1.Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon LEE ; Jin ROH ; Jun Sung PARK ; Islam Oguz TUNCAY ; Wonchul LEE ; Jung-Ah KIM ; Brian Baek-Lok OH ; Jong-Yeon SHIN ; Jeong Seok LEE ; Young Seok JU ; Ryul KIM ; Seongyeol PARK ; Jaemo KOO ; Hansol PARK ; Joonoh LIM ; Erin CONNOLLY-STRONG ; Tae-Hwan KIM ; Yong Won CHOI ; Mi Sun AHN ; Hyun Woo LEE ; Seokhwi KIM ; Jang-Hee KIM ; Minsuk KWON
Cancer Research and Treatment 2025;57(2):350-361
Purpose:
Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:
This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:
TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion
TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.
2.Assessing the Efficacy of Bortezomib and Dexamethasone for Induction and Maintenance Therapy in Relapsed/Refractory Cutaneous T-Cell Lymphoma: A Phase II CISL1701/BIC Study
Yoon Seok CHOI ; Joonho SHIM ; Ka-Won KANG ; Sang Eun YOON ; Jun Sik HONG ; Sung Nam LIM ; Ho-Young YHIM ; Jung Hye KWON ; Gyeong-Won LEE ; Deok-Hwan YANG ; Sung Yong OH ; Ho-Jin SHIN ; Hyeon-Seok EOM ; Dok Hyun YOON ; Hong Ghi LEE ; Seong Hyun JEONG ; Won Seog KIM ; Seok Jin KIM
Cancer Research and Treatment 2025;57(1):267-279
Purpose:
This multicenter, open-label, phase II trial evaluated the efficacy and safety of bortezomib combined with dexamethasone for the treatment of relapsed/refractory cutaneous T-cell lymphoma (CTCL) in previously treated patients across 14 institutions in South Korea.
Materials and Methods:
Between September 2017 and July 2020, 29 patients with histologically confirmed CTCL received treatment, consisting of eight 4-week cycles of induction therapy followed by maintenance therapy, contingent upon response, for up to one year. The primary endpoint was the proportion of patients achieving an objective global response.
Results:
Thirteen of the 29 patients (44.8%) achieved an objective global response, including two complete responses. The median progression-free survival (PFS) was 5.8 months, with responders showing a median PFS of 14.0 months. Treatment-emergent adverse events were generally mild, with a low incidence of peripheral neuropathy and hematologic toxicities. Despite the trend toward shorter PFS in patients with higher mutation burdens, genomic profiling before and after treatment showed no significant emergence of new mutations indicative of disease progression.
Conclusion
This study supports the use of bortezomib and dexamethasone as a viable and safe treatment option for previously treated CTCL, demonstrating substantial efficacy and manageability in adverse effects. Further research with a larger cohort is suggested to validate these findings and explore the prognostic value of mutation profiles.
3.Korean Red Ginseng and Saponin Regulate the Cytokine and Mucin 5AC/5B Induced by Electronic Cigarette in Respiratory Epithelial Cell
Sang Jae LEE ; Hyung Gyun NA ; Yoon Seok CHOI ; Si-Youn SONG ; Yong-Dae KIM
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(1):27-35
Background and Objectives:
Electronic cigarette (e-cigarette) is a device that generate vapor by heating e-cigarettes liquid. E-cigarette damages the respiratory immune system and renders the respiratory tract vulnerable to inflammations. However, there are no studies on how the inflammatory reactions in respiratory epithelial cells caused by e-cigarette occur, and the effects of Korean red ginseng (KRG) and saponin on inflammation induced by e-cigarette are unknown. This study aimed to compare the inflammatory reactions caused by e-cigarette and lipopolysaccharide (LPS), and to investigate the effects of KRG and saponin on cytokine and mucin expression induced by e-cigarette in respiratory epithelial cells.Subjects and Method In bronchoalveolar lavage fluid and lung tissue of mice, the effects of KRG and saponin on cytokines (interleukin [IL]-1β, IL-6, IL-8) and mucin 5AC/5B (MUC5AC/5B) expression induced by e-cigarette were investigated using real-time polymerase chain reaction, enzyme linked immunosorbent assay, and immunohistochemistry staining.
