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.Structured Integration of an Artificial Intelligence-Based System for the Optical Diagnosis of Colorectal Polyps
Hae Yeon KANG ; Soonwhan KANG ; Goh Eun CHUNG ; Dong Hoon BAEK ; Hong Sub LEE ; Jinbae PARK ; Sun Young YANG ; Seon Hee LIM ; Ji Min CHOI ; Jung KIM ; Jung Ho BAE
Gut and Liver 2026;20(1):86-96
Background/Aims:
Recent advances in computer-aided diagnosis (CADx) systems have demonstrated expert-level accuracy in the optical diagnosis of colorectal polyps. High-confidence (HC) diagnoses have been defined as those made within 3 seconds without hesitation, and these systems have been shown to improve diagnostic accuracy. We aimed to evaluate the performance of endoscopists with varying levels of experience in diagnosing colorectal polyps with the assistance of a new CADx system applying the 3-second rule and without artificial intelligence assistance.
Methods:
In this multicenter ex vivo study, 35 endoscopists assessed 100 polyps (51 adenomas, 39 hyperplastic polyps, 10 sessile serrated lesions) using narrow-band imaging video clips on an online platform. Assessments consisted of individual endoscopist diagnosis and CADx-assisted diagnosis. HC assignments followed the 3-second rule in both phases. Performance metrics included HC accuracy, HC rate, and adherence to the Preservation and Incorporation of Valuable Endoscopic Innovations (PIVI) and Simple Optical Diagnosis Accuracy (SODA) thresholds.
Results:
HC diagnostic accuracy improved from 78.3% (95% confidence interval [CI], 76.6% to 80.0%) to 89.8% (95% CI, 88.6% to 90.9%) with CADx assistance (p<0.001). The proportion of HC predictions increased from 64.2% to 75.4% (p<0.001). Novice endoscopists showed marked improvement with CADx (74.1% vs 88.8%; p<0.001). CADx-assisted diagnoses nearly met SODA and PIVI thresholds under the 3-second rule. Additional analysis demonstrated that CADx assistance significantly improved interobserver agreement and ground truth, particularly for novices (κ=0.37 to κ=0.65; p<0.001).
Conclusions
Integrating CADx with the 3-second rule significantly enhances the performance of endoscopists in the optical diagnosis of colorectal polyps, with the greatest benefit observed among novice endoscopists.
3.Establishing Epidemiological Cutoff Values for Helicobacter pylori Strains in Korea: A Model-Based Analysis of Antibiotic Resistance Patterns
Jin Hee NOH ; Jung Mogg KIM ; Hwoon-Yong JUNG ; Ji Yong AHN ; Sun Mi LEE ; Seong Woo JEON ; Yong Hwan KWON ; Jeong Hoon LEE ; Kee Don CHOI ; Eun Jeong GONG
Gut and Liver 2026;20(1):47-58
Background/Aims:
The absence of standardized clinical minimum inhibitory concentration (MIC) breakpoints for Helicobacter pylori infection has resulted in inconsistent resistance definitions, even within the same research group in Korea. Therefore, establishing epidemiological cutoff values (ECOFFs) is essential for standardization.
Methods:
The MIC distributions for antibiotics commonly used against H. pylori infection in South Korea were analyzed from 2015 to 2023. A total of 5,925 primary H. pylori isolates were collected from five data sources, and MIC values were determined using the serial 2-fold agar dilution method. The ECOFFinder program was used to establish ECOFFs for six antibiotics.
Results:
The tentative ECOFFs for amoxicillin and clarithromycin were 0.125 μg/mL. The ECOFFs for levofloxacin, metronidazole, and tetracycline were 0.5, 8.0, and 0.25 μg/mL, respec-tively. The ECOFF for rifabutin could not be determined due to insufficient data. On the basis of these ECOFFs, the resistance rate was 17.9% for amoxicillin, 31.9% for clarithromycin, 40.9% for levofloxacin, 24.7% for metronidazole, and 11.5% for tetracycline.
