 44.9±5.2 for depression; 51.1±10.4 vs. 45.1±6.81 for somatization, all P<0.001). The psychopathy scales were also significantly higher in the UHL group than in the normal-hearing group (49.3±9.4 vs. 46.3±5.7 for schizophrenia; 51.1±11.2 vs. 44.3±5.8 for personality disorders; 51.1±10.5 vs. 45.7±3.7 for paranoia, all P<0.001).
Conclusion
. Nineteen-year-old males with UHL tended to have more abnormal results on personality tests than controls with normal hearing, suggesting that UHL may be related with a higher risk of psychopathology.
10.Psidium guajava L. leaf extract inhibits adipocyte differentiation and improves insulin sensitivity in 3T3-L1 cells
Esther CHOI ; Seoyoung BAEK ; Kuanglim BAEK ; Hye-Kyeong KIM
Nutrition Research and Practice 2021;15(5):568-578
BACKGROUND/OBJECTIVES:
Psidium guajava L. (guava) leaves have been shown to exhibit hypoglycemic and antidiabetic effects in rodents. This study investigated the effects of guava leaf extract on adipogenesis, glucose uptake, and lipolysis of adipocytes to examine whether the antidiabetic properties are mediated through direct effects on adipocytes.MATERIALS/METHODS: 3T3-L1 cells were treated with 25, 50, 100 µg/mL of methanol extract from guava leaf extract (GLE) or 0.1% dimethyl sulfoxide as a control. Lipid accumulation was evaluated with Oil Red O Staining and AdipoRed assay. Immunoblotting was performed to measure the expression of adipogenic transcription factors, fatty acid synthase (FAS), and AMP-activated protein kinase (AMPK). Glucose uptake under basal or insulin-stimulated condition was measured using a glucose analog 2-[N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl) amino]-2-deoxy-D-glucose. Lipolysis from fully differentiated adipocytes was measured by free fatty acids release into the culture medium in the presence or absence of epinephrine.
RESULTS:
Oil Red O staining and AdipoRed assay have shown that GLE treatment reduced lipid accumulation during adipocyte differentiation. Mitotic clonal expansion, an early essential event for adipocyte differentiation, was inhibited by GLE treatment. GLE inhibited the expression of transcription factors involved in adipocyte differentiation, such as peroxisome proliferator-activated receptor γ (PPARγ), CCAAT/enhancer-binding protein α (C/EBPα), and sterol regulatory element-binding protein-1c (SREBP-1c). FAS expression was also decreased while the phosphorylation of AMPK was increased by GLE treatment. In addition, GLE increased insulin-induced glucose uptake into adipocytes. In lipid-filled mature adipocytes, GLE enhanced epinephrine-induced lipolysis but reduced basal lipolysis dose-dependently.
CONCLUSIONS
The results show that GLE inhibits adipogenesis and improves adipocyte function by reducing basal lipolysis and increasing insulin-stimulated glucose uptake in adipocytes, which can be partly associated with antidiabetic effects of guava leaves.

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