1.Primary Orbital Apocrine Adenocarcinoma: A Rare Case Concomitant with Gastric Adenocarcinoma
Sung Eun IM ; Joo Yeon KIM ; Soo Jung LEE
Journal of the Korean Ophthalmological Society 2026;67(1):23-27
Purpose:
To report a case of primary orbital apocrine adenocarcinoma in a patient diagnosed with gastric adenocarcinoma.Case summary: A 43-year-old male patient diagnosed with gastric adenocarcinoma 3 months prior presented with a gradually enlarging mass in the lower medial aspect of the left eye for 1 year. At initial examination, his best-corrected visual acuity was 1.0 in both eyes and slit-lamp examination revealed no abnormalities. The left eye exhibited proptosis with restricted adduction, abduction, and depression. Orbital magnetic resonance imaging revealed an irregularly shaped mass measuring 56 × 46 × 38 mm in the left inferomedial orbit, invading the medial and inferior rectus muscles. Histopathological analysis of the orbital tumor revealed abundant eosinophilic cytoplasm. Immunohistochemical staining was positive for androgen receptor, and gross cystic disease fluid protein-15, both of which were negative in the gastric adenocarcinoma tissue. Additionally, the mucin phenotypes observed differed from those in the gastric cancer tissue. Based on these findings, the patient was diagnosed with primary orbital apocrine adenocarcinoma.
Conclusions
Primary orbital apocrine adenocarcinoma is an extremely rare malignant tumor. In patients with gastric cancer, malignant tumors in the orbit can arise as either primary neoplasms or metastatic lesions. Therefore, accurate diagnosis through immunohistochemical staining is essential to determine the appropriate treatment approach.
2.Current Clinical Perspectives on Rosacea Management: Insights From a Korean Multicenter Expert Opinion Survey
Bo Ri KIM ; Sejin OH ; Ju Hee HAN ; Jimyung SEO ; Hyun-Min SEO ; Soon-Hyo KWON ; Hoon CHOI ; Jung U SHIN ; Jae We CHO ; Boncheol Leo GOO ; Jung-Im NA ; Dong Hun LEE ; Chun Pill CHOI ; HaeWoong LEE ; Joo Yeon KO ; Hwa Jung RYU ; Nark-Kyoung RHO ; Hyunjo KIM ; Ga-Young LEE ; Jong Hee LEE ; Nala SHIN ; Sang Ju LEE ; Suk Bae SEO ; Geun Soo LEE ; Hei Sung KIM ; Chang-Hun HUH
Annals of Dermatology 2026;38(1):42-50
Background:
Rosacea is a chronic inflammatory skin disorder characterized by erythema, papules, ocular symptoms, and heightened sensitivity. Patients with neurogenic symptoms such as burning or stinging remain particularly difficult to manage. Current guidelines often underrepresent energy-based devices (EBDs), pigmentary sequelae, psychosocial burden, and ocular comorbidities.
Objective:
To examine Korean dermatologists’ expert perspectives on rosacea management, focusing on skin sensitivity, neurogenic symptoms, pigmentary changes, psychosocial impact, ocular involvement, and EBD use.
Methods:
A web-based, 29-item survey was administered to 25 board-certified Korean dermatologists (May–June 2025). Quantitative and qualitative responses were analyzed.
Results:
Erythematotelangiectatic and papulopustular phenotypes with sensitivity skin predominated. EBDs (pulsed dye laser, intense pulsed light) were frequently used but limited by cost and sensitivity issues. Neurogenic symptoms were recognized but rarely treated with neuromodulators. Post-inflammatory hyperpigmentation was infrequent, yet monitoring was inconsistent.Psychosocial and ocular aspects were acknowledged but seldomly systematically addressed.Respondents expressed interest in emerging adjunctive treatments such as cold plasma, skin boosters, and holistic care approaches.
Conclusion
Korean dermatologists adopt individualized strategies for rosacea, yet practice gaps remain regarding neurogenic symptoms, pigmentary complications, and psychosocial and ocular comorbidities. Findings support the need for updated multidisciplinary, phenotype-driven guidelines aligned with real-world practice.
