1.Transformation of Pleomorphic Xanthoastrocytoma with Germline ATM Mutation into a SMARCB1-Deficient Rhabdoid Tumor: A Case Report
Hyeonseung LEE ; Hyun Jin PARK ; Bo Kyung KIM ; Kyung Taek HONG ; Hyoung Jin KANG ; Sung-Hye PARK ; Ji Hoon PHI ; June-Young KOH ; Jung Yoon CHOI
Clinical Pediatric Hematology-Oncology 2026;33(1):34-38
Secondary rhabdoid tumors (RTs) with atypical teratoid/rhabdoid tumor-like features rarely arise from, or coexist with, pleomorphic xanthoastrocytomas (PXAs), and their clinicopathological and molecular characteristics remain poorly understood. We report a 17-year-old girl with a temporal lobe mass that, upon gross total resection, pathologically contained both RT and PXA components. Immunohistochemistry revealed loss of INI1 expression restricted to the RT component, while the PXA area retained INI1. Next-generation sequencing identified a shared BRAF::TRIM24 fusion and homozygous deletion of CDKN2A/2B in both components, indicating a shared clonal origin. Additionally, a germline ATM frameshift mutation (c.5288_5289insGA) was identified in both tumor components, making the first such report in central nervous system tumors. SMARCB1 loss was confined to the RT component, further supporting the hypotheses of clonal evolution and secondary transformation. Despite gross total resection, craniospinal irradiation, and chemotherapy, the patient developed rapid leptomeningeal dissemination and died 5 months after surgery. This case provides clinicopathological and molecular evidence for clonal evolution and secondary transformation of PXA into an RT. The presence of germline ATM mutation may have therapeutic and biological relevance. Further studies are required to clarify the pathogenesis and optimal management of these rare and aggressive tumors.
2.AI-driven Medical Care: Evaluation of Large Language Models in Generating Personalized Stroke Education Materials
Surim YOON ; Woo-Keun SEO ; Kyungseo KIM ; Seongvin JU ; Hyun Kyung KIM ; Hyung Jun KIM ; Jong-Won CHUNG ; Oh Young BANG ; Gyeong-Moon KIM ; Eun Young LEE ; Youngrak CHOI ; Soyoung YOO
Healthcare Informatics Research 2026;32(2):179-189
Objectives:
Large language models (LLMs) demonstrate remarkable potential in healthcare communication. However, whether they can process complex, high-volume medical information, such as stroke-related content, remains insufficiently validated. This study aimed to evaluate the natural language processing capabilities of LLMs in handling such content and to develop an evaluation instrument.
Methods:
A survey compared educational materials generated by two LLMs (ChatGPT 4.0 and Claude 3) with neurologist-authored content on stroke. The materials were based on two clinical scenarios representing distinct stroke etiologies: cardioembolism and large-artery atherosclerosis. They were evaluated in terms of accuracy, legality, ethics, comprehensiveness, and information delivery. Scores for comprehensiveness and information delivery were compared according to participants’ agreement with the use of LLMs in healthcare.
Results:
ChatGPT received the highest scores across all domains, except for legality in Scenario 2. In Scenario 1, the ranking for accuracy and summarization of clinical information was, from highest to lowest, ChatGPT, Claude, and the neurologist (η2 = 0.140, p < 0.001; η2 = 0.175, p < 0.001). The same hierarchy was observed in Scenario 2 for accuracy (η2 = 0.077, p < 0.001) and summarization (η2 = 0.194, p < 0.001). Participants who agreed with the use of LLMs in healthcare assigned higher scores for the comprehensiveness (Scenario 1, p = 0.005; Scenario 2, p = 0.007) and information delivery (Scenario 1, p = 0.003; Scenario 2, p = 0.026) of ChatGPT-generated materials than participants who did not agree.
Conclusions
LLMs demonstrated adequate capability to convey complex content, such as stroke-related information, in an accessible and understandable manner for non-experts.
