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.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.
4.Toward a Better Life through the Integration of Medical and Care Services
Korean Journal of Family Practice 2026;16(1):59-63
With the enforcement of the ‘Act on Integrated Support for Community Care, such as Medical and Nursing Care’ in March 2026, South Korea faces a historic paradigm shift toward state-mandated care responsibility. However, current preparations are disproportionately skewed toward domestic and physical support, leaving essential medical treatments in a blind spot. This absence of adequate home-based medical services often drives mobility-impaired patients into unnecessary “social hospitalizations,” resulting in significant fiscal leakage and incomplete care delivery. To realize authentic ‘Aging in Place,’ this paper proposes four strategic innovations. First, fragmented individual clinic models must evolve into hub-based ‘Community Home-Based Medical Centers’ centered on local medical associations or public health centers to ensure 24-hour responsiveness.Second, a paradigm shift from a culture of ‘blame and punishment’ to ‘recovery and safety’ is necessary to establish a patient safety net and encourage provider participation in home environments. Third, hospital-community connections should be reinforced by mandating discharge planning and institutionalizing ‘Transitional Care’ to provide intensive medical services for three months post-discharge. Finally, a unified ‘Community Integrated Care Agency’ should be established to coordinate budgets and administration currently bifurcated between medical and welfare sectors.In conclusion, medical integration is fundamental to completing the care cycle. Implementing these tasks will prevent unnecessary hospitalizations and ensure a sustainable, healthy aging process within communities.
5.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.
6.The Role of Inflammasome in the Pathogenesis of Alopecia Areata:NLRP3 and Its Cascade Contribute to the Onset and Early Stage of Alopecia Areata
Ji-Hoon LIM ; Da-Hyun KANG ; Haena MOON ; Soon-Hyo KWON ; Bark-Lynn LEW
Annals of Dermatology 2026;38(3):202-209
Background:
The inflammasome, a multiprotein complex, is crucial in the pathogenesis of various autoinflammatory disorders. In particular, the NOD-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome has recently been associated with diseases such as psoriasis, vitiligo, lupus, and alopecia areata (AA).
Objective:
The objective of this study is to investigate the potential involvement of the inflammasome in the pathogenesis of AA and to determine its correlation with clinical manifestations.
Methods:
A total of 144 patients with AA and 22 healthy controls were included. Scalp skin and serum samples were collected to assess the levels of NLRP3-related molecules in lesional tissue and blood, respectively. Additionally, we performed immunostaining to measure the expression of NLRP3 and caspase-1 in the outer root sheath (ORS).
Results:
Lesional interleukin-1β expression was significantly elevated in patients with AA at all stages compared with controls. In the progressive stage, lesional C-X-C motif chemokine ligand 10 levels were markedly higher than those in controls and other stages. Serum interferon-γ levels were also significantly increased during the progressive stage of AA compared with controls. Immunostaining revealed strong NLRP3 and caspase-1 positivity in the ORS during the initial and progressive stages of AA, in contrast to the recovery stage.
Conclusion
These results highlight the functional role of the inflammasomes in the pathogenesis of AA.
7.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.
8.Detection Ability of Quality of Life Changes and Responsiveness of the KOQUSS-40 and the EORTC QLQ-C30/STO22 in Patients Who Underwent Gastrectomy: A Prospective Comparative Study
Bang Wool EOM ; Keun Won RYU ; Ji Yeong AN ; Yun-Suhk SUH ; In CHO ; Sung Geun KIM ; Ji-Ho PARK ; Hoon HUR ; Hyung-Ho KIM ; Sang-Hoon AHN ; Sun-Hwi HWANG ; Hong Man YOON ; Ki Bum PARK ; Hyoung-Il KIM ; In-Gyu KWON ; Han-Kwang YANG ; Byoung-Jo SUH ; Sang-Ho JEONG ; Tae-Han KIM ; Oh Kyoung KWON ; Hye-Seong AHN ; Ji Yeon PARK ; Ki Young YOON ; Myoung Won SON ; Seong-Ho KONG ; Young-Gil SON ; Geum Jong SONG ; Jong Hyuk YUN ; Jung-Min BAE ; Do Joong PARK ; Sol LEE ; Jun-Young YANG ; Kyung Won SEO ; You-Jin JANG ; So Hyun KANG ; Joongyub LEE ; Hyuk-Joon LEE ;
Cancer Research and Treatment 2026;58(1):221-231
Purpose:
The aim of this study is to compare the detection ability of quality of life (QoL) changes and responsiveness of the KOrean QUality of life in Stomach cancer patients Study group (KOQUSS)-40 and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ).