3.High-Resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-Level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul KIM ; Jee-Soo LEE ; Boram KIM ; Man Jin KIM ; Sung Im CHO ; Seung Won CHAE ; Ho Seob SHIN ; Hoyeon LEE ; Ji Yeon KIM ; Moon-Woo SEONG
Annals of Laboratory Medicine 2026;46(2):190-199
Background:
Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes.
Methods:
We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions.
Results:
For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools.
Conclusions
The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.
4.Associations of Body Mass Index and Waist Circumference With Falls Among Community-dwelling Older Adults in Korea
Seonho KIM ; Jeong-Soo IM ; Beomman HA
Journal of Preventive Medicine and Public Health 2026;59(3):328-336
Objectives:
This study aimed to investigate the association between obesity and falls among community-dwelling older adults in Korea and to assess whether body mass index (BMI) or waist circumference (WC) more accurately predicts fall risk.
Methods:
This study included 4378 community-dwelling older adults aged ≥65 years from the seventh Korea National Health and Nutrition Examination Survey (2016–2018). Complex-sample logistic regression analyses were conducted to examine the associations between general and central obesity and falls, stratified by sex and age group. Predictive accuracy was evaluated using Harrell’s C-index, and differences between WC and BMI were assessed using the ΔC-index and the DeLong test.
Results:
BMI-defined general obesity was not significantly associated with falls. In contrast, WC-defined central obesity was significantly associated with falls among older adults overall (adjusted odds ratio, 1.82; 95% confidence interval, 1.20 to 2.76). In sex-stratified analyses, central obesity remained significantly associated with falls in both males and females. Age-stratified analyses showed a significant association between central obesity and falls among adults aged 65–74 years, but not among those aged ≥75 years. WC demonstrated a modest but statistically significant improvement in predictive ability compared with BMI (ΔC-index=0.047, p=0.044), although subgroup differences were not statistically significant.
Conclusions
Central obesity, but not general obesity defined by BMI, was significantly associated with falls among community-dwelling older Korean adults. WC showed slightly better predictive performance than BMI. These findings suggest that WC may be a more appropriate indicator than BMI for identifying older adults at increased risk of falls.
5.DNA Damage and Nuclear Anaplasia Induced by Trastuzumab Deruxtecan in Cancer Cells with Variable HER2 Expression and Homologous Recombination Deficiency Status
So Hyeon KIM ; Yoonjung PARK ; Ahrum MIN ; Hye Yeon PARK ; Yu-Jin KIM ; Sujin HAM ; Jiwon KOH ; Seongyeong KIM ; Dae-Won LEE ; Han Suk RYU ; Jin-Soo KIM ; Kyung-Hun LEE ; Seock-Ah IM
Cancer Research and Treatment 2026;58(2):407-422
Purpose:
Human epidermal growth factor receptor 2 (HER2) is amplified or overexpressed in various malignancies, including breast and gastric cancers, and is associated with poor prognosis. Although HER2-targeted therapies, such as trastuzumab, improve outcomes in HER2-positive tumors, resistance often develops, and HER2-low tumors remain largely untargeted. Trastuzumab deruxtecan (T-DXd; DS-8201a) is a HER2-targeted antibody-drug conjugate with potent activity in HER2-positive and HER2-low tumors. This study evaluates its antitumor mechanisms and efficacy in HER2-positive, HER2-low, and homologous recombination deficiency (HRD)–associated models.
Materials and Methods:
Effects of T-DXd were assessed in cancer cell lines with diverse HER2 expression and HRD status. In vivo efficacy was evaluated using a xenograft model derived from HER2-low SNU-601 gastric cancer cells.
Results:
T-DXd reduced HER2 phosphorylation and downstream signaling (AKT, ERK) in HER2-positive cells. It induced DNA damage accumulation, as evidenced by increased γH2AX and p-Chk1 expression, and triggered apoptosis through cleaved poly(ADP-ribose) polymerase and caspase-3 activation, confirmed by annexin V staining. Similar effects were observed in HER2-low cells, with greater sensitivity in HRD cells. In xenografts, T-DXd reduced tumor volume by up to 80% at 4 mg/kg and 10 mg/kg. Histological analyses showed decreased Ki-67 and increased apoptosis. Furthermore, T-DXd induced G2/M cell cycle arrest and nuclear anaplasia, suggesting disruption of chromosomal stability as a potential antitumor mechanism. No significant toxicity, including body weight loss, was observed.