3.Prevalence of HER2-ultralow breast cancer in South Korea: a multicenter study by reassessment of HER2-zero cases
Min Chong KIM ; Eun Yoon CHO ; Hee Jin LEE ; Ji Shin LEE ; Jee Yeon KIM ; Wan Seop KIM ; Chungyeul KIM ; Sun-Young JUN ; Hye Jeong CHOI ; So Mang LEE ; Ahrong KIM ; Ji-Young KIM ; Jeong Yun SHIM ; Gyungyub GONG ; Young Kyung BAE
Journal of Pathology and Translational Medicine 2026;60(2):184-192
This study aimed to determine the prevalence of human epidermal growth factor receptor 2 (HER2)–ultralow breast cancer among cases initially classified as HER2 immunohistochemistry (IHC) 0 and assess interobserver variability in interpreting low-level HER2 expression. Methods: In this multicenter retrospective study, all invasive breast cancer cases diagnosed between January and December 2022 across 10 Korean institutions were retrieved. Institutional pathologists reexamined HER2 IHC slides originally reported as IHC 0 according to the 2018 American Society of Clinical Oncology/College of American Pathologists guidelines and reclassified them as HER2-null (0), HER2-ultralow (0+), or HER2-low (1+). Slides from 10% of HER2-null and HER2-ultralow cases were digitized for central review and independently assessed by two pathologists, with discrepancies resolved by consensus. Results: Among 8,026 cases, 2,836 cases (35.5%) were initially reported as IHC 0. Upon re-review, 1,673 (59.0%), 1,139 (40.2%), and 24 (0.8%) cases were reclassified as HER2-null, HER2-ultralow, and HER2-low, respectively. The prevalence of HER2-ultralow breast cancer varied considerably across institutions (23.7%–78.1%). Central review of 268 digitized cases showed concordance in 193 cases (72.0%). Among the 75 discordant cases, 54 tumors (72.0%) were upgraded from HER2-null to HER2-ultralow, and 18 (24.0%) tumors were upgraded from HER2-ultralow to HER2-low. Furthermore, two tumors (2.7%) were downgraded from HER2-ultralow to HER2-null. Conclusions: Approximately 40% of cases initially categorized as IHC 0 were reclassified as HER2-ultralow. The substantial inter-institutional variability observed in interpreting low-level HER2 expression highlights the need for standardized training and quality assurance to ensure accurate identification of patients eligible for HER2-targeted antibody–drug conjugates.
4.Age Estimation Using Convolutional Neural Networks with Lumbar and Thoracic Spine Images from Postmortem Computed Tomography: A Pilot Study
Ju-Heon LEE ; Jin-Woo KIM ; Kyung-Ryoul KIM ; In-Soo SEO ; Nak-Won LEE ; Chang-Un CHOI ; Hye-Jeong KIM ; Byung-Yoon ROH
Korean Journal of Legal Medicine 2026;50(1):1-8
In forensic medicine, age estimation commonly involves assessing age-related changes in teeth and skeletal structures. Vertebral morphological alterations, such as osteophyte formation, serve as age indicators. Recent studies using deep-learning techniques, such as neural networks, for age estimation from radiographic images have been conducted, reporting significantly higher accuracy than previous studies. This study aimed to estimate age using neural network-based deep-learning techniques applied to computed tomography (CT) cross-sectional images of the spine and evaluate its feasibility. Postmortem CT scans of 214 cadavers with varying decomposition levels were used. Coronal and sagittal cross-sectional images penetrating the center of each vertebral body were extracted for the 11th and 12th thoracic vertebrae and the first to fifth lumbar vertebrae. Using these images, along with the chronological ages of deceased individuals, an age estimation model was developed through regression analysis in PyTorch, employing a convolutional neural networks architecture with five-fold cross-validation. The model achieved a mean absolute error of 5.385 years, root mean squared error of 7.029 years, and coefficient of determination of 0.793. Although the sample size was relatively small, the results suggested the potential applicability of vertebral imagingbased age estimation in the Korean population. Further research using a larger dataset may improve the accuracy and reliability of the model.
