1.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
2.Safety and Tolerability of Wharton’s Jelly-Derived Mesenchymal Stem Cells for Patients With Duchenne Muscular Dystrophy: A Phase 1 Clinical Study
Jiwon LEE ; Sang Eon PARK ; Mira KIM ; Hyeongseop KIM ; Jeong-Yi KWON ; Hong Bae JEON ; Jong Wook CHANG ; Jeehun LEE
Journal of Clinical Neurology 2025;21(1):40-52
Background:
and Purpose This study was an open-label, dose-escalation, phase 1 clinical trial to determine the safety and dose of EN001 for patients with Duchenne muscular dystrophy (DMD). EN001, developed by ENCell, are allogeneic early-passage Wharton’s jelly-derived mesenchymal stem cells that originate at the umbilical cord, with preclinical studies demonstrating their high therapeutic efficacy for DMD.
Methods:
This phase 1 clinical trial explored the safety and tolerability of EN001 as a potential treatment option for patients with DMD. Six pediatric participants with DMD were divided into two subgroups of equal size: low-dose EN001 (5.0×105 cells/kg) and high-dose EN001 (2.5×106 cells/kg). All participants were monitored for 12 weeks after EN001 administration to assess its safety. Dose-limiting toxicity (DLT) was evaluated across 2 weeks post administration. Exploratory efficacy was evaluated by measuring serum creatine kinase levels, and functional evaluations—including spirometry, myometry, the North Star Ambulatory Assessment, and the 6-minute walk test—were conducted at week 12 and compared with the baseline values.
Results:
No participants experienced serious adverse events related to EN001 injection during the 12-week follow-up period. Mild adverse events included injection-related local erythema, edema, parosmia, and headache, but DLT was not observed. Functional evaluations at week 12 revealed no significant changes from baseline.
Conclusions
These results demonstrated that EN001 are safe and well tolerated for patients with DMD, and did not cause serious adverse events. The efficacy of EN001 could be confirmed through larger-scale future studies that incorporate repeated dosing and have a randomized controlled trial design.
3.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
4.Safety and Tolerability of Wharton’s Jelly-Derived Mesenchymal Stem Cells for Patients With Duchenne Muscular Dystrophy: A Phase 1 Clinical Study
Jiwon LEE ; Sang Eon PARK ; Mira KIM ; Hyeongseop KIM ; Jeong-Yi KWON ; Hong Bae JEON ; Jong Wook CHANG ; Jeehun LEE
Journal of Clinical Neurology 2025;21(1):40-52
Background:
and Purpose This study was an open-label, dose-escalation, phase 1 clinical trial to determine the safety and dose of EN001 for patients with Duchenne muscular dystrophy (DMD). EN001, developed by ENCell, are allogeneic early-passage Wharton’s jelly-derived mesenchymal stem cells that originate at the umbilical cord, with preclinical studies demonstrating their high therapeutic efficacy for DMD.
Methods:
This phase 1 clinical trial explored the safety and tolerability of EN001 as a potential treatment option for patients with DMD. Six pediatric participants with DMD were divided into two subgroups of equal size: low-dose EN001 (5.0×105 cells/kg) and high-dose EN001 (2.5×106 cells/kg). All participants were monitored for 12 weeks after EN001 administration to assess its safety. Dose-limiting toxicity (DLT) was evaluated across 2 weeks post administration. Exploratory efficacy was evaluated by measuring serum creatine kinase levels, and functional evaluations—including spirometry, myometry, the North Star Ambulatory Assessment, and the 6-minute walk test—were conducted at week 12 and compared with the baseline values.
Results:
No participants experienced serious adverse events related to EN001 injection during the 12-week follow-up period. Mild adverse events included injection-related local erythema, edema, parosmia, and headache, but DLT was not observed. Functional evaluations at week 12 revealed no significant changes from baseline.
Conclusions
These results demonstrated that EN001 are safe and well tolerated for patients with DMD, and did not cause serious adverse events. The efficacy of EN001 could be confirmed through larger-scale future studies that incorporate repeated dosing and have a randomized controlled trial design.
5.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
6.Safety and Tolerability of Wharton’s Jelly-Derived Mesenchymal Stem Cells for Patients With Duchenne Muscular Dystrophy: A Phase 1 Clinical Study
Jiwon LEE ; Sang Eon PARK ; Mira KIM ; Hyeongseop KIM ; Jeong-Yi KWON ; Hong Bae JEON ; Jong Wook CHANG ; Jeehun LEE
Journal of Clinical Neurology 2025;21(1):40-52
Background:
and Purpose This study was an open-label, dose-escalation, phase 1 clinical trial to determine the safety and dose of EN001 for patients with Duchenne muscular dystrophy (DMD). EN001, developed by ENCell, are allogeneic early-passage Wharton’s jelly-derived mesenchymal stem cells that originate at the umbilical cord, with preclinical studies demonstrating their high therapeutic efficacy for DMD.
