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.Evaluation of Burnout and Contributing Factors in Imaging Cardiologists in Korea
You-Jung CHOI ; Kang-Un CHOI ; Young-Mee LEE ; Hyun-Jung LEE ; Inki MOON ; Jiwon SEO ; Kyu KIM ; So Ree KIM ; Jihoon KIM ; Hong-Mi CHOI ; Seo-Yeon GWAK ; Minkwan KIM ; Minjeong KIM ; Kyu-Yong KO ; Jin Kyung OH ; Jah Yeon CHOI ; Dong-Hyuk CHO ; On behalf of the Korean Society of Echocardiography Heart Imagers of Tomorrow
Journal of Korean Medical Science 2024;40(5):e21-
Background:
We aimed to examine the prevalence of burnout among imaging cardiologists in Korea and to identify its associated factors.
Methods:
An online survey of imaging cardiologists affiliated with university hospitals in Korea was conducted using SurveyMonkey ® in November 2023. The validated Korean version of the Maslach Burnout Inventory-Human Service Survey was used to assess burnout across three dimensions: emotional exhaustion, depersonalization, and lack of personal accomplishment. Data on demographics, work environment factors, and job satisfaction were collected using structured questionnaires.
Results:
A total of 128 imaging cardiologists (46.1% men; 76.6% aged ≤ 50 years) participated in the survey. Regarding workload, 74.2% of the respondents interpreted over 50 echocardiographic examinations daily, and 53.2% allocated > 5 of 10 working sessions per week to echocardiographic laboratory duties. Burnout levels were high, with a significant proportion of participants experiencing emotional exhaustion (28.1%), depersonalization (63.3%), and a lack of personal accomplishment (92.2%). Younger age (< 50 years) was correlated with higher emotional exhaustion risk, while more research time was protective against burnout in the depersonalization domain. Factors, such as being single, living with family, and specific job satisfaction facets, including uncontrollable workload and value mismatch, were associated with varying levels of burnout risk across different dimensions
Conclusion
Our study underscores the high burnout rates among Korean imaging cardiologists, attributed to factors such as the subjective environment and job satisfaction.Hence, evaluating and supporting cardiologists in terms of individual values and subjective factors are important to effectively prevent burnout..
5.Evaluation of Burnout and Contributing Factors in Imaging Cardiologists in Korea
You-Jung CHOI ; Kang-Un CHOI ; Young-Mee LEE ; Hyun-Jung LEE ; Inki MOON ; Jiwon SEO ; Kyu KIM ; So Ree KIM ; Jihoon KIM ; Hong-Mi CHOI ; Seo-Yeon GWAK ; Minkwan KIM ; Minjeong KIM ; Kyu-Yong KO ; Jin Kyung OH ; Jah Yeon CHOI ; Dong-Hyuk CHO ; On behalf of the Korean Society of Echocardiography Heart Imagers of Tomorrow
Journal of Korean Medical Science 2024;40(5):e21-
Background:
We aimed to examine the prevalence of burnout among imaging cardiologists in Korea and to identify its associated factors.
Methods:
An online survey of imaging cardiologists affiliated with university hospitals in Korea was conducted using SurveyMonkey ® in November 2023. The validated Korean version of the Maslach Burnout Inventory-Human Service Survey was used to assess burnout across three dimensions: emotional exhaustion, depersonalization, and lack of personal accomplishment. Data on demographics, work environment factors, and job satisfaction were collected using structured questionnaires.
Results:
A total of 128 imaging cardiologists (46.1% men; 76.6% aged ≤ 50 years) participated in the survey. Regarding workload, 74.2% of the respondents interpreted over 50 echocardiographic examinations daily, and 53.2% allocated > 5 of 10 working sessions per week to echocardiographic laboratory duties. Burnout levels were high, with a significant proportion of participants experiencing emotional exhaustion (28.1%), depersonalization (63.3%), and a lack of personal accomplishment (92.2%). Younger age (< 50 years) was correlated with higher emotional exhaustion risk, while more research time was protective against burnout in the depersonalization domain. Factors, such as being single, living with family, and specific job satisfaction facets, including uncontrollable workload and value mismatch, were associated with varying levels of burnout risk across different dimensions
Conclusion
Our study underscores the high burnout rates among Korean imaging cardiologists, attributed to factors such as the subjective environment and job satisfaction.Hence, evaluating and supporting cardiologists in terms of individual values and subjective factors are important to effectively prevent burnout..
6.Evaluation of Burnout and Contributing Factors in Imaging Cardiologists in Korea
You-Jung CHOI ; Kang-Un CHOI ; Young-Mee LEE ; Hyun-Jung LEE ; Inki MOON ; Jiwon SEO ; Kyu KIM ; So Ree KIM ; Jihoon KIM ; Hong-Mi CHOI ; Seo-Yeon GWAK ; Minkwan KIM ; Minjeong KIM ; Kyu-Yong KO ; Jin Kyung OH ; Jah Yeon CHOI ; Dong-Hyuk CHO ; On behalf of the Korean Society of Echocardiography Heart Imagers of Tomorrow
Journal of Korean Medical Science 2024;40(5):e21-
Background:
We aimed to examine the prevalence of burnout among imaging cardiologists in Korea and to identify its associated factors.