5.Screening Outcomes of Supplemental Automated Breast Ultrasound in Women With Nondense Breasts Undergoing Mammography
Mi-ri KWON ; Mi Yeon LEE ; Suhyeon MOON ; Eun Sook KO ; Eun Young KO ; Boo Kyung HAN ; Inyoung YOUN ; Yoon Jung CHOI ; Shin Ho KOOK ; Jai Min RYU ; Ji Soo CHOI
Korean Journal of Radiology 2026;27(1):14-26
Objective:
To evaluate the performance of supplemental automated breast ultrasound (ABUS) added to mammography-based breast cancer screening for women with nondense breasts.
Materials and Methods:
A retrospective search of radiology databases at two tertiary institutions identified asymptomatic women with nondense breasts who underwent breast cancer screening using both digital mammography (DM) and supplemental ABUS between January 2020 and December 2023. We excluded women without sufficient follow-up data or those without an established final diagnosis, including histopathologic results. The performance measures of DM alone and ABUS combined with DM (ABUS plus DM) were compared. The primary outcome was the cancer detection rate (CDR), and the secondary outcomes were sensitivity and specificity. Subgroup analyses were performed for women with scattered fibroglandular density and almost entirely fatty breasts.
Results:
A total of 2,904 pairs of screening examinations were performed in 1,683 women (59 ± 10 years), detecting 26 cancers. In comparison with DM alone, ABUS plus DM showed higher CDR (9.0 vs. 7.9 per 1,000 examinations, P < 0.001), higher sensitivity (100% [26/26] vs. 88.5% [23/26], P < 0.001), and lower specificity (95.0% [2,735/2,878] vs. 97.9% [2,817/2,878], P < 0.001). In women with scattered fibroglandular density, ABUS increased the CDR from 7.4 to 8.5 per 1,000 examinations and improved the sensitivity from 87.0% [20/23] to 100% [23/23] (P < 0.001). In women with almost entirely fatty breasts, ABUS plus DM showed the same CDR (16.4 per 1,000 examinations) and sensitivity (100% [3/3]) as DM alone. Three cancers (11.5% [3/26]), all of which were stage T1N0, were detected only by supplemental ABUS.
Conclusion
Supplemental ABUS improved cancer detection and sensitivity in women with nondense breasts, with the benefits primarily observed in those with scattered fibroglandular density.
6.Anticancer Treatment Influences TREM2 in Tumor-Associated Macrophages in Lung Cancer
Yoon Jin CHA ; Eun Hye LEE ; Chi Young KIM ; Yong Jun CHOI ; Min Kyung PARK ; Sang Hoon LEE ; Eun Young KIM ; Yoon Soo CHANG
Cancer Research and Treatment 2026;58(2):465-480
Purpose:
The triggering receptor expressed on myeloid cells 2 (TREM2) creates an immunosuppressive environment, but the effects of anticancer treatment on TREM2 and the tumor microenvironment (TME) are not well established. This study investigates the impact of chemotherapy on TREM2-expressing macrophages within the lung adenocarcinoma TME.
Materials and Methods:
Using single-cell RNA sequencing datasets of paired normal-appearing lung tissue (NL) and tumor (Tu), human and mouse lung cancer tissue, and THP-1 cells, we observed the effects of anticancer drugs on them.
Results:
Myeloid cells (MY) were the second-most abundant non-epithelial component in the Tu, though less prevalent than in NL. Specific MY subclusters abundant in Tu showed overexpression of TREM2. In lung cancer-induced Kras-G12D mice, M2 proportion increased in Tu compared to NL; cisplatin increased TREM2+ M2 proportion in Tu. TREM2+ cells in Tu showed interactions with cell clusters showing characteristics of interstitial macrophage such as mo-lineage, mono-Mc, and CD163/LGMN cells via FN:CD44 and MIF:CD74+CXCR4, suggesting that they influence the recruitment of those cells to Tu and TME reshape. In M0-state THP-1 cells, cisplatin and osimertinib treatments induced polarization towards M1 and M2 states and increased TREM2 expression. Cisplatin promoted uptake of phosphatidylserine-coated latex beads by M0 cells, whereas osimertinib reduced uptake by polarized macrophages. These findings suggest anticancer treatments impact the lung immune microenvironment by altering the TREM2+ cells.