Materials and Methods:
A multicenter prospective observational study was conducted to evaluate QoL changes after various gastrectomies between January 2021 and April 2022. Participants were instructed to complete the KOQUSS-40 and EORTC QLQ-C30/STO22 preoperatively and at 1, 3, 6, and 12 months postoperatively. QoL changes over time and QoL responsiveness were assessed for each questionnaire.
Results:
Data from 491 patients who underwent curative gastrectomy for gastric cancer at 22 institutions were analyzed. The summary scores of the KOQUSS-40 and EORTC QLQ-STO22 showed significant differences between the total and proximal gastrectomy groups (p=0.044 and p=0.038, respectively), but no difference was observed for the EORTC QLQ-C30. Dysphagia on the KOQUSS-40 was significantly different between the total and proximal gastrectomy groups (p=0.031); however, dysphagia on the EORTC QLQ-STO22 did not differ. The responsiveness of the KOQUSS-40 was similar to that of the EORTC QLQ in patients who experienced ≥ 10% body weight loss, but approximately 10% less in patients receiving adjuvant chemotherapy than the EORTC QLQ.
Conclusion
KOQUSS-40 has several advantages over EORTC QLQ-C30/STO22 when comparing QoL between the total and proximal gastrectomy groups. The findings provide information for researchers investigating the QoL of patients who have undergone curative gastrectomy for gastric cancer.
9.Long-term Immunogenicity of the 13-valent Pneumococcal Conjugate Vaccine during Adjuvant Chemotherapy in Patients with Gastric and Colorectal Cancer: A 5-Year Follow-up of a Randomized Controlled Trial
Hyeon-Jong KIM ; Hyunjin BANG ; Hyun-Jung SHIM ; Jun Eul HWANG ; Sang-Hee CHO ; Ik-Joo CHUNG ; Seung Ji KANG ; Jong Gwang KIM ; Seung-Hoon BEOM ; A-Yeung JANG ; Joon Young SONG ; Woo Kyun BAE
Cancer Research and Treatment 2026;58(1):61-70
Purpose:
Current guidelines recommend vaccination at least 2 weeks before chemotherapy initiation to optimize the immune response despite limited evidence. Our previous study indicated no differences in short-term immune response for the 13-valent pneumococcal conjugate vaccine (PCV13) according to the vaccination timing. This study aims to investigate the long-term efficacy of PCV13 and clinical factors associated with the respective antibody response.
Materials and Methods:
Patients with gastric or colorectal cancer who received adjuvant chemotherapy were enrolled and divided into two groups: vaccinated 2 weeks before chemotherapy (arm A) and vaccinated concurrently with chemotherapy (arm B). Serum samples were collected before vaccination and in one month, 3 years, and 5 years. Immune responses were measured using enzyme-linked immunosorbent assay and multiplex opsonophagocytosis assay.
Results:
Including 63 patients, both groups showed an initial increase in the geometric mean titers of opsonophagocytic activity and the geometric mean concentrations of serotype-specific IgG levels after one month, followed by a decline at 3 and 5 years, particularly for serotypes 1, 14, 18C, and 19A. Despite the decline, global protection was maintained for 5 years, although global response decreased. The two arms did not show significant differences in immunogenicity nor in factors such as vaccination timing, age, cancer type, or chemotherapy regimen.
Conclusion
Vaccination timing is not a significant factor for the immunogenicity of PCV13 in cancer patients undergoing adjuvant chemotherapy. Global protection against pneumococcal infection was sustained for > 5 years, and global response remained in over half of patients.
10.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.

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