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.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.
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.Primary Cutaneous CD30+ Lymphoproliferative Disorders in South Korea: A Nationwide, Multi-Center, Retrospective, Clinical, and Prognostic Study
Woo Jin LEE ; Sook Jung YUN ; Joon Min JUNG ; Joo Yeon KO ; Kwang Ho KIM ; Dong Hyun KIM ; Myung Hwa KIM ; You Chan KIM ; Jung Eun KIM ; Chan-Ho NA ; Je-Ho MUN ; Jong Bin PARK ; Ji-Hye PARK ; Hai-Jin PARK ; Dong Hoon SHIN ; Jeonghyun SHIN ; Sang Ho OH ; Seok-Kweon YUN ; Dongyoun LEE ; Seok-Jong LEE ; Seung Ho LEE ; Young Bok LEE ; Soyun CHO ; Sooyeon CHOI ; Jae Eun CHOI ; Mi Woo LEE ; On behalf of The Korean Society of Dermatopathology
Annals of Dermatology 2025;37(2):75-85
Background:
Primary cutaneous CD30+ lymphoproliferative disorders (pcCD30-LPDs) are a diseases with various clinical and prognostic characteristics.
Objective:
Increasing our knowledge of the clinical characteristics of pcCD30-LPDs and identifying potential prognostic variables in an Asian population.
Methods:
Clinicopathological features and survival data of pcCD30-LPD cases obtained from 22 hospitals in South Korea were examined.
Results:
A total of 413 cases of pcCD30-LPDs (lymphomatoid papulosis [LYP], n=237; primary cutaneous anaplastic large cell lymphoma [C-ALCL], n=176) were included. Ninety percent of LYP patients and roughly 50% of C-ALCL patients presented with multiple skin lesions. Both LYP and C-ALCL affected the lower limbs most frequently. Multiplicity and advanced T stage of LYP lesions were associated with a chronic course longer than 6 months. Clinical morphology with patch lesions and elevated serum lactate dehydrogenase were significantly associated with LPDs during follow-up in LYP patients. Extracutaneous involvement of C-ALCL occurred in 13.2% of patients. Lesions larger than 5 cm and increased serum lactate dehydrogenase were associated with a poor prognosis in C-ALCL. The survival of patients with C-ALCL was unaffected by the anatomical locations of skin lesions or other pathological factors.
Conclusion
The multiplicity or size of skin lesions was associated with a chronic course of LYP and survival among patients with C-ALCL.
5.Stigma Experience and Mental Health of Vulnerable Groups:Focusing on the COVID-19 Period
Sung Moon CHOI ; Jong-Woo PAIK ; Myung Jae PAIK ; Jin Hee HYUN ; Sung Eun YOU ; Ah Rah LEE ; Sang Min LEE
Journal of Korean Neuropsychiatric Association 2024;63(4):225-236
Objectives:
This study explored the stigma and mental health challenges that vulnerable populations faced during COVID-19 using in-depth interviews with 32 participants.
Methods:
A generic qualitative methodology was employed, with data collected via face-to-face and Zoom interviews conducted from March to August 2021.
Results:
Two major themes emerged: the nature of stigmatization and mental health impacts.The participants reported increased exposure to personal information, worsening institutional stigmatization, and routine social exclusion, leading to internalized stigma. They experienced extreme fear, anxiety, depression, hopelessness, suicidal thoughts, and declining physical health.
Conclusion
The results underscore the necessity of a comprehensive mental health support system that integrates psychological interventions, stigma prevention education, anti-stigma initiatives, and customized policies. Future research should investigate the prolonged impact of pandemic-induced stigma and devise effective strategies for support and intervention.
6.Stigma Experience and Mental Health of Vulnerable Groups:Focusing on the COVID-19 Period
Sung Moon CHOI ; Jong-Woo PAIK ; Myung Jae PAIK ; Jin Hee HYUN ; Sung Eun YOU ; Ah Rah LEE ; Sang Min LEE
Journal of Korean Neuropsychiatric Association 2024;63(4):225-236
Objectives:
This study explored the stigma and mental health challenges that vulnerable populations faced during COVID-19 using in-depth interviews with 32 participants.
Methods:
A generic qualitative methodology was employed, with data collected via face-to-face and Zoom interviews conducted from March to August 2021.
Results:
Two major themes emerged: the nature of stigmatization and mental health impacts.The participants reported increased exposure to personal information, worsening institutional stigmatization, and routine social exclusion, leading to internalized stigma. They experienced extreme fear, anxiety, depression, hopelessness, suicidal thoughts, and declining physical health.
Conclusion
The results underscore the necessity of a comprehensive mental health support system that integrates psychological interventions, stigma prevention education, anti-stigma initiatives, and customized policies. Future research should investigate the prolonged impact of pandemic-induced stigma and devise effective strategies for support and intervention.
7.Stigma Experience and Mental Health of Vulnerable Groups:Focusing on the COVID-19 Period
Sung Moon CHOI ; Jong-Woo PAIK ; Myung Jae PAIK ; Jin Hee HYUN ; Sung Eun YOU ; Ah Rah LEE ; Sang Min LEE
Journal of Korean Neuropsychiatric Association 2024;63(4):225-236
Objectives:
This study explored the stigma and mental health challenges that vulnerable populations faced during COVID-19 using in-depth interviews with 32 participants.
Methods:
A generic qualitative methodology was employed, with data collected via face-to-face and Zoom interviews conducted from March to August 2021.
Results:
Two major themes emerged: the nature of stigmatization and mental health impacts.The participants reported increased exposure to personal information, worsening institutional stigmatization, and routine social exclusion, leading to internalized stigma. They experienced extreme fear, anxiety, depression, hopelessness, suicidal thoughts, and declining physical health.