Conclusion
These findings highlight T-DXd’s effectiveness in HER2-low and HRD tumors, supporting its broader clinical application, including strategies targeting DNA damage repair pathways.
6.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.
7.Predicting Mortality and Cirrhosis-Related Complications with MELD3.0: A Multicenter Cohort Analysis
Jihye LIM ; Ji Hoon KIM ; Ahlim LEE ; Ji Won HAN ; Soon Kyu LEE ; Hyun YANG ; Heechul NAM ; Hae Lim LEE ; Do Seon SONG ; Sung Won LEE ; Hee Yeon KIM ; Jung Hyun KWON ; Chang Wook KIM ; U Im CHANG ; Soon Woo NAM ; Seok-Hwan KIM ; Pil Soo SUNG ; Jeong Won JANG ; Si Hyun BAE ; Jong Young CHOI ; Seung Kew YOON ; Myeong Jun SONG
Gut and Liver 2025;19(3):427-437
Background/Aims:
This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score.
Methods:
We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score.
Results:
A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites.
Conclusions
The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.
8.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
9.The Cancer Clinical Library Database (CCLD) from the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) Project
Sangwon LEE ; Yeon Ho CHOI ; Hak Min KIM ; Min Ah HONG ; Phillip PARK ; In Hae KWAK ; Ye Ji KANG ; Kui Son CHOI ; Hyun-Joo KONG ; Hyosung CHA ; Hyun-Jin KIM ; Kwang Sun RYU ; Young Sang JEON ; Hwanhee KIM ; Jip Min JUNG ; Jeong-Soo IM ; Heejung CHAE
Cancer Research and Treatment 2025;57(1):19-27
The common data model (CDM) has found widespread application in healthcare studies, but its utilization in cancer research has been limited. This article describes the development and implementation strategy for Cancer Clinical Library Databases (CCLDs), which are standardized cancer-specific databases established under the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) project by the Korean Ministry of Health and Welfare. Fifteen leading hospitals and fourteen academic associations in Korea are engaged in constructing CCLDs for 10 primary cancer types. For each cancer type-specific CCLD, cancer data experts determine key clinical data items essential for cancer research, standardize these items across cancer types, and create a standardized schema. Comprehensive clinical records covering diagnosis, treatment, and outcomes, with annual updates, are collected for each cancer patient in the target population, and quality control is based on six-sigma standards. To protect patient privacy, CCLDs follow stringent data security guidelines by pseudonymizing personal identification information and operating within a closed analysis environment. Researchers can apply for access to CCLD data through the K-CURE portal, which is subject to Institutional Review Board and Data Review Board approval. The CCLD is considered a pioneering standardized cancer-specific database, significantly representing Korea’s cancer data. It is expected to overcome limitations of previous CDMs and provide a valuable resource for multicenter cancer research in Korea.
10.Predicting Mortality and Cirrhosis-Related Complications with MELD3.0: A Multicenter Cohort Analysis
Jihye LIM ; Ji Hoon KIM ; Ahlim LEE ; Ji Won HAN ; Soon Kyu LEE ; Hyun YANG ; Heechul NAM ; Hae Lim LEE ; Do Seon SONG ; Sung Won LEE ; Hee Yeon KIM ; Jung Hyun KWON ; Chang Wook KIM ; U Im CHANG ; Soon Woo NAM ; Seok-Hwan KIM ; Pil Soo SUNG ; Jeong Won JANG ; Si Hyun BAE ; Jong Young CHOI ; Seung Kew YOON ; Myeong Jun SONG
Gut and Liver 2025;19(3):427-437
Background/Aims:
This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score.
Methods:
We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score.
Results:
A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites.
Conclusions
The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.

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