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.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
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.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
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.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
7.2024 Korean Society of Myocardial Infarction/National Evidence-Based Healthcare Collaborating Agency Guideline for the Pharmacotherapy of Acute Coronary Syndromes
Hyun Kuk KIM ; Seungeun RYOO ; Seung Hun LEE ; Doyeon HWANG ; Ki Hong CHOI ; Jungeun PARK ; Hyeon-Jeong LEE ; Chang-Hwan YOON ; Jang Hoon LEE ; Joo-Yong HAHN ; Young Joon HONG ; Jin Yong HWANG ; Myung Ho JEONG ; Dong Ah PARK ; Chang-Wook NAM ; Weon KIM
Korean Circulation Journal 2024;54(12):767-793
Many countries have published clinical practice guidelines for appropriate clinical decisions, optimal treatment, and improved clinical outcomes in patients with acute coronary syndrome. Developing guidelines that are specifically tailored to the Korean environment is crucial, considering the treatment system, available medications and medical devices, racial differences, and level of language communication. In 2017, the Korean Society of Myocardial Infarction established a guideline development committee. However, at that time, it was not feasible to develop guidelines, owing to the lack of knowledge and experience in guideline development and the absence of methodology experts. In 2022, the National EvidenceBased Healthcare Collaborating Agency collaborated with a relevant academic association to develop internationally reliable guidelines, with strict adherence to the methodology for evidence-based guideline development. The first Korean acute coronary syndrome guideline starts from the 9 key questions for pharmacotherapy.
8.An Artificial Intelligence-Based Automated Echocardiographic Analysis: Enhancing Efficiency and Prognostic Evaluation in Patients With Revascularized STEMI
Yeonggul JANG ; Hyejung CHOI ; Yeonyee E. YOON ; Jaeik JEON ; Hyejin KIM ; Jiyeon KIM ; Dawun JEONG ; Seongmin HA ; Youngtaek HONG ; Seung-Ah LEE ; Jiesuck PARK ; Wonsuk CHOI ; Hong-Mi CHOI ; In-Chang HWANG ; Goo-Yeong CHO ; Hyuk-Jae CHANG
Korean Circulation Journal 2024;54(11):743-756
Background and Objectives:
Although various cardiac parameters on echocardiography have clinical importance, their measurement by conventional manual methods is time-consuming and subject to variability. We evaluated the feasibility, accuracy, and predictive value of an artificial intelligence (AI)-based automated system for echocardiographic analysis in patients with ST-segment elevation myocardial infarction (STEMI).
Methods:
The AI-based system was developed using a nationwide echocardiographic dataset from five tertiary hospitals, and automatically identified views, then segmented and tracked the left ventricle (LV) and left atrium (LA) to produce volume and strain values. Both conventional manual measurements and AI-based fully automated measurements of the LV ejection fraction and global longitudinal strain, and LA volume index and reservoir strain were performed in 632 patients with STEMI.
Results:
The AI-based system accurately identified necessary views (overall accuracy, 98.5%) and successfully measured LV and LA volumes and strains in all cases in which conventional methods were applicable. Inter-method analysis showed strong correlations between measurement methods, with Pearson coefficients ranging 0.81–0.92 and intraclass correlation coefficients ranging 0.74–0.90. For the prediction of clinical outcomes (composite of all-cause death, re-hospitalization due to heart failure, ventricular arrhythmia, and recurrent myocardial infarction), AI-derived measurements showed predictive value independent of clinical risk factors, comparable to those from conventional manual measurements.
Conclusions
Our fully automated AI-based approach for LV and LA analysis on echocardiography is feasible and provides accurate measurements, comparable to conventional methods, in patients with STEMI, offering a promising solution for comprehensive echocardiographic analysis, reduced workloads, and improved patient care.
9.Guidelines for Antibacterial Treatment of Carbapenem-Resistant Enterobacterales Infections
Se Yoon PARK ; Yae Jee BAEK ; Jung Ho KIM ; Hye SEONG ; Bongyoung KIM ; Yong Chan KIM ; Jin Gu YOON ; Namwoo HEO ; Song Mi MOON ; Young Ah KIM ; Joon Young SONG ; Jun Yong CHOI ; Yoon Soo PARK ; Korean Society for Antimicrobial Therapy
Infection and Chemotherapy 2024;56(3):308-328
This guideline aims to promote the prudent use of antibacterial agents for managing carbapenem-resistant Enterobacterales (CRE) infections in clinical practice in Korea. The general section encompasses recommendations for the management of common CRE infections and diagnostics, whereas each specific section is structured with key questions that are focused on antibacterial agents and disease-specific approaches. This guideline covers both currently available and upcoming antibacterial agents in Korea.
10.2024 Korean Society of Myocardial Infarction/National Evidence-Based Healthcare Collaborating Agency Guideline for the Pharmacotherapy of Acute Coronary Syndromes
Hyun Kuk KIM ; Seungeun RYOO ; Seung Hun LEE ; Doyeon HWANG ; Ki Hong CHOI ; Jungeun PARK ; Hyeon-Jeong LEE ; Chang-Hwan YOON ; Jang Hoon LEE ; Joo-Yong HAHN ; Young Joon HONG ; Jin Yong HWANG ; Myung Ho JEONG ; Dong Ah PARK ; Chang-Wook NAM ; Weon KIM
Korean Circulation Journal 2024;54(12):767-793
Many countries have published clinical practice guidelines for appropriate clinical decisions, optimal treatment, and improved clinical outcomes in patients with acute coronary syndrome. Developing guidelines that are specifically tailored to the Korean environment is crucial, considering the treatment system, available medications and medical devices, racial differences, and level of language communication. In 2017, the Korean Society of Myocardial Infarction established a guideline development committee. However, at that time, it was not feasible to develop guidelines, owing to the lack of knowledge and experience in guideline development and the absence of methodology experts. In 2022, the National EvidenceBased Healthcare Collaborating Agency collaborated with a relevant academic association to develop internationally reliable guidelines, with strict adherence to the methodology for evidence-based guideline development. The first Korean acute coronary syndrome guideline starts from the 9 key questions for pharmacotherapy.

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