Methods:
An online survey of imaging cardiologists affiliated with university hospitals in Korea was conducted using SurveyMonkey ® in November 2023. The validated Korean version of the Maslach Burnout Inventory-Human Service Survey was used to assess burnout across three dimensions: emotional exhaustion, depersonalization, and lack of personal accomplishment. Data on demographics, work environment factors, and job satisfaction were collected using structured questionnaires.
Results:
A total of 128 imaging cardiologists (46.1% men; 76.6% aged ≤ 50 years) participated in the survey. Regarding workload, 74.2% of the respondents interpreted over 50 echocardiographic examinations daily, and 53.2% allocated > 5 of 10 working sessions per week to echocardiographic laboratory duties. Burnout levels were high, with a significant proportion of participants experiencing emotional exhaustion (28.1%), depersonalization (63.3%), and a lack of personal accomplishment (92.2%). Younger age (< 50 years) was correlated with higher emotional exhaustion risk, while more research time was protective against burnout in the depersonalization domain. Factors, such as being single, living with family, and specific job satisfaction facets, including uncontrollable workload and value mismatch, were associated with varying levels of burnout risk across different dimensions
Conclusion
Our study underscores the high burnout rates among Korean imaging cardiologists, attributed to factors such as the subjective environment and job satisfaction.Hence, evaluating and supporting cardiologists in terms of individual values and subjective factors are important to effectively prevent burnout..
7.Evaluation of Burnout and Contributing Factors in Imaging Cardiologists in Korea
You-Jung CHOI ; Kang-Un CHOI ; Young-Mee LEE ; Hyun-Jung LEE ; Inki MOON ; Jiwon SEO ; Kyu KIM ; So Ree KIM ; Jihoon KIM ; Hong-Mi CHOI ; Seo-Yeon GWAK ; Minkwan KIM ; Minjeong KIM ; Kyu-Yong KO ; Jin Kyung OH ; Jah Yeon CHOI ; Dong-Hyuk CHO ; On behalf of the Korean Society of Echocardiography Heart Imagers of Tomorrow
Journal of Korean Medical Science 2024;40(5):e21-
Background:
We aimed to examine the prevalence of burnout among imaging cardiologists in Korea and to identify its associated factors.
Methods:
An online survey of imaging cardiologists affiliated with university hospitals in Korea was conducted using SurveyMonkey ® in November 2023. The validated Korean version of the Maslach Burnout Inventory-Human Service Survey was used to assess burnout across three dimensions: emotional exhaustion, depersonalization, and lack of personal accomplishment. Data on demographics, work environment factors, and job satisfaction were collected using structured questionnaires.
Results:
A total of 128 imaging cardiologists (46.1% men; 76.6% aged ≤ 50 years) participated in the survey. Regarding workload, 74.2% of the respondents interpreted over 50 echocardiographic examinations daily, and 53.2% allocated > 5 of 10 working sessions per week to echocardiographic laboratory duties. Burnout levels were high, with a significant proportion of participants experiencing emotional exhaustion (28.1%), depersonalization (63.3%), and a lack of personal accomplishment (92.2%). Younger age (< 50 years) was correlated with higher emotional exhaustion risk, while more research time was protective against burnout in the depersonalization domain. Factors, such as being single, living with family, and specific job satisfaction facets, including uncontrollable workload and value mismatch, were associated with varying levels of burnout risk across different dimensions
Conclusion
Our study underscores the high burnout rates among Korean imaging cardiologists, attributed to factors such as the subjective environment and job satisfaction.Hence, evaluating and supporting cardiologists in terms of individual values and subjective factors are important to effectively prevent burnout..
8.JAK2 Loss Arising From Tumor-SpreadThrough-Air-Spaces (STAS) Promotes Tumor Progression by Suppressing CD8+ T Cells in Lung Adenocarcinoma:A Machine Learning Approach
Soohwan CHOI ; Hyung Suk KIM ; Kyueng-Whan MIN ; Yung-Kyun NOH ; Jeong-Yeon LEE ; Ji-Yong MOON ; Un Suk JUNG ; Mi Jung KWON ; Dong-Hoon KIM ; Byoung Kwan SON ; Jung Soo PYO ; Sun Kyun RO
Journal of Korean Medical Science 2024;39(2):e16-
Background:
Tumor spread through air spaces (STAS) is a recently discovered risk factor for lung adenocarcinoma (LUAD). The aim of this study was to investigate specific genetic alterations and anticancer immune responses related to STAS. By using a machine learning algorithm and drug screening in lung cancer cell lines, we analyzed the effect of Janus kinase 2 (JAK2) on the survival of patients with LUAD and possible drug candidates.
Methods:
This study included 566 patients with LUAD corresponding to clinicopathological and genetic data. For analyses of LUAD, we applied gene set enrichment analysis (GSEA), in silico cytometry, pathway network analysis, in vitro drug screening, and gradient boosting machine (GBM) analysis.