Methods:
This phase 1 clinical trial explored the safety and tolerability of EN001 as a potential treatment option for patients with DMD. Six pediatric participants with DMD were divided into two subgroups of equal size: low-dose EN001 (5.0×105 cells/kg) and high-dose EN001 (2.5×106 cells/kg). All participants were monitored for 12 weeks after EN001 administration to assess its safety. Dose-limiting toxicity (DLT) was evaluated across 2 weeks post administration. Exploratory efficacy was evaluated by measuring serum creatine kinase levels, and functional evaluations—including spirometry, myometry, the North Star Ambulatory Assessment, and the 6-minute walk test—were conducted at week 12 and compared with the baseline values.
Results:
No participants experienced serious adverse events related to EN001 injection during the 12-week follow-up period. Mild adverse events included injection-related local erythema, edema, parosmia, and headache, but DLT was not observed. Functional evaluations at week 12 revealed no significant changes from baseline.
Conclusions
These results demonstrated that EN001 are safe and well tolerated for patients with DMD, and did not cause serious adverse events. The efficacy of EN001 could be confirmed through larger-scale future studies that incorporate repeated dosing and have a randomized controlled trial design.
7.Impact of the Utilization Gap of the Community-Based Smoking Cessation Programs on the Attempts for Quitting Smoking between Wonju and Chuncheon Citizen
Kyung-Yi DO ; Kwang-Soo LEE ; Jae-Hwan OH ; Ji-Hae PARK ; Yun-Ji JEONG ; Je-Gu KANG ; Sun-Young YOON ; Chun-Bae KIM
Journal of Agricultural Medicine & Community Health 2024;49(1):37-49
Objectives:
This study aimed to explore whether there are differences in smoking status between two regions of Wonju-City and Chuncheon-City, Gangwon State, and to determine whether the experience of smoking cessation programs in the region affects quit attempts.
Methods:
The study design was a cross-sectional study in which adults aged 19 and older living in two cities were surveyed using a pre-developed mobile app to investigate social capital for smoking cessation, and a total of 600 citizens were participated, including 310 in Wonju-City and 290 in Chuncheon-City.The statistical analysis was conducted using chi-square test and logistic regression analysis.
Results:
Wonju-City had a higher prevalence of current smoking than Chuncheon-City. Among smoking cessation programs operated by local public health centers, Wonju-City had a lower odds ratio for experience with smoking cessation education than Chuncheon-City (OR=0.52, 95% CI=0.33 to 0.81). When examining the effect of smoking cessation program experience on quit attempts, in Wonju-City, citizens who had completed smoking cessation education and used a smoking cessation clinic were more likely to attempt to quit than those who had not (OR=2.31 and OR=2.29, respectively). In Chuncheon-City, citizens who were aware of smoking cessation support services were 2.26 times more likely to attempt to quit smoking than those who were not, but statistical significance was not reached due to the small sample size.
Conclusion
Therefore, healthcare organizations in both regions should develop more practical intervention strategies to increase smokers' quit attempts, reduce smoking rates in the community, and address regional disparities.
8.Impact of the Utilization Gap of the Community-Based Smoking Cessation Programs on the Attempts for Quitting Smoking between Wonju and Chuncheon Citizen
Kyung-Yi DO ; Kwang-Soo LEE ; Jae-Hwan OH ; Ji-Hae PARK ; Yun-Ji JEONG ; Je-Gu KANG ; Sun-Young YOON ; Chun-Bae KIM
Journal of Agricultural Medicine & Community Health 2024;49(1):37-49
Objectives:
This study aimed to explore whether there are differences in smoking status between two regions of Wonju-City and Chuncheon-City, Gangwon State, and to determine whether the experience of smoking cessation programs in the region affects quit attempts.
Methods:
The study design was a cross-sectional study in which adults aged 19 and older living in two cities were surveyed using a pre-developed mobile app to investigate social capital for smoking cessation, and a total of 600 citizens were participated, including 310 in Wonju-City and 290 in Chuncheon-City.The statistical analysis was conducted using chi-square test and logistic regression analysis.
Results:
Wonju-City had a higher prevalence of current smoking than Chuncheon-City. Among smoking cessation programs operated by local public health centers, Wonju-City had a lower odds ratio for experience with smoking cessation education than Chuncheon-City (OR=0.52, 95% CI=0.33 to 0.81). When examining the effect of smoking cessation program experience on quit attempts, in Wonju-City, citizens who had completed smoking cessation education and used a smoking cessation clinic were more likely to attempt to quit than those who had not (OR=2.31 and OR=2.29, respectively). In Chuncheon-City, citizens who were aware of smoking cessation support services were 2.26 times more likely to attempt to quit smoking than those who were not, but statistical significance was not reached due to the small sample size.
