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.Radiofrequency Ablation for Recurrent Thyroid Cancers:2025 Korean Society of Thyroid Radiology Guideline
Eun Ju HA ; Min Kyoung LEE ; Jung Hwan BAEK ; Hyun Kyung LIM ; Hye Shin AHN ; Seon Mi BAEK ; Yoon Jung CHOI ; Sae Rom CHUNG ; Ji-hoon KIM ; Jae Ho SHIN ; Ji Ye LEE ; Min Ji HONG ; Hyun Jin KIM ; Leehi JOO ; Soo Yeon HAHN ; So Lyung JUNG ; Chang Yoon LEE ; Jeong Hyun LEE ; Young Hen LEE ; Jeong Seon PARK ; Jung Hee SHIN ; Jin Yong SUNG ; Miyoung CHOI ; Dong Gyu NA ;
Korean Journal of Radiology 2025;26(1):10-28
Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.
4.Radiofrequency Ablation for Recurrent Thyroid Cancers:2025 Korean Society of Thyroid Radiology Guideline
Eun Ju HA ; Min Kyoung LEE ; Jung Hwan BAEK ; Hyun Kyung LIM ; Hye Shin AHN ; Seon Mi BAEK ; Yoon Jung CHOI ; Sae Rom CHUNG ; Ji-hoon KIM ; Jae Ho SHIN ; Ji Ye LEE ; Min Ji HONG ; Hyun Jin KIM ; Leehi JOO ; Soo Yeon HAHN ; So Lyung JUNG ; Chang Yoon LEE ; Jeong Hyun LEE ; Young Hen LEE ; Jeong Seon PARK ; Jung Hee SHIN ; Jin Yong SUNG ; Miyoung CHOI ; Dong Gyu NA ;
Korean Journal of Radiology 2025;26(1):10-28
Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.
5.Observer-Blind Randomized Control Trial for the Effectiveness of Intensive Case Management in Seoul: Clinical and Quality-of-Life Outcomes for Severe Mental Illness
Hye-Young MIN ; Seung-Hee AHN ; Jeung Suk LIM ; Hwa Yeon SEO ; Sung Joon CHO ; Seung Yeon LEE ; Dohhee KIM ; Kihoon YOU ; Hyun Seo CHOI ; Su-Jin YANG ; Jee Eun PARK ; Bong Jin HAHM ; Hae Woo LEE ; Jee Hoon SOHN
Psychiatry Investigation 2025;22(5):513-521
Objective:
In South Korea, there is a significant gap in systematic, evidence-based research on intensive case management (ICM) for individuals with severe mental illness (SMI). This study aims to evaluate the effectiveness of ICM through a randomized controlled trial (RCT) comparing ICM with standard case management (non-ICM).
Methods:
An RCT was conducted to assess the effectiveness of Seoul-intensive case management (S-ICM) vs. non-ICM in individuals with SMI in Seoul. A total of 78 participants were randomly assigned to either the S-ICM group (n=41) or the control group (n=37). Various clinical assessments, including the Brief Psychiatric Rating Scale (BPRS), Montgomery–Åsberg Depression Rating Scale, Health of the Nation Outcome Scale, and Clinical Global Impression-Improvement (CGI-I), along with quality-of-life measures such as the WHO Disability Assessment Schedule, WHO Quality of Life scale, and Multidimensional Scale of Perceived Social Support (MSPSS) were evaluated over a 3-month period. Statistical analyses, including analysis of covariance and logistic regression, were used to determine the effectiveness of S-ICM.
Results:
The S-ICM group had significantly lower odds of self-harm or suicidal attempts compared to the control group (adjusted odds ratio [aOR]=0.30, 95% confidence interval [CI]: 0.21–1.38). Psychiatric symptoms measured by the BPRS and perceived social support measured by the MSPSS significantly improved in the S-ICM group. The S-ICM group also had significantly higher odds of CGI-I compared to the control group (aOR=8.20, 95% CI: 2.66–25.32).
Conclusion
This study provides inaugural evidence on the effectiveness of S-ICM services, supporting their standardization and potential nationwide expansion.
6.Cost-effectiveness of Fractional Flow Reserve Versus Intravascular Ultrasound to Guide Percutaneous Coronary Intervention: Results From the FLAVOUR Study
Doyeon HWANG ; Hea-Lim KIM ; Jane KO ; HyunJin CHOI ; Hanna JEONG ; Sun-ae JANG ; Xinyang HU ; Jeehoon KANG ; Jinlong ZHANG ; Jun JIANG ; Joo-Yong HAHN ; Chang-Wook NAM ; Joon-Hyung DOH ; Bong-Ki LEE ; Weon KIM ; Jinyu HUANG ; Fan JIANG ; Hao ZHOU ; Peng CHEN ; Lijiang TANG ; Wenbing JIANG ; Xiaomin CHEN ; Wenming HE ; Sung Gyun AHN ; Ung KIM ; You-Jeong KI ; Eun-Seok SHIN ; Hyo-Soo KIM ; Seung-Jea TAHK ; JianAn WANG ; Tae-Jin LEE ; Bon-Kwon KOO ;
Korean Circulation Journal 2025;55(1):34-46
Background and Objectives:
The Fractional Flow Reserve and Intravascular UltrasoundGuided Intervention Strategy for Clinical Outcomes in Patients with Intermediate Stenosis (FLAVOUR) trial demonstrated non-inferiority of fractional flow reserve (FFR)-guided percutaneous coronary intervention (PCI) compared with intravascular ultrasound (IVUS)-guided PCI. We sought to investigate the cost-effectiveness of FFR-guided PCI compared to IVUS-guided PCI in Korea.