Results:
Inflammatory cells, cytokines (IL-1β, IL-6, IL-8) and MUC5AC/5B messenger RNA expression and protein production were increased by e-cigarette, similar to LPS. KRG and saponin decreased the expression of cytokines (IL-1β, IL-6, IL-8) and MUC5AC/5B induced by e-cigarette. KRG and saponin showed effects similar to that of dexamethasone.
Conclusion
E-cigarette causes inflammation similar to that caused by LPS. KRG and saponin regulate the expression of cytokine and MUC5AC/5B increased by e-cigarette in respiratory epithelial cells. KRG and saponin may be an effective therapeutic option for inflammatory responses induced by e-cigarette in respiratory epithelial cells.
4.Primary Cholangiocarcinoma of the Liver Presenting as a Complicated Hepatic Cyst: A Diagnostic Challenge
Chang Won HA ; Sang Deok SHIN ; Myung Ji GOH ; Byeong Geun SONG ; Wonseok KANG ; Dong Hyun SINN ; Geum-Youn GWAK ; Yong-Han PAIK ; Moon Seok CHOI ; Joon Hyeok LEE
The Korean Journal of Gastroenterology 2025;85(1):83-88
Primary cholangiocarcinoma is a rare bile duct epithelial neoplasm that can present with atypical clinical manifestations, complicating its diagnosis. A 62-year-old male showed symptoms suggestive of a complicated hepatic cyst that was later identified as intrahepatic cholangiocarcinoma. The patient presented with abdominal discomfort without fever. Imaging revealed a large cystic lesion in the liver. Despite the initial treatment for a presumed abscess, a biopsy confirmed cholangiocarcinoma. This case highlights the diagnostic challenge of distinguishing between benign complicated hepatic cysts and malignancies, particularly when typical markers of infection are absent. Early biopsy and vigilant assessments are crucial in such presentations to avoid a delayed diagnosis and initiate appropriate treatment.
5.Miliary Tuberculosis Initially Presenting as an Isolated Hepatic Abscess
Chang Won HA ; Sang Deok SHIN ; Myung Ji GOH ; Byeong Geun SONG ; Wonseok KANG ; Dong Hyun SINN ; Geum-Youn GWAK ; Yong-Han PAIK ; Moon Seok CHOI ; Joon Hyeok LEE
The Korean Journal of Gastroenterology 2025;85(1):78-82
Hepatic tuberculosis, typically associated with miliary tuberculosis, can occasionally present as localized liver lesions. This case report describes a 77-year-old male presenting with persistent abdominal pain and fever, following an endoscopic retrograde cholangiopancreatography for bile duct sludge removal. Subsequent computed tomography revealed focal liver lesions. Despite initial treatment with antibiotics for a suspected inflammatory liver abscess, his condition did not improve. A liver biopsy was performed, revealing caseous granulomas, and the tuberculosis polymerase chain reaction result was positive. The patient was diagnosed with primary hepatic tuberculosis, which later disseminated. Oral anti-tuberculosis therapy was initiated and is currently being closely monitored. This case emphasizes the importance of considering hepatic tuberculosis in the differential diagnosis of liver lesions, particularly in cases involving cholestatic liver function tests, and persistent symptoms unresponsive to conventional antibiotics.