Conclusion
Therefore, healthcare organizations in both regions should develop more practical intervention strategies to increase smokers' quit attempts, reduce smoking rates in the community, and address regional disparities.
9.Impact of the Utilization Gap of the Community-Based Smoking Cessation Programs on the Attempts for Quitting Smoking between Wonju and Chuncheon Citizen
Kyung-Yi DO ; Kwang-Soo LEE ; Jae-Hwan OH ; Ji-Hae PARK ; Yun-Ji JEONG ; Je-Gu KANG ; Sun-Young YOON ; Chun-Bae KIM
Journal of Agricultural Medicine & Community Health 2024;49(1):37-49
Objectives:
This study aimed to explore whether there are differences in smoking status between two regions of Wonju-City and Chuncheon-City, Gangwon State, and to determine whether the experience of smoking cessation programs in the region affects quit attempts.
Methods:
The study design was a cross-sectional study in which adults aged 19 and older living in two cities were surveyed using a pre-developed mobile app to investigate social capital for smoking cessation, and a total of 600 citizens were participated, including 310 in Wonju-City and 290 in Chuncheon-City.The statistical analysis was conducted using chi-square test and logistic regression analysis.
Results:
Wonju-City had a higher prevalence of current smoking than Chuncheon-City. Among smoking cessation programs operated by local public health centers, Wonju-City had a lower odds ratio for experience with smoking cessation education than Chuncheon-City (OR=0.52, 95% CI=0.33 to 0.81). When examining the effect of smoking cessation program experience on quit attempts, in Wonju-City, citizens who had completed smoking cessation education and used a smoking cessation clinic were more likely to attempt to quit than those who had not (OR=2.31 and OR=2.29, respectively). In Chuncheon-City, citizens who were aware of smoking cessation support services were 2.26 times more likely to attempt to quit smoking than those who were not, but statistical significance was not reached due to the small sample size.
Conclusion
Therefore, healthcare organizations in both regions should develop more practical intervention strategies to increase smokers' quit attempts, reduce smoking rates in the community, and address regional disparities.
10.Outcomes in Refractory Diffuse Large B-Cell Lymphoma: Results from Two Prospective Korean Cohorts
Jun Ho YI ; Seong Hyun JEONG ; Seok Jin KIM ; Dok Hyun YOON ; Hye Jin KANG ; Youngil KOH ; Jin Seok KIM ; Won-Sik LEE ; Deok-Hwan YANG ; Young Rok DO ; Min Kyoung KIM ; Kwai Han YOO ; Yoon Seok CHOI ; Whan Jung YUN ; Yong PARK ; Jae-Cheol JO ; Hyeon-Seok EOM ; Jae-Yong KWAK ; Ho-Jin SHIN ; Byeong Bae PARK ; Seong Yoon YI ; Ji-Hyun KWON ; Sung Yong OH ; Hyo Jung KIM ; Byeong Seok SOHN ; Jong Ho WON ; Dae-Sik HONG ; Ho-Sup LEE ; Gyeong-Won LEE ; Cheolwon SUH ; Won Seog KIM
Cancer Research and Treatment 2023;55(1):325-333
Purpose:
Diffuse large B-cell lymphoma (DLBCL) is the most common hematologic malignancy worldwide. Although substantial improvement has been achieved by the frontline rituximab-based chemoimmunotherapy, up to 40%-50% of patients will eventually have relapsed or refractory disease, whose prognosis is extremely dismal.
Materials and Methods:
We have carried out two prospective cohort studies that include over 1,500 DLBCL patients treated with rituximab plus CHOP (#NCT01202448 and #NCT02474550). In the current report, we describe the outcomes of refractory DLBCL patients. Patients were defined to have refractory DLBCL if they met one of the followings, not achieving at least partial response after 4 or more cycles of R-CHOP; not achieving at least partial response after 2 or more cycles of salvage therapy; progressive disease within 12 months after autologous stem cell transplantation.
Results:
Among 1,581 patients, a total of 260 patients met the criteria for the refractory disease after a median time to progression of 9.1 months. The objective response rate of salvage treatment was 26.4%, and the complete response rate was 9.6%. The median overall survival (OS) was 7.5 months (95% confidence interval, 6.4 to 8.6), and the 2-year survival rate was 22.1%±2.8%. The median OS for each refractory category was not significantly different (p=0.529).
Conclusion
In line with the previous studies, the outcomes of refractory DLBCL patients were extremely poor, which necessitates novel approaches for this population.

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