Conclusions
This comprehensive analysis defined regional antibiotic resistance patterns and established Korea-specific ECOFFs, providing a foundation for determining clinical breakpoints and optimizing H. pylori eradication strategies.
4.Multifocal IOL Power Calculation Using the Barrett True-K Formula After Radial Keratotomy: A Case Report
Ji Hoon BAN ; Myung Ho CHO ; Jae Hyun KIM ; Jong Soo LEE
Journal of the Korean Ophthalmological Society 2026;67(2):67-72
Purpose:
To report the clinical utility of the Barrett True-K formula in predicting multifocal intraocular lens (IOL) power in a patient with corneal deformation caused by radial keratotomy (RK), where postoperative refractive power prediction is challenging.Case summary: A 61-year-old male who underwent RK 30 years ago presented for cataract surgery. Slit-lamp examination showed eight RK incisions in each eye. Refractive error was +3.25 D sph; -1.75 D cyl, axis 70 in the right eye and +2.75 D sph; -1.00 D cyl, axis 110 in the left. Uncorrected visual acuity was 0.32 in the right eye and 0.63 in the left. IOL power was calculated using the Barrett True-K formula on the IOLMaster 700, with a target refraction of -0.25 D, and a multifocal IOL was implanted. Six months after cataract surgery, both eyes achieved a fraction close to emmetropia, with best corrected visual acuity of 0.63 in the right eye and 1.0 in the left. No significant refractive shifts or other complications were observed during surgery or 6-month follow-up.
Conclusions
The Barrett True-K formula, which measures the actual corneal refractive power to compensate for corneal deformation, is expected to be clinically useful for multifocal IOL implantation during cataract surgery in eyes after RK.
5.Comparison Between Early Vitrectomy and Intravitreal Antibiotic Injection in Endophthalmitis Following Cataract Surgery
Ji Yeon MOON ; In Hwan CHO ; Hoon Dong KIM
Journal of the Korean Ophthalmological Society 2026;67(5):143-152
Purpose:
To compare the clinical outcomes of early pars plana vitrectomy versus intravitreal antibiotic injection in patients who developed infectious endophthalmitis after cataract surgery.
Methods:
The medical records of patients diagnosed with infectious endophthalmitis following cataract surgery between 2006 and 2023, whose initial best-corrected visual acuity (BCVA) values were 0.48 to 2.3 in LogMAR units, were retrospectively reviewed. Final BCVA and the degree of visual improvement were compared between early vitrectomy and intravitreal antibiotic injection-only groups. Additionally, patients who underwent delayed vitrectomy within 3 days after the initial intravitreal antibiotic injection (delayed vitrectomy group) were separately analyzed and compared.
Results:
At 6 months post-treatment, the mean BCVA values were significantly better in the early vitrectomy group (0.37 ± 0.27) than in the injection group (1.02 ± 0.81) (p = 0.004); the early vitrectomy group also had greater visual improvement at both 1 week and 6 months after treatment (p = 0.004, p < 0.001). Compared to the delayed vitrectomy group, the early group demonstrated significantly greater visual improvement at both time points (p = 0.010, p = 0.001). The retreatment rate was higher in the injection group than in the early vitrectomy group.
Conclusions
In patients who developed infectious endophthalmitis after cataract surgery and had an initial visual acuity between light perception or better and 20/60, early vitrectomy resulted in better visual outcomes compared to intravitreal antibiotic injection alone or delayed vitrectomy.
6.Risk factors for bleeding from gastric antral vascular ectasia
Sung Hyun CHO ; Jinyoung KIM ; Hee Kyong NA ; Ji Yong AHN ; Jeong Hoon LEE ; Kee Wook JUNG ; Do Hoon KIM ; Kee Don CHOI ; Ho June SONG ; Gin Hyug LEE ; Hwoon-Yong JUNG
The Korean Journal of Internal Medicine 2026;41(1):74-84
Background/Aims:
Gastric antral vascular ectasia (GAVE) is a rare but important cause of gastrointestinal (GI) bleeding. The clinical course of GAVE is not well-known, and recurrent bleeding from GAVE is a therapeutic challenge. Therefore, we investigated the clinical course of GAVE and identified the risk factors for bleeding from it.