Methods:
A 2-part cost-effectiveness model, composed of a short-term decision tree model and a long-term Markov model, was developed for patients who underwent PCI to treat intermediate stenosis (40% to 70% stenosis by visual estimation on coronary angiography).The lifetime healthcare costs and quality-adjusted life-years (QALYs) were estimated from the healthcare system perspective. Transition probabilities were mainly referred from the FLAVOUR trial, and healthcare costs were mainly obtained through analysis of Korean National Health Insurance claims data. Health utilities were mainly obtained from the Seattle Angina Questionnaire responses of FLAVOUR trial participants mapped to EQ-5D.
Results:
From the Korean healthcare system perspective, the base-case analysis showed that FFR-guided PCI was 2,451 U.S. dollar lower in lifetime healthcare costs and 0.178 higher in QALYs compared to IVUS-guided PCI. FFR-guided PCI remained more likely to be cost-effective over a wide range of willingness-to-pay thresholds in the probabilistic sensitivity analysis.
Conclusions
Based on the results from the FLAVOUR trial, FFR-guided PCI is projected to decrease lifetime healthcare costs and increase QALYs compared with IVUS-guided PCI in intermediate coronary lesion, and it is a dominant strategy in Korea.
7.Outcomes of Deferring Percutaneous Coronary Intervention Without Physiologic Assessment for Intermediate Coronary Lesions
Jihoon KIM ; Seong-Hoon LIM ; Joo-Yong HAHN ; Jin-Ok JEONG ; Yong Hwan PARK ; Woo Jung CHUN ; Ju Hyeon OH ; Dae Kyoung CHO ; Yu Jeong CHOI ; Eul-Soon IM ; Kyung-Heon WON ; Sung Yun LEE ; Sang-Wook KIM ; Ki Hong CHOI ; Joo Myung LEE ; Taek Kyu PARK ; Jeong Hoon YANG ; Young Bin SONG ; Seung-Hyuk CHOI ; Hyeon-Cheol GWON
Korean Circulation Journal 2025;55(3):185-195
Background and Objectives:
Outcomes of deferring percutaneous coronary intervention (PCI) without invasive physiologic assessment for intermediate coronary lesions is uncertain.We sought to compare long-term outcomes between medical treatment and PCI of intermediate lesions without invasive physiologic assessment.
Methods:
A total of 899 patients with intermediate coronary lesions between 50% and 70% diameter-stenosis were randomized to the conservative group (n=449) or the aggressive group (n=450). For intermediate lesions, PCI was performed in the aggressive group, but was deferred in the conservative group. The primary endpoint was major adverse cardiac events (MACE, a composite of all-cause death, myocardial infarction [MI], or ischemia-driven any revascularization) at 3 years.
Results:
The number of treated lesions per patient was 0.8±0.9 in the conservative group and 1.7±0.9 in the aggressive group (p=0.001). At 3 years, the conservative group had a significantly higher incidence of MACE than the aggressive group (13.8% vs. 9.3%; hazard ratio [HR], 1.49; 95% confidence interval [CI], 1.00–2.21; p=0.049), mainly driven by revascularization of target intermediate lesion (6.5% vs. 1.1%; HR, 5.69; 95% CI, 2.20–14.73;p<0.001). Between 1 and 3 years after the index procedure, compared to the aggressive group, the conservative group had significantly higher incidence of cardiac death or MI (3.2% vs.0.7%; HR, 4.34; 95% CI, 1.24–15.22; p=0.022) and ischemia-driven any revascularization.
Conclusions
For intermediate lesions, medical therapy alone, guided only by angiography, was associated with a higher risk of MACE at 3 years compared with performing PCI, mainly due to increased revascularization.
8.Epidemiology and Functional Outcome of Acute Stroke Patients in Korea Using Nationwide data
Seungmin SHIN ; Young Woo KIM ; Seung Hun SHEEN ; Sukh Que PARK ; Sung-Chul JIN ; Jin Pyeong JEON ; Ji Young LEE ; Boung Chul LEE ; Young Wha LIM ; Gui Ok KIM ; Youg Uk KWON ; Yu Ra LEE ; So Young HAN ; Jae Sang OH
Journal of Korean Neurosurgical Society 2025;68(2):159-176
Objective:
: Korea’s healthcare system and policy promotes early, actively stroke treatment to improve prognosis. This study represents stroke epidemiology and outcomes in Korea.
