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.Effect of Frailty on Depression among Patients with Late-life Depression: A Test of Anger, Anxiety, and Resilience as Mediators
Junhyung KIM ; Hyun-Ghang JEONG ; Moon-Soo LEE ; Chi-Un PAE ; Ashwin A. PATKAR ; Sang Won JEON ; Cheolmin SHIN ; Changsu HAN
Clinical Psychopharmacology and Neuroscience 2024;22(2):253-262
Objective:
While the association between depression and frailty in the elderly population has been investigated, the psychological factors that mediate such a relationship remain unknown. The identification of psychological factors in interventions for depression treatment in the elderly may assist in the treatment and care. We aimed to explore the mediating effects of anger, anxiety, and resilience on the link between frailty and depression symptoms in patients with late-life depression.
Methods:
A sample of 203 older adults completed questionnaires that assessed depression, anger, resilience, and anxiety.To measure frailty, participants were evaluated using a self-rated health questionnaire, weight-adjusted waist index related to sarcopenia, and weight-adjusted handgrip strength to evaluate weakness. A mediation model was tested, hypothesizing that anger, anxiety, and resilience would partially mediate the strength of the frailty-depression link in the elderly.
Results:
Only self-rated health showed a significant association with depressive symptoms in late-life depression. Our study demonstrated that frailty has both direct and indirect associations with depression, mediated by anger, resilience, and anxiety.
Conclusion
Given that anger, resilience, and anxiety influence the link between self-rated health and depression, interventions that lead to increased resilience and decreased anger and anxiety may be promising to reduce depressive symptoms in older adults with depression.
5.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.
6.Analyzing Co-Occurrence of Non-Suicidal Self-Injury With Suicidal Ideation and Related Factors Among Adolescents in Jeju Island
Duk-Soo MOON ; Un-Sun CHUNG ; Young Sook KWACK ; Bung-Nyun KIM ; Na Ri KANG
Journal of the Korean Academy of Child and Adolescent Psychiatry 2024;35(2):119-126
Objectives:
Non-suicidal self-injury (NSSI) and suicidal behavior, including suicidal ideation (SI) and suicide attempts, are important predictors of suicide in adolescents. This study aimed to investigate the associations between NSSI, SI, NSSI+SI, mental health problems, and family factors in Korean adolescents in Jeju Island, with an emphasis on key findings.
Methods:
A total of 561 adolescents completed self-report questionnaires regarding demographics, NSSI, SI, suicidal behavior, perceived family functioning, and mental health problems, which were assessed using Center for Epidemiological Studies Depression Scale for Children, Screen for Children Anxiety-Related Disorders (SCARED), and Youth Self-Report (YSR). Data were analyzed using descriptive statistics, one-way analysis of variance, chi-square test, post-hoc analyses, and multivariate logistic regression.
Results:
In this study, 22.3% of adolescents reported either NSSI or SI, with 5.5% reporting NSSI and 20.7% reporting SI. Combined (NSSI+SI) group showed a significantly higher SCARED score, anxiety/depression, thought problems, attention problem, and rule breaking on YSR than did the SI only group. Higher level of depression and anxiety were significantly associated with NSSI and SI. Female sex and perceived family dissatisfaction were significantly associated factors for SI, but not for NSSI in multivariate logistic regression.
Conclusion
This study provides insights into the clinical characteristics and associated factors among adolescents with NSSI, SI, and NSSI+SI in Jeju Island. Identifying these results can inform the development of targeted prevention and intervention strategies to mitigate the negative consequences of these behaviors and contribute to a better understanding of the role of family in this context.
8.Plasminogen Activator Inhibitor-1: Potential Inflammatory Marker in Late-life Depression
Seung-Hoon LEE ; Cheolmin SHIN ; Young-Hoon KO ; Moon-Soo LEE ; Moon Ho PARK ; Chi-Un PAE ; Ho-Kyoung YOON ; Changsu HAN
Clinical Psychopharmacology and Neuroscience 2023;21(1):147-161
Objective:
Although several previous studies have examined the association between late-life depression and blood adipokine levels, a marker of chronic inflammation, no studies have comprehensively considered the effects of metabolic syndrome, which is known to affect blood adipokine levels. This study examined blood adipokine levels in geriatric depression after adjusting for the effects of metabolic syndrome.