Results:
The patients with STAS had a shorter survival time than those without STAS (P < 0.001). We detected gene set-related downregulation of JAK2 associated with STAS using GSEA. Low JAK2 expression was related to poor prognosis and a low CD8+ T-cell fraction. In GBM, JAK2 showed improved survival prediction performance when it was added to other parameters (T stage, N stage, lymphovascular invasion, pleural invasion, tumor size). In drug screening, mirin, CCT007093, dihydroretenone, and ABT737 suppressed the growth of lung cancer cell lines with low JAK2 expression.
Conclusion
In LUAD, low JAK2 expression linked to the presence of STAS might serve as an unfavorable prognostic factor. A relationship between JAK2 and CD8+ T cells suggests that STAS is indirectly related to the anticancer immune response. These results may contribute to the design of future experimental research and drug development programs for LUAD with STAS.
9.Shifts in Clinical Characteristics, Treatment, and Outcome for Rheumatic Mitral Stenosis: Insights From a 20-Year Multicentre Registry Study in Korea
Hee Jeong LEE ; Iksung CHO ; Dae-Young KIM ; Jang-Won SON ; Kang-Un CHOI ; Seonhwa LEE ; In-Cheol KIM ; Kyu-Yong KO ; Kyung Eun HA ; Seo-Yeon GWAK ; Kyu KIM ; Jiwon SEO ; Hojeong KIM ; Chi Young SHIM ; Jong-Won HA ; Hyungseop KIM ; Geu-Ru HONG ; Jagat NARULA
Journal of Korean Medical Science 2024;39(17):e152-
Background:
The rapid economic development of South Korea provides a unique model to study changes in the clinical characteristics, treatment approaches, and clinical outcomes of patients with rheumatic mitral stenosis (MS) relative to socioeconomic growth.
Methods:
From the Multicenter mitrAl STEnosis with Rheumatic etiology (MASTER) registry, 2,337 patients diagnosed with moderate or severe rheumatic MS between January 2001 and December 2020 were analyzed. Patients were grouped into consecutive 5-year intervals based on their year of diagnosis. Clinical characteristics, echocardiographic data, and clinical outcomes were assessed.
Results:
Over 20 years, the severity of mitral stenosis increased from 79.1% to 90.2%; similarly, the average age at diagnosis increased from 54.3 to 63.0 years (all P < 0.001). Comorbidities such as hypertension and atrial fibrillation increased (6.3% to 29.5% and 41.4% to 46.9%, respectively; all P for trend < 0.05). The rate of mitral intervention within five years after diagnosis increased from 31.2% to 47.4% (P for trend < 0.001). However, clinical outcomes of rheumatic mitral stenosis deteriorated over time in the composite outcomes (log-rank test, P < 0.001). Conversely, the incidence of stroke remained stable (60.6–73.7%; P < 0.001), which might be attributed to the increased use of anticoagulation therapy.
Conclusion
This study observed an increase in patient age, comorbidities, and valve disease severity as the country transitioned from a developing to developed status. Despite a rise in mitral valve interventions, clinical outcomes deteriorated over 20 years, highlighting the need for modified treatment approaches to improve patient outcomes.
10.Artificial intelligence algorithm for neoplastic cell percentage estimation and its application to copy number variation in urinary tract cancer
Jinahn JEONG ; Deokhoon KIM ; Yeon-Mi RYU ; Ja-Min PARK ; Sun Young YOON ; Bokyung AHN ; Gi Hwan KIM ; Se Un JEONG ; Hyun-Jung SUNG ; Yong Il LEE ; Sang-Yeob KIM ; Yong Mee CHO
Journal of Pathology and Translational Medicine 2024;58(5):229-240
Background:
Bladder cancer is characterized by frequent mutations, which provide potential therapeutic targets for most patients. The effectiveness of emerging personalized therapies depends on an accurate molecular diagnosis, for which the accurate estimation of the neoplastic cell percentage (NCP) is a crucial initial step. However, the established method for determining the NCP, manual counting by a pathologist, is time-consuming and not easily executable.
Methods:
To address this, artificial intelligence (AI) models were developed to estimate the NCP using nine convolutional neural networks and the scanned images of 39 cases of urinary tract cancer. The performance of the AI models was compared to that of six pathologists for 119 cases in the validation cohort. The ground truth value was obtained through multiplexed immunofluorescence. The AI model was then applied to 41 cases in the application cohort that underwent next-generation sequencing testing, and its impact on the copy number variation (CNV) was analyzed.
Results:
Each AI model demonstrated high reliability, with intraclass correlation coefficients (ICCs) ranging from 0.82 to 0.88. These values were comparable or better to those of pathologists, whose ICCs ranged from 0.78 to 0.91 in urothelial carcinoma cases, both with and without divergent differentiation/ subtypes. After applying AI-driven NCP, 190 CNV (24.2%) were reclassified with 66 (8.4%) and 78 (9.9%) moved to amplification and loss, respectively, from neutral/minor CNV. The neutral/minor CNV proportion decreased by 6%.
Conclusions
These results suggest that AI models could assist human pathologists in repetitive and cumbersome NCP calculations.

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