Methods:
: This study investigated data from the Acute Stroke Assessment Registry. The registry collects data from over 220 hospitals nationwide, focusing on quality stroke service management. Data analysis included patient demographics, stroke severity assessment, and discharge prognosis measurement using standardized scales.
Results:
: Eighty-six thousand five hundred sixty-eight acute stroke patients were collected with demographic and clinical characteristics during 18 months from 2016, 2018, and between 2020 to 2021, focusing on acute subarachnoid hemorrhage (SAH), acute intracerebral hemorrhage (ICH), and acute ischemic stroke. Of these 86568 patients, 8.3% was SAH, 16.3% ICH, and 74.9% ischemic stroke. Trends showed decreasing SAH and increasing ICH cases over the years. 68.3% stroke patients had the clear onset time. 49.6% stroke patients arrived within 4.5 hours of symptom onset, with more patients treated at general hospitals. Good functional outcomes at discharge was obtained with 58.3% of acute stroke patients, 55.9% of SAH patients, 34.6% of ICH patients, and 63.8% of ischemic stroke patients.
Conclusion
: The results showed that ischemic stroke was the most common subtype, followed by ICH and SAH. Prognosis differed among subtypes, with favorable outcomes more common in ischemic stroke and SAH compared to ICH.
9.Epidemiology and Functional Outcome of Acute Stroke Patients in Korea Using Nationwide data
Seungmin SHIN ; Young Woo KIM ; Seung Hun SHEEN ; Sukh Que PARK ; Sung-Chul JIN ; Jin Pyeong JEON ; Ji Young LEE ; Boung Chul LEE ; Young Wha LIM ; Gui Ok KIM ; Youg Uk KWON ; Yu Ra LEE ; So Young HAN ; Jae Sang OH
Journal of Korean Neurosurgical Society 2025;68(2):159-176
Objective:
: Korea’s healthcare system and policy promotes early, actively stroke treatment to improve prognosis. This study represents stroke epidemiology and outcomes in Korea.
Methods:
: This study investigated data from the Acute Stroke Assessment Registry. The registry collects data from over 220 hospitals nationwide, focusing on quality stroke service management. Data analysis included patient demographics, stroke severity assessment, and discharge prognosis measurement using standardized scales.
Results:
: Eighty-six thousand five hundred sixty-eight acute stroke patients were collected with demographic and clinical characteristics during 18 months from 2016, 2018, and between 2020 to 2021, focusing on acute subarachnoid hemorrhage (SAH), acute intracerebral hemorrhage (ICH), and acute ischemic stroke. Of these 86568 patients, 8.3% was SAH, 16.3% ICH, and 74.9% ischemic stroke. Trends showed decreasing SAH and increasing ICH cases over the years. 68.3% stroke patients had the clear onset time. 49.6% stroke patients arrived within 4.5 hours of symptom onset, with more patients treated at general hospitals. Good functional outcomes at discharge was obtained with 58.3% of acute stroke patients, 55.9% of SAH patients, 34.6% of ICH patients, and 63.8% of ischemic stroke patients.
Conclusion
: The results showed that ischemic stroke was the most common subtype, followed by ICH and SAH. Prognosis differed among subtypes, with favorable outcomes more common in ischemic stroke and SAH compared to ICH.
10.Evaluating Rituximab Failure Rates in Neuromyelitis Optica Spectrum Disorder: A Nationwide Real-World Study From South Korea
Su-Hyun KIM ; Ju-Hong MIN ; Sung-Min KIM ; Eun-Jae LEE ; Young-Min LIM ; Ha Young SHIN ; Young Nam KWON ; Eunhee SOHN ; Sooyoung KIM ; Min Su PARK ; Tai-Seung NAM ; Byeol-A YOON ; Jong Kuk KIM ; Kyong Jin SHIN ; Yoo Hwan KIM ; Jin Myoung SEOK ; Jeong Bin BONG ; Sohyeon KIM ; Hung Youl SEOK ; Sun-Young OH ; Ohyun KWON ; Sunyoung KIM ; Sukyoon LEE ; Nam-Hee KIM ; Eun Bin CHO ; Sa-Yoon KANG ; Seong-il OH ; Jong Seok BAE ; Suk-Won AHN ; Ki Hoon KIM ; You-Ri KANG ; Woohee JU ; Seung Ho CHOO ; Yeon Hak CHUNG ; Jae-Won HYUN ; Ho Jin KIM
Journal of Clinical Neurology 2025;21(2):131-136
Background:
and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation.
Methods:
We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months.
Results:
The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections.
Conclusions
This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

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