6.Korean Red Ginseng and Saponin Regulate the Cytokine and Mucin 5AC/5B Induced by Electronic Cigarette in Respiratory Epithelial Cell
Sang Jae LEE ; Hyung Gyun NA ; Yoon Seok CHOI ; Si-Youn SONG ; Yong-Dae KIM
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(1):27-35
Background and Objectives:
Electronic cigarette (e-cigarette) is a device that generate vapor by heating e-cigarettes liquid. E-cigarette damages the respiratory immune system and renders the respiratory tract vulnerable to inflammations. However, there are no studies on how the inflammatory reactions in respiratory epithelial cells caused by e-cigarette occur, and the effects of Korean red ginseng (KRG) and saponin on inflammation induced by e-cigarette are unknown. This study aimed to compare the inflammatory reactions caused by e-cigarette and lipopolysaccharide (LPS), and to investigate the effects of KRG and saponin on cytokine and mucin expression induced by e-cigarette in respiratory epithelial cells.Subjects and Method In bronchoalveolar lavage fluid and lung tissue of mice, the effects of KRG and saponin on cytokines (interleukin [IL]-1β, IL-6, IL-8) and mucin 5AC/5B (MUC5AC/5B) expression induced by e-cigarette were investigated using real-time polymerase chain reaction, enzyme linked immunosorbent assay, and immunohistochemistry staining.
Results:
Inflammatory cells, cytokines (IL-1β, IL-6, IL-8) and MUC5AC/5B messenger RNA expression and protein production were increased by e-cigarette, similar to LPS. KRG and saponin decreased the expression of cytokines (IL-1β, IL-6, IL-8) and MUC5AC/5B induced by e-cigarette. KRG and saponin showed effects similar to that of dexamethasone.
Conclusion
E-cigarette causes inflammation similar to that caused by LPS. KRG and saponin regulate the expression of cytokine and MUC5AC/5B increased by e-cigarette in respiratory epithelial cells. KRG and saponin may be an effective therapeutic option for inflammatory responses induced by e-cigarette in respiratory epithelial cells.
7.Transforaminal Endoscopic Thoracic Discectomy Is More Cost-Effective Than Microdiscectomy for Symptomatic Disc Herniations
Junseok BAE ; Pratyush SHAHI ; Sang-Ho LEE ; Han-Joong KEUM ; Ju-Wan SEOK ; Yong-Soo CHOI ; Jin-Sung KIM
Neurospine 2025;22(1):118-127
Objective:
To analyze costs and cost-effectiveness of transforaminal endoscopic thoracic discectomy (TETD) for the treatment of symptomatic thoracic disc herniation (TDH) and compare it with open microdiscectomy (MD).
Methods:
This retrospective cohort study included patients who underwent TETD or MD for symptomatic TDH and had a minimum follow-up of 1 year. Cost analysis included direct costs (primary and secondary hospital costs), indirect costs (lost wages due to work absence), total costs (direct + indirect), and cost-effectiveness (cost per quality-adjusted life year [QALY] and incremental cost-effectiveness ratio [ICER]). Clinical outcomes included patient-reported outcome measures (Oswestry Disability Index [ODI], 36-item Short Form health survey [SF-36]), QALY gained, and reoperation and readmission rates at 1 year. TETD and MD groups were compared for outcome measures.
Results:
A total of 111 patients (57 TETD, 54 MD) were included. The direct ($6,270 TETD vs. $7,410 MD, p < 0.01), indirect costs ($1,250 TETD vs. $1,450 MD, p < 0.01), total costs ($7,520 TETD vs. $8,860 MD, p < 0.01), and cost per QALY ($31,333 TETD vs. $44,300 MD, p < 0.01) were significantly lower for TETD compared to MD. ICER of TETD was found to be -$33,500. At 1 year, TETD group showed significantly greater improvement in ODI (46% vs. 36%, p < 0.01) and SF-36 (64% vs. 53%, p < 0.01) and significantly greater QALY gained (0.24 vs. 0.2, p < 0.01) compared to MD group. No significant difference was found in reoperation and readmission rates.
Conclusion
TETD demonstrated significantly better clinical outcomes, lower overall costs, and better cost-effectiveness than MD in appropriately selected patients of symptomatic TDH.
