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.Effectiveness of low-dose mepolizumab in refractory eosinophilic granulomatosis with polyangiitis: systemic steroid use and remission
Mi-Ae KIM ; Ji-Hyun LEE ; Eun-Kyung KIM ; Jung-Hyun KIM ; Jisoo PARK ; Se Hee LEE ; Tae-Bum KIM
The Korean Journal of Internal Medicine 2026;41(1):163-174
Background/Aims:
This study investigated the clinical efficacy of low-dose mepolizumab (100 mg) in controlling severe eosinophilic asthma, aiming to induce eosinophilic granulomatosis with polyangiitis (EGPA) remission and reduce systemic steroid usage. Additionally, we constructed a basic frame for our longitudinal EGPA cohort by collecting serial blood samples before, during, and after mepolizumab treatment in EGPA patients.
Methods:
We conducted a 2-year prospective observational cohort study in patients with uncontrolled severe eosinophilic asthma and refractory EGPA who used systemic steroids (≥ 7.5 mg/day of prednisolone) or other immunosuppressant drugs for at least 6 months. All patients were treated with 100 mg of mepolizumab every 4 weeks for 1 year to control severe eosinophilic asthma and then were followed for an additional 1 year to monitor their disease course. We analyzed total systemic steroid use and EGPA remission/relapse during the study period.
Results:
Three EGPA patients were included in this study and completed 16 study visits over a 2-year period. After 1 year of treatment with mepolizumab (100 mg monthly), all 3 patients were able to reduce their maintenance dose of systemic steroids, with 2 patients completely discontinuing use. These 2 patients achieved EGPA remission during mepolizumab treatment, and their remission status remained stable for 1 year after they stopped receiving the medication.
Conclusions
Low-dose mepolizumab treatment demonstrated clinical efficacy in reducing the maintenance dose of systemic steroids required for severe refractory EGPA. While not all patients achieved EGPA remission with low-dose mepolizumab, some did, and their remission persisted even after treatment discontinuation.
3.Seasonal Trends of Major Respiratory, Gastrointestinal, and Other Viral Infections in Korea: An Analysis Before, During, and After the Coronavirus Disease 2019Pandemic
Su-Kyung LEE ; Ji Hyun KIM ; Hyun Soo KIM
Annals of Laboratory Medicine 2026;46(2):124-135
Some viral infections display distinct seasonal patterns influenced by factors such as climate, human behavior, and viral characteristics. In this review, we investigated the seasonality of 15 viral infections in Korea. We analyzed viruses for which national surveillance data are available from the Korea Disease Control and Prevention Agency, including influenza virus, respiratory syncytial virus (RSV), rhinovirus, parainfluenza virus, metapneumovirus, human bocavirus, seasonal coronaviruses, enterovirus, adenovirus, norovirus, rotavirus, Japanese encephalitis virus, Hantaan virus, varicella–zoster virus, and mumps virus. In temperate climates, such as that in Korea, winter peaks are commonly observed for influenza, RSV, and norovirus infections, whereas enteroviruses are more prevalent in summer and early autumn. Parainfluenza viruses exhibit type-specific seasonality (circulating in warmer months from spring to autumn). During the coronavirus disease 2019 pandemic (2020– 2021), the incidence of most respiratory and gastrointestinal viral infections analyzed in this study declined substantially owing to non-pharmaceutical interventions, such as social distancing and mask-wearing. After the preventive measures were relaxed, many viruses initially exhibited delayed or atypical seasonal peaks. However, by 2024, the seasonality of most, but not all, viral infections had largely returned to their pre-pandemic patterns. We also reviewed factors influencing viral seasonality, including climatic conditions, vector activity, human behavior, immunity, and viral genetic variation. These findings highlight the dynamic nature of viral seasonality and reinforce the importance of timely surveillance and flexible public health responses tailored to each country’s epidemiological landscape.
