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.IFITM3-mediated activation of TRAF6/MAPK/AP-1pathways induces acquired TKI resistance in clear cell renal cell carcinoma
Se Un JEONG ; Ja-Min PARK ; Sun Young YOON ; Hee Sang HWANG ; Heounjeong GO ; Dong-Myung SHIN ; Hyein JU ; Chang Ohk SUNG ; Jae-Lyun LEE ; Gowun JEONG ; Yong Mee CHO
Investigative and Clinical Urology 2024;65(1):84-93
Purpose:
Vascular endothelial growth factor tyrosine kinase inhibitors (TKIs) have been the standard of care for advanced and metastatic clear cell renal cell carcinoma (ccRCC). However, the therapeutic effect of TKI monotherapy remains unsatisfactory given the high rates of acquired resistance to TKI therapy despite favorable initial tumor response.
Materials and Methods:
To define the TKI-resistance mechanism and identify new therapeutic target for TKI-resistant ccRCC, an integrative differential gene expression analysis was performed using acquired resistant cohort and a public dataset. Sunitinib-resistant RCC cell lines were established and used to test their malignant behaviors of TKI resistance through in vitro and in vivo studies. Immunohistochemistry was conducted to compare expression between the tumor and normal kidney and verify expression of pathway-related proteins.
Results:
Integrated differential gene expression analysis revealed increased interferon-induced transmembrane protein 3 (IFITM3) expression in post-TKI samples. IFITM3 expression was increased in ccRCC compared with the normal kidney. TKI-resistant RCC cells showed high expression of IFITM3 compared with TKI-sensitive cells and displayed aggressive biologic features such as higher proliferative ability, clonogenic survival, migration, and invasion while being treated with sunitinib. These aggressive features were suppressed by the inhibition of IFITM3 expression and promoted by IFITM3 overexpression, and these findings were confirmed in a xenograft model. IFITM3-mediated TKI resistance was associated with the activation of TRAF6 and MAPK/AP-1 pathways.
Conclusions
These results demonstrate IFITM3-mediated activation of the TRAF6/MAPK/AP-1 pathways as a mechanism of acquired TKI resistance, and suggest IFITM3 as a new target for TKI-resistant ccRCC.
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.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..
9.Granular Cell Tumor of the Male Breast With Nipple Retraction and Pectoralis Major Invasion Treated With Mastectomy: A Case Report
Sang Chun PARK ; Yong Bin KWON ; Sang Yun AN ; Hye Un MA ; Seo Won JUNG ; Yong Min NA ; Young Jae RYU ; Hyo Jae LEE ; Hyo Soon LIM ; Ji Shin LEE ; Jin Seong CHO ; Min Ho PARK
Journal of Breast Disease 2024;12(1):19-22
Granular cell tumor is a rare disease, and it is even rarer in the male breast. Although it is typically a benign tumor, due to its features and image findings, it can be easily misdiagnosed and managed as a malignant tumor. Therefore, the extent of the surgery can inappropriately be expanded. To avoid misdiagnosis and overtreatment, surgeons must perform a careful evaluation. We describe a case of a granular cell tumor of the male breast treated with mastectomy.
10.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.

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