Conclusion
Given TREM2’s central inhibitory role in the tumor immune environment, effects of chemotherapeutic agents should be considered in developing TREM2-targeting therapies.
7.Survival Rates of Patients with Gastric Cancer According to Age and Sex: A Large-Scale Study Using Data from 14,739 Patients
Yonghoon CHOI ; Nayoung KIM ; Ji Hyun KIM ; Hyeong Ho JO ; Hyeon Jeong OH ; Hye Seung LEE ; Yu Kyung JUN ; Hyuk YOON ; Cheol Min SHIN ; Young Soo PARK ; Dong Ho LEE ; So Hyun KANG ; Young Suk PARK ; Sang-Hoon AHN ; Yun-Suhk SUH ; Do Joong PARK ; Hyung Ho KIM ; Ji-Won KIM ; Jin Won KIM ; Keun-Wook LEE ; Won CHANG ; Yoon Jin LEE ; Kyoung Ho LEE ; Young Hoon KIM
Cancer Research and Treatment 2026;58(1):252-263
Purpose:
The male predominance in the incidence of gastric cancer (GC) is established; however, sex differences in the prognosis of GC remain controversial. As such, this study analyzed the prognosis of patients with GC based on age and sex.
Materials and Methods:
Data from 14,739 patients diagnosed with GC at Seoul National University Bundang Hospital between 2003 and 2023 were analyzed. Baseline characteristics, histological types of GC, overall and GC-specific survival rates (age and stage stratification), and associated risk factors were analyzed.
Results:
Females were significantly younger (p < 0.001) and exhibited more gastric body cancers (p < 0.001) and tumors with diffuse-type or poorly differentiated histology (p < 0.001) than males. Females exhibited an advantage over males in terms of overall survival (p=0.004), but not in GC-specific survival. However, age stratification revealed significant sex differences, that females < 50 years of age exhibited survival disadvantages (p < 0.001); however, this trend was reversed with age, and females > 60 years exhibited survival advantages (p < 0.001) for both overall and GC-specific survival. This may be explained by the lower ratio of diffuse-type GC as females age. Furthermore, in the analysis according to stage, females with stage IV disease exhibited significant survival disadvantages, with significantly younger age and a higher proportion of diffuse-type GC which exhibits aggressive features, resulting in poorer survival than in males.
Conclusion
Age and stage stratification revealed significant differences in survival between the sexes, which can be helpful for public health strategies.
8.Consensus of Korean Asthma Study Group on Definition of Clinical Remission in Severe Asthma: A Modified Delphi Study
Sun Hye SHIN ; Joon Young CHOI ; Junghee YOON ; Youlim KIM ; Jong Geol JANG ; Ji-Yong MOON ; Chin Kook RHEE ; Kyung Hoon MIN ; Yong Il HWANG ; Yeon-Mok OH ; Seong Yong LIM ;
Tuberculosis and Respiratory Diseases 2026;89(2):215-225
Background:
Asthma remission has recently emerged as an aspirational treatment goal, yet its definition remains inconsistent across studies and expert groups. The absence of a standardized framework hampers its application in clinical practice and research, particularly in Korea where biologics use is rapidly increasing. This study aimed to establish a consensus definition of clinical remission in severe asthma among Korean experts.
Methods:
A two-round modified Delphi survey, followed by a focused third round, was conducted among 28 board-certified pulmonologists from the Korean Academy of Tuberculosis and Respiratory Diseases (KATRD). The questionnaire consisted of six domains and 27 items. Responses were analyzed using agreement rates, interquartile ranges, and content validity ratios to determine consensus levels.
Results:
Consensus was reached on defining clinical remission as a composite of no exacerbations, no systemic corticosteroid use, sustained symptom control (Asthma Control Test ≥20 on at least three occasions over 12 months), and stabilization and optimization of pulmonary function while on maintenance treatment. Experts agreed that pulmonary function should be assessed based on clinical judgment rather than absolute thresholds. Complete remission was additionally defined as fulfilling all clinical remission criteria with normalization of type 2 inflammation (blood eosinophils <300/μL and fractional exhaled nitric oxide <25 ppb).