4.Diagnostic Accuracy of Serological Tests for Mycoplasma pneumoniae Infections in Children with Pneumonia, Based on Symptom Onset
Gahee KIM ; Ki Wook YUN ; Dayun KANG ; Taek Jin LEE ; Byung Wook EUN ; Hyunju LEE ; Yae-Jean KIM ; Doo Ri KIM ; Areum SHIN ; Hyun Mi KANG ; Ye Ji KIM ; Byung Ok KWAK ; Younghee LEE ; Ye Kyung KIM ; Young June CHOE ; Woosuck SUH ; Kyo Jin JO ; Kyung-Ran KIM ; Eun Young CHO ; Kyung Min KIM ; Joon Kee LEE ; Su Eun PARK
Annals of Laboratory Medicine 2026;46(2):162-170
Background:
Mycoplasma pneumoniae is a major cause of community-acquired pneumonia (CAP) in children, with a rising incidence of macrolide resistance. Early diagnosis is crucial for reducing the disease burden; however, current diagnostic tools have limitations.We evaluated the diagnostic accuracy of serological assays and their performance based on symptom onset in children with CAP.
Methods:
From September 2023 to September 2024, we prospectively enrolled children with CAP, classified as M. pneumoniae pneumonia (MPP) or non-MPP, from 16 hospitals in Korea. Serological testing included chemiluminescence immunoassay (CLIA) and ELISA for detecting IgM and IgG, along with particle agglutination (PA) for total antibody measurements. Serological responses were analyzed at different times after symptom onset (0–4, 5–9, and 10–21 days).
Results:
Among 472 children with CAP (362 MPP, 110 non-MPP), 138 (29.2%) underwent PA testing, and 334 (70.8%) underwent IgM testing. PA at a 1:640 cutoff showed 48.0% sensitivity and 100% specificity. CLIA and ELISA showed comparable sensitivities (69.1% vs. 69.2%) and specificities (76.9% vs. 66.7%) for IgM testing. Seropositivity increased significantly with time since symptom onset (P for trend < 0.001), reaching 97.9% for IgM, 62.5% for IgG, and 94.7% for PA at 10–21 days.
Conclusions
The time post-symptom onset significantly influenced the diagnostic utility of serological tests for pediatric MPP, which showed limited value during the early stage of illness. These findings emphasize the importance of symptom onset-based interpretation of serological test results and their utility in complementing PCR when optimizing MPP diagnosis in children.
5.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.
6.Real-World Efficacy of Intravesical Gemcitabine for BCG-Unresponsive Non–muscle-Invasive Bladder Cancer
Hye Won LEE ; Eui Hyun JUNG ; Kyung Hwan KIM ; Hong Koo HA ; Jong Jin OH ; Seok Ho KANG ; Seung-hwan JEONG ; Hyeong Dong YUK ; Ji Eun HEO ; Won Sik HAM ; Eu Chang HWANG ; Seung Il JUNG ; Wan SONG ; Bumjin LIM ; Bumsik HONG ; Byung Chang JEONG ; Ho Kyung SEO
Cancer Research and Treatment 2026;58(2):591-602
Purpose:
This study aimed to report the real-world outcomes of intravesical gemcitabine for bacillus Calmette–Guérin (BCG)–unresponsive, high-risk, non–muscle-invasive bladder cancer (HR-NMIBC) in Korean patients who were unable or unwilling to undergo radical cystectomy (RC).
Materials and Methods:
This retrospective study included 131 patients (median age, 69 years; 88.5% men) treated with intravesical gemcitabine for BCG-unresponsive HR-NMIBC at nine centers between May 2019 and April 2022. The primary endpoint was 1-year recurrence-free survival (RFS). The secondary endpoints included factors influencing RFS, progression-free survival (PFS), cystectomy- free survival, cancer-specific survival (CSS), overall survival (OS), and safety. Survival analysis was performed using the Kaplan-Meier method, and risk factors for recurrence were assessed using Cox regression models.