Methods:
Participants were selected from the Ansan Geriatric Study (depression group [n = 76] and control group [n = 76]). Blood concentrations of four adipokines (adiponectin, resistin, neutrophil-gelatinase-associated lipocalin [NGAL], and plasminogen activator inhibitor-1 [PAI-1]) were measured using immunoassays. The effects of blood adipokine concentration on the diagnosis of depression were analyzed using multivariate logistic regression to adjust for the effects of metabolic syndrome and potential confounding factors.
Results:
When the effects of metabolic syndrome and potential confounding factors were adjusted, only PAI-1 could explain the diagnosis of depression among all the adipokines. The depression group showed a lower blood PAI-1 level than the control group. Adiponectin, resistin, and NGAL could not explain the diagnosis of depression when the effects of metabolic syndrome and potential confounding factors were adjusted.
Conclusion
This study suggests the possibility that the blood PAI-1 levels in clinically pathological late-life depression may show contrasting results to those with subclinical depressive symptoms. Additionally, considering that most previous studies have been conducted with pre-geriatric populations, the study suggests the possibility that geriatric depression may show inflammatory changes with patterns that are different from those of depression in the pre-geriatric population.
9.Effects of Token Economy Intervention on Hospitalized Patients With Schizophrenia
Sung-Jin KIM ; Young-Soo SEO ; Kyoung-Duck PARK ; Jung-Joon MOON ; Jae-Hoon JEONG ; Do-Un JUNG
Korean Journal of Schizophrenia Research 2023;26(1):18-23
Objectives:
The purpose of this study was to investigate the effect of token economy intervention on the clinical characteristics and global function of patients with schizophrenia.
Methods:
From June 1, 2022 to September 1, 2022, token economy intervention was conducted for hospitalized patients with schizophrenia in a mental hospital. Assessments were conducted before and after the intervention. Clinical Global Impression-Schizophrenia scale (CGI-SCH), Schizophrenia Quality of Life Scale (SQLS), Insight Scale for Psychosis (ISP), and Apathy Evaluation Scale (AES) were used to evaluate clinical characteristics. World Health Organization Disability Assessment Schedule (WHODAS) was used for global functional assessment.
Results:
A total of 51 patients were included in the study. Through token economy intervention, depressive (p=0.001), cognitive symptom domain scores (p<0.001) in CGI-SCH, and SQLS score were significantly decreased (p=0.044). In the WHODAS evaluated by the clinician, the scores of self-care (p=0.012), life activities (p=0.006), and participation in society (p=0.040) decreased significantly.
Conclusion
It was confirmed that token economy intervention had a positive effect on depressive symptoms, cognitive symptoms, quality of life, self-care function, daily living function, and social participation function in hospitalized patients with schizophrenia.
10.Associations between Nutritional Risk and Mental Health in an Elderly Korean Population
Sung-Jin KIM ; Im-Gyu KIM ; Do-Un JUNG ; Jae-Hong PARK ; Young-Soo SEO ; Jung-Joon MOON ; Dong-Wook JEON
Journal of Korean Geriatric Psychiatry 2020;24(1):28-36
Objective:
:Older adults are at greater risk for malnutrition than younger adults, and malnutrition can be associated with a variety of mental problems. This study was undertaken to investigate differences in mental health indicators according to nutritional risk administered to elderly people living in the community.
Methods:
:Nutritional risk score was assessed using the ‘Determine Your Nutrition Health’ checklist, developed by the Nutritional Screening Initiative. The study enrolled 400 elderly people living in the community. Study subjects were divided into 3 groups based on their nutritional risk score: good nutrition (score ≤2; n=275), moderate nutritional risk (score 3-5; n=63), and high nutritional risk (score ≥6; n=62). The General Health Questionnaire-12 (GHQ-12), suicide risk screening tool, memory decline awareness, sleep disorder questionnaire, and health-related quality of life (EuroQoL-5 dimension, EQ-5D) were used to assess mental health problems. Statistical analyses were performed using chi-square test, analysis of variance, and Pearson correlation analysis.
Results:
:In the high nutrition risk group, GHQ-12 score was highest. In the good nutrition group, subjective memory impairment score and sleep difficulty were lowest, and EQ-5D index was highest. The risk of suicide tended to increase with increasing nutritional risk. Nutritional risk score was significantly correlated with GHQ-12, subjective memory impairment, sleep latency time, total sleep duration, sleep difficulty, and EQ-5D index.
Conclusion
:This study confirms that nutritional risk in the elderly is related to various psychological symptoms and low quality of life. High nutritional risk in the elderly warrants clinical attention to mental health and quality of life.

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