Conclusion
The results underscore the necessity of a comprehensive mental health support system that integrates psychological interventions, stigma prevention education, anti-stigma initiatives, and customized policies. Future research should investigate the prolonged impact of pandemic-induced stigma and devise effective strategies for support and intervention.
8.Stigma Experience and Mental Health of Vulnerable Groups:Focusing on the COVID-19 Period
Sung Moon CHOI ; Jong-Woo PAIK ; Myung Jae PAIK ; Jin Hee HYUN ; Sung Eun YOU ; Ah Rah LEE ; Sang Min LEE
Journal of Korean Neuropsychiatric Association 2024;63(4):225-236
Objectives:
This study explored the stigma and mental health challenges that vulnerable populations faced during COVID-19 using in-depth interviews with 32 participants.
Methods:
A generic qualitative methodology was employed, with data collected via face-to-face and Zoom interviews conducted from March to August 2021.
Results:
Two major themes emerged: the nature of stigmatization and mental health impacts.The participants reported increased exposure to personal information, worsening institutional stigmatization, and routine social exclusion, leading to internalized stigma. They experienced extreme fear, anxiety, depression, hopelessness, suicidal thoughts, and declining physical health.
Conclusion
The results underscore the necessity of a comprehensive mental health support system that integrates psychological interventions, stigma prevention education, anti-stigma initiatives, and customized policies. Future research should investigate the prolonged impact of pandemic-induced stigma and devise effective strategies for support and intervention.
9.Evaluating the Validity and Reliability of the Korean Version of the Scales for Outcomes in Parkinson’s Disease–Cognition
Jinse PARK ; Eungseok OH ; Seong-Beom KOH ; In-Uk SONG ; Tae-Beom AHN ; Sang Jin KIM ; Sang-Myung CHEON ; Yoon-Joong KIM ; Jin Whan CHO ; Hyeo-Il MA ; Mee Young PARK ; Jong Sam BAIK ; Phil Hyu LEE ; Sun Ju CHUNG ; Jong-Min KIM ; Han-Joon KIM ; Young-Hee SUNG ; Do Young KWON ; Jae-Hyeok LEE ; Jee-Young LEE ; Ji Seon KIM ; Ji Young YUN ; Hee Jin KIM ; Jin Yong HONG ; Mi-Jung KIM ; Jinyoung YOUN ; Hui-Jun YANG ; Won Tae YOON ; Sooyeoun YOU ; Kyum-Yil KWON ; Su-Yun LEE ; Younsoo KIM ; Hee-Tae KIM ; Joong-Seok KIM ; Ji-Young KIM
Journal of Movement Disorders 2024;17(3):328-332
Objective:
The Scales for Outcomes in Parkinson’s Disease–Cognition (SCOPA-Cog) was developed to assess cognition in patients with Parkinson’s disease (PD). In this study, we aimed to evaluate the validity and reliability of the Korean version of the SCOPACog (K-SCOPA-Cog).
Methods:
We enrolled 129 PD patients with movement disorders from 31 clinics in South Korea. The original version of the SCOPA-Cog was translated into Korean using the translation-retranslation method. The test–retest method with an intraclass correlation coefficient (ICC) and Cronbach’s alpha coefficient were used to assess reliability. Spearman’s rank correlation analysis with the Montreal Cognitive Assessment-Korean version (MOCA-K) and the Korean Mini-Mental State Examination (K-MMSE) were used to assess concurrent validity.
Results:
The Cronbach’s alpha coefficient was 0.797, and the ICC was 0.887. Spearman’s rank correlation analysis revealed a significant correlation with the K-MMSE and MOCA-K scores (r = 0.546 and r = 0.683, respectively).
Conclusion
Our results demonstrate that the K-SCOPA-Cog has good reliability and validity.
10.Stratification of rate of lymph node metastasis according to risk factors and oncologic outcomes in patients who underwent radical resection for rectal neuroendocrine tumors
Myung Jae JIN ; Sung Sil PARK ; Dong-Eun LEE ; Sung Chan PARK ; Dong Woon LEE ; Kiho YOU ; Hee Jin CHANG ; Chang Won HONG ; Dae Kyung SOHN ; Kyung Su HAN ; Bun KIM ; Byung Chang KIM ; Jae Hwan OH
Annals of Coloproctology 2023;39(6):467-473
Purpose:
Most predictive factors for lymph node metastasis in rectal neuroendocrine tumors (NETs) have been based on local and endoscopic resection. We aimed to evaluate the risk factors for lymph node metastasis in patients who underwent radical resection for rectal NETs and stratify the risk of lymph node metastasis.
Methods:
Sixty-four patients who underwent radical resection for rectal NETs between January 2001 and January 2018 were included. We investigated the risk factors of lymph node metastasis using clinicopathologic data. We also performed a risk stratification for lymph node metastases using the number of previously known risk factors. For oncologic outcomes, the 5-year overall survival and recurrence-free survival were evaluated in both groups.
Results:
Among the patients who underwent radical surgery, 32 (50.0%) had lymph node metastasis and 32 (50.0%) had non–lymph node metastasis. In the multivariable analysis, only the male sex was identified as a risk factor for lymph node metastasis (odds ratio, 3.695; 95% confidence interval, 1.128–12.105; P=0.031). When there were 2 or more known risk factors, the lymph node metastasis rate was significantly higher than when there were one or no risk factors (odds ratio, 3.667; 95% confidence interval, 1.023–13.143; P=0.046). There was also no statistical difference between the 2 groups in 5-year overall survival (P=0.431) and 5-year recurrence-free survival (P=0.144).
Conclusion
We found that the rate of lymph node metastasis increased significantly when the number of known risk factors is 2 or more.

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