Results:
Patients were followed up for a median duration of 25 months, with carcinoma in situ (CIS) in 41.9% of the patients. The 1-year and 2-year RFS rates were 68% and 42%, while the 1-year and 2-year PFS rates were 87% and 77%, respectively. No significant factors influencing RFS were identified. Seventeen patients underwent RC during a median follow-up of 16 months, with the condition in three patients progressing to muscle-invasive disease on final pathological analysis. The 2-year CSS and OS rates were 98% and 97%, respectively. Intravesical gemcitabine was well-tolerated, with only seven patients (5.3%) unable to complete the full induction course.
Conclusion
Our research highlights the potential of intravesical gemcitabine as a viable bladder-sparing treatment option for BCG-unresponsive HR-NMIBC, providing real-world evidence on its safety, efficacy, and tolerability.
7.The Impact of Obesity on Treatment Outcomes in Patients with Hormone Receptor–Positive HER2-Negative Metastatic Breast Cancer Receiving CDK 4/6 Inhibitors
Yoo Bin JUNG ; Hee Kyung AHN ; Hyun-Young SHIN ; Ji Hyung HONG ; Chai Hong RIM
Cancer Research and Treatment 2026;58(1):198-207
Purpose:
Guidelines from the aromatase inhibitor era for early breast cancer (EBC) treatment recommend maintaining a body mass index (BMI) below 25. In the current era of cyclin-dependent kinase (CDK) 4/6 inhibitors, now standard in metastatic breast cancer (MBC), limited data exist on treatment outcomes in obese patients. This study investigates how adiposity affects the treatment outcome of CDK 4/6 inhibitors in patients with hormone receptor–positive, human epidermal growth factor receptor 2–negative MBC.
Materials and Methods:
We searched PubMed, MEDLINE, and Embase databases, assessing efficacy outcomes such as progression-free survival (PFS) based on obesity markers, including BMI and visceral adipose tissue (VAT) index.
Results:
Twelve studies were reviewed, with seven studies and 1,812 patients included in a pooled meta-analysis. Among patients with BMI ≥ 25, modest improvement in PFS was observed, with a pooled hazard ratio (HR) of 0.944 (95% confidence interval [CI], 0.909 to 0.980; p=0.003). Besides, add-on analysis using VAT to define obesity revealed a notable PFS improvement, with a pooled HR of 0.452 (95% CI, 0.256 to 0.798; p=0.006).
Conclusion
While BMI-defined obesity showed slight PFS improvement with CDK 4/6 inhibitors and endocrine therapy, using VAT to define obesity revealed significant PFS gains. This highlights the need for further research on biomarker to clarify the role of adiposity in MBC, which may differ from its impact in EBC.
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.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.
10.Dietary management of pediatric patients with kidney disease: recommendations by the Korean Society of Pediatric Nephrology and the Korean Society of Clinical Nutrition
Yo Han AHN ; Hee Gyung KANG ; Jiyoung SONG ; Sangmi HAN ; Eujin PARK ; Jin-Soon SUH ; Jeong Yeon KIM ; Min Ji PARK ; Keum Hwa LEE ; Seon Hee LIM ; Kyeong Hun SHIN ; Hyunji KO ; Hyun Joo LEE ; Eunyoung JEONG ; Jinsu KIM ; Sohyun PARK ; Eonju CHOI ; Yuri SEO ; Kyooyung OH ; Jin Kyoung KIM ; Hyun Kyung LEE
Childhood Kidney Diseases 2026;30(1):4-14
Pediatric kidney disease has a relatively lower prevalence than do other pediatric conditions and has a notably different etiology from kidney diseases observed in adults. Furthermore, the pediatric population is unique in that they experience ongoing growth and development, distinguishing them from adult patients. Consequently, pediatric patients with kidney disease require more specialized and meticulous nutritional management than do adults. To address this need and promote optimal dietary practices for pediatric patients with kidney disease, pediatric nephrologists from the Korean Society of Pediatric Nephrology and nutritionists from the Korean Society of Clinical Nutrition have collaborated to establish nutritional guidelines specifically tailored to Korean dietary patterns. These guidelines offer detailed, nutrient-specific recommendations covering energy, protein, calcium, phosphorus, and potassium consumption while providing practical, culturally relevant guidance intended to support both pediatric patients and their caregivers.

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