8.Structural Validity of the Diagnostic Interview for Internet Addiction Scale for Clinical Samples in Korean Children and Adolescents: Exploratory and Confirmatory Factor Analysis
Mi-Sun LEE ; Jung-Seok CHOI ; Yong-Sil KWEON ; Soo-Young BHANG
Psychiatry Investigation 2025;22(2):167-174
Objective:
This study aimed to validate the reliability and validity of the Diagnostic Interview for the Internet Addiction Scale (DIA) among Korean children and adolescents in the clinical setting.
Methods:
We collected the clinical data from university hospitals in South Korea and 194 children and adolescents (aged 7–18 years) completed the questionnaire. The content validity was conducted on 10 items of the DIA and an internal consistency test was performed for the verification of reliability.
Results:
Participants on average, aged 13.17 years (standard deviation=2.46), and 75.3% (n=146) were boys. The DIA was highly correlated with the scores of the Korean scale for Internet addiction for adolescents, Young’s Internet Addiction Test, Internet addiction proneness scale for children and adolescents. The overall sampling suitability of the 10-item scale was tested using the Kaiser–Meyer–Olkin, resulting in a high value of 0.861. The DIA revealed a two-factor structure and the Cronbach’s alpha correlation coefficient for the total scale was 0.806. Confirmatory factor analysis showed an acceptable model fit (root-mean square error of approximation=0.058, comparative fit index=0.950, and Tucker-Lewis Index=0.919).
Conclusion
The DIA may suggest in-depth-scale examinations of the factors that influence Internet addiction. We may expect that DIA would be used efficiently for the diagnosing of Internet addiction and further studies for the assessment.
9.Primary Cholangiocarcinoma of the Liver Presenting as a Complicated Hepatic Cyst: A Diagnostic Challenge
Chang Won HA ; Sang Deok SHIN ; Myung Ji GOH ; Byeong Geun SONG ; Wonseok KANG ; Dong Hyun SINN ; Geum-Youn GWAK ; Yong-Han PAIK ; Moon Seok CHOI ; Joon Hyeok LEE
The Korean Journal of Gastroenterology 2025;85(1):83-88
Primary cholangiocarcinoma is a rare bile duct epithelial neoplasm that can present with atypical clinical manifestations, complicating its diagnosis. A 62-year-old male showed symptoms suggestive of a complicated hepatic cyst that was later identified as intrahepatic cholangiocarcinoma. The patient presented with abdominal discomfort without fever. Imaging revealed a large cystic lesion in the liver. Despite the initial treatment for a presumed abscess, a biopsy confirmed cholangiocarcinoma. This case highlights the diagnostic challenge of distinguishing between benign complicated hepatic cysts and malignancies, particularly when typical markers of infection are absent. Early biopsy and vigilant assessments are crucial in such presentations to avoid a delayed diagnosis and initiate appropriate treatment.
10.Miliary Tuberculosis Initially Presenting as an Isolated Hepatic Abscess
Chang Won HA ; Sang Deok SHIN ; Myung Ji GOH ; Byeong Geun SONG ; Wonseok KANG ; Dong Hyun SINN ; Geum-Youn GWAK ; Yong-Han PAIK ; Moon Seok CHOI ; Joon Hyeok LEE
The Korean Journal of Gastroenterology 2025;85(1):78-82
Hepatic tuberculosis, typically associated with miliary tuberculosis, can occasionally present as localized liver lesions. This case report describes a 77-year-old male presenting with persistent abdominal pain and fever, following an endoscopic retrograde cholangiopancreatography for bile duct sludge removal. Subsequent computed tomography revealed focal liver lesions. Despite initial treatment with antibiotics for a suspected inflammatory liver abscess, his condition did not improve. A liver biopsy was performed, revealing caseous granulomas, and the tuberculosis polymerase chain reaction result was positive. The patient was diagnosed with primary hepatic tuberculosis, which later disseminated. Oral anti-tuberculosis therapy was initiated and is currently being closely monitored. This case emphasizes the importance of considering hepatic tuberculosis in the differential diagnosis of liver lesions, particularly in cases involving cholestatic liver function tests, and persistent symptoms unresponsive to conventional antibiotics.

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