Conclusion
This Delphi consensus provides a regionally relevant and pragmatic framework for defining remission in severe asthma. These statements may help guide clinical practice, inform guideline development, and support future research on remission as a treatment goal.
9.Korean Medication Algorithm Project for Depressive Disorder 2025:Comparisons with Other Treatment Guidelines
Won-Seok CHOI ; Young Sup WOO ; Won-Myong BAHK ; Nak-Young KIM ; Jeong Seok SEO ; Sheng-Min WANG ; Won KIM ; Sung-Yong PARK ; Jung Goo LEE ; Chan-Mo YANG ; Hyung Mo SUNG ; Young-Eun JUNG ; Moon-Doo KIM ; Jong-Hyun JEONG ; Bo-Hyun YOON ; Kyung Joon MIN
Clinical Psychopharmacology and Neuroscience 2026;24(1):2-14
The sixth edition of the Korean Medication Algorithm Project for Depressive Disorder (KMAP-DD) was published in 2025. This review compared KMAP-DD 2025 with four major international clinical practice guidelines: Canadian Network for Mood and Anxiety Treatments Clinical Guidelines for the Management of Major Depressive Disorders, National Institute for Health and Care Excellence Depression Guideline, Royal Australian and New Zealand College of Psychiatrists Clinical Practice Guidelines for Mood Disorders, and British Association for Psychopharmacology Guideline. While KMAP-DD is based on expert consensus, and others on evidence-based methods, overall treatment strategies for depressive episodes were fairly consistent. Especially, KMAP-DD 2025 offers more structured recommendations in areas lacking strong evidence, such as premenstrual dysphoric disorder, perinatal depression, and depression with medical comorbidities. KMAP-DD 2025 also reflected Korean clinical practice patterns emphasizing rapid symptom relief and early use of combination strategies. Despite limitations as a consensus-based guideline, KMAP-DD 2025 complements evidence-based approaches and provides practical, situation-specific guidance for real-world clinical decision-making in Korea.
10.Optimizing pediatric liver transplantation allocation: a simulation study on new splittable deceased donor criteria in Korea
Yuyoung OH ; Nam-Joon YI ; Kyung Chul YOON ; Su young HONG ; Suk Kyun HONG ; Kwang-Woong LEE ; YoungRok CHOI
Clinical Transplantation and Research 2026;40(1):68-75
Background:
We analyzed the status of organ distribution in pediatric deceased donor liver transplantation (DDLT) in Korea. Additionally, we estimated how many pediatric patients could have avoided living donor liver transplantation (LDLT) or survived if new criteria for splittable deceased donors were adopted. Based on the findings, we advocate expanding policy to promote the universal adoption of split liver transplantation (SLT).
Methods:
Using the Korean Network for Organ Sharing database, we identified patients who underwent DDLT between January 2000 and December 2020. We considered “po-tential splittable donors” those with a donor-to-recipient weight ratio of ≥1.0 who met the existing SLT criteria (age 10–40 years; weight ≥50 kg). By comparing the numbersof pediatric LDLT recipients and potential splittable donors annually, we estimated how many patients might have avoided LDLT if the left lateral section of each splittable liver had been allocated to a child. Additionally, we compared the number of deaths on the DDLT waiting list with the number of potential splittable donors to estimate possibly preventable deaths.
Results:
Overall, we identified 640 potential splittable donors. Over the 20-year period, 1,210 pediatric patients (<19 years old) received LDLT. If potentially splittable livers had been split, this number could have been nearly halved. Furthermore, 127 patients died while on the DDLT waiting list. Using SLT with potential splittable donors, these deaths might have been prevented.
Conclusions
SLT could reduce avoidable deaths among pediatric patients while decreasing the economic and social burden of LDLT, without compromising survival for adult DDLT recipients.

Result Analysis
Print
Save
E-mail