Methods:
We retrospectively reviewed the records of patients diagnosed with GAVE using upper GI endoscopy at Asan Medical Center between January 2004 and December 2019 and evaluated the clinical course and risk factors for bleeding from GAVE.
Results:
Of the 348 patients (mean age, 62.3 ± 10.7 years; male, 62%), bleeding from GAVE occurred in 123 (35%) patients during follow-up (median, 17.3 months; interquartile range [IQR], 4.2–46.6). GI bleeding from GAVE was significantly associated with Child–Pugh class B or C liver cirrhosis (odds ratio [OR], 2.55; 95% confidence interval [CI], 1.57–4.16), chronic kidney disease (CKD) (OR, 2.77; 95% CI, 1.52–5.07), use of antithrombotic agents (OR, 2.34; 95% CI, 1.13–4.82), and involvement of the duodenal bulb (OR, 3.21; 95% CI, 1.76–5.86). Rebleeding occurred in 39 of 123 patients (32%), in whom CKD (OR, 2.55; 95% CI, 1.12–5.81) was significantly associated with rebleeding. Endoscopic hemostasis was most commonly performed using argon plasma coagulation, and the median number of endoscopic hemostasis performed was 2 (IQR, 1–3).
Conclusions
A careful follow-up for bleeding is needed in GAVE patients with liver cirrhosis, CKD, use of antithrombotic agents, and duodenal bulb involvement.
7.The Korean Rectal Cancer Multidisciplinary Committee Clinical Practice Guidelines for Rectal Cancer version 2.0
Hyo Seon RYU ; Hyun Jung KIM ; Dong Hyun KANG ; Yoo-Kang KWAK ; Han Deok KWAK ; Yoon-Hye KWON ; Dalyon KIM ; Baek-Hui KIM ; Jae Hyun KIM ; Ji Hun KIM ; Jin Won KIM ; Tae Hyung KIM ; Hae Young KIM ; Soo Min NAM ; Gyoung Tae NOH ; Jun Woo BONG ; Nak Song SUNG ; Seon Hui SHIN ; Kil-Yong LEE ; Sung Chul LEE ; Sea-Won LEE ; Jung Won LEE ; Jong Min LEE ; Myung Hoon IHN ; Joo Han LIM ; Woong Bae JI ; Dae Hee PYO ; Young Ki HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2026;42(1):4-33
Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.
8.Impact of Thyroid CT on Detecting Macroscopic Nodal Metastasis in Patients With Papillary Thyroid Microcarcinoma
Young Hun JEON ; Ji Ye LEE ; Taehyuk HAM ; Kyu Sung CHOI ; Inpyeong HWANG ; Roh-Eul YOO ; Koung Mi KANG ; Ji-hoon KIM
Korean Journal of Radiology 2026;27(5):484-494
Objective:
To evaluate the impact of adding CT to ultrasound (US) for nodal assessment in patients with papillary thyroid microcarcinoma (PTMC), particularly in those with US-node-negative disease.
Materials and Methods:
This single-center retrospective study included consecutive patients with PTMC (≤1 cm on US) who underwent both US and CT for PTMC staging between August 2016 and January 2020, and subsequently underwent surgery including neck dissection. The number of patients with clinical N1 and pathological N1 disease was assessed. The diagnostic performance of US, CT, and combined US + CT (positive if either was positive) for macroscopic lymph node metastasis (LNM) (i.e., metastatic tumor foci >2 mm) was evaluated. Cases with discordant nodal staging between US and CT were identified.The diagnostic utility of CT was also assessed in a subgroup of patients with node-negative findings on US.
Results:
Among 982 patients (mean age ± standard deviation, 47.3 ± 11.5 years; 774 female), pathological analysis confirmed cervical LNM in 377 patients, including macroscopic, microscopic, and size-unknown LNM in 187, 175, and 15 patients, respectively. The addition of CT to US improved sensitivity for detecting macroscopic LNM compared to US alone (68.4% [128/187] vs. 26.7% [50/187]; P < 0.001), while maintaining high specificity despite a significant decrease (90.9% [709/780] vs. 97.2% [758/780]; P < 0.001). Discordant nodal staging between US and CT regarding macroscopic LNM was observed in 149 cases (15.2% [149/982]), with 131 patients (87.9% [131/149]) being upstaged by CT. In patients with node-negative US findings, CT detected US-undetected macroscopic LNM in 78 patients (8.7% [78/895]) and exhibited a sensitivity of 56.9% (78/137) and specificity of 93.5% (709/758) for macroscopic LNM.
Conclusion
The integration of CT with US improved sensitivity for detecting macroscopic LNM in patients with PTMC, identifying those who would otherwise be inappropriately considered candidates for active surveillance based solely on US findings. This may assist in refining patient management.
9.Lycium Radicis Cortex and Its Kukoamine Constituents Attenuate Sarcopenia by Modulating Anabolic and Catabolic Pathways
Jae-Yong KIM ; Rak Ho SON ; Sang-Yoon KIM ; Ji Hoon KIM ; Sunhoo KIM ; Chul Young KIM
Biomolecules & Therapeutics 2026;34(1):189-201
Lycium Radicis Cortex (LRC), derived from the root bark of Lycium chinense Mill., has traditionally been used in East Asian medicine to mitigate heat in the blood and consumptive fever. This study investigates LRC’s effects on skeletal muscle in aged mice subjected to forced exercise and examines the protective properties of its primary constituents, kukoamines A (KA) and B (KB), against dexamethasone (DEX)-induced muscle atrophy. Sixteen-month-old male C57BL/6 mice underwent regular swimming and received oral LRC supplementation for 8 weeks. The effects of KA and KB on muscle atrophy were further explored using C2C12 myotubes treated with DEX. LRC administration significantly enhanced muscle mass, strength, and endurance, while reducing plasma lactate and creatinine levels compared to the control group. LRC also upregulated mRNA expression of MyoD, myogenin, MHC, Akt, and mTOR, and downregulated myostatin, FoxO3a, MuRF1, and atrogin-1 in gastrocnemius and soleus muscles. Furthermore, KA and KB alleviated DEX-induced muscle atrophy in C2C12 myotubes by reducing proteolysis and ROS production, enhancing SOD activity, and improving mitochondrial function. Taken together, LRC may be a useful supplement in exercise-based muscle strengthening and amelioration of muscle disorders, and KA and KB have shown potential as preventive and therapeutic agents for muscle atrophy, indirectly suggesting that the efficacy of LRC is attributed to KA and KB.
10.FDFT1 Acts as a Negative Regulator of Autophagy by Modulating AMPK–ULK1 Signaling in Hepatocellular Carcinoma Cells
Thi Ha NGUYEN ; Yongook LEE ; Minh Tuan NGUYEN ; Seoung Gyu CHOI ; Phuong Ngan NGUYEN ; Boram KIM ; Eun Ji KIM ; Gyeoung Jin KANG ; Mi Kyung PARK ; Sung Hoon LEE ; Sang Geon KIM ; Chang Hoon LEE
Biomolecules & Therapeutics 2026;34(3):632-640
Autophagy is a conserved catabolic process that degrades proteins and damaged organelles to maintain cellular homeostasis, and its role in cancer depends on stage and context. Farnesyl-diphosphate farnesyltransferase 1 (FDFT1) is an essential enzyme in the sterol branch of the mevalonate pathway, but its functions in hepatocellular carcinoma (HCC) and in the regulation of autophagy remain poorly understood. In this study, we show that FDFT1 acts as a negative regulator of autophagy in HCC cells. Loss of FDFT1 led to increased autophagosome formation and fusion with lysosomes, whereas its overexpression suppressed both basal and induced autophagy. These changes were associated with AMPK–ULK1 signaling, suggesting that FDFT1 influences a central pathway controlling autophagy. Our findings connect cholesterol metabolism with autophagy regulation and tumor growth, highlighting FDFT1 as a potential prognostic marker and therapeutic target in liver cancer.

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