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.The efficacy of therapeutic hypothermia in patients with poor-grade aneurysmal subarachnoid hemorrhage: a systematic review and meta-analysis
Seungjoo LEE ; Moinay KIM ; Min-Yong KWON ; Sae Min KWON ; Young San KO ; Yeongu CHUNG ; Wonhyoung PARK ; Jung Cheol PARK ; Jae Sung AHN ; Hanwool JEON ; Jihyun IM ; Jae Hyun KIM
Acute and Critical Care 2024;39(2):282-293
This study evaluates the effectiveness of Therapeutic Hypothermia (TH) in treating poor-grade aneurysmal subarachnoid hemorrhage (SAH), focusing on functional outcomes, mortality, and complications such as vasospasm, delayed cerebral ischemia (DCI), and hydrocephalus. Methods: Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, a comprehensive literature search was conducted across multiple databases, including Medline, Embase, and Cochrane Central, up to November 2023. Nine studies involving 368 patients were selected based on eligibility criteria focusing on TH in poor-grade SAH patients. Data extraction, bias assessment, and evidence certainty were systematically performed. Results: The primary analysis of unfavorable outcomes in 271 participants showed no significant difference between the TH and standard care groups (risk ratio [RR], 0.87). However, a significant reduction in vasospasm was observed in the TH group (RR, 0.63) among 174 participants. No significant differences were found in DCI, hydrocephalus, and mortality rates in the respective participant groups. Conclusions: TH did not significantly improve primary unfavorable outcomes in poor-grade SAH patients. However, the reduction in vasospasm rates indicates potential specific benefits. The absence of significant findings in other secondary outcomes and mortality highlights the need for further research to better understand TH's role in treating this patient population.
5.The efficacy of therapeutic hypothermia in patients with poor-grade aneurysmal subarachnoid hemorrhage: a systematic review and meta-analysis
Seungjoo LEE ; Moinay KIM ; Min-Yong KWON ; Sae Min KWON ; Young San KO ; Yeongu CHUNG ; Wonhyoung PARK ; Jung Cheol PARK ; Jae Sung AHN ; Hanwool JEON ; Jihyun IM ; Jae Hyun KIM
Acute and Critical Care 2024;39(2):282-293
This study evaluates the effectiveness of Therapeutic Hypothermia (TH) in treating poor-grade aneurysmal subarachnoid hemorrhage (SAH), focusing on functional outcomes, mortality, and complications such as vasospasm, delayed cerebral ischemia (DCI), and hydrocephalus. Methods: Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, a comprehensive literature search was conducted across multiple databases, including Medline, Embase, and Cochrane Central, up to November 2023. Nine studies involving 368 patients were selected based on eligibility criteria focusing on TH in poor-grade SAH patients. Data extraction, bias assessment, and evidence certainty were systematically performed. Results: The primary analysis of unfavorable outcomes in 271 participants showed no significant difference between the TH and standard care groups (risk ratio [RR], 0.87). However, a significant reduction in vasospasm was observed in the TH group (RR, 0.63) among 174 participants. No significant differences were found in DCI, hydrocephalus, and mortality rates in the respective participant groups. Conclusions: TH did not significantly improve primary unfavorable outcomes in poor-grade SAH patients. However, the reduction in vasospasm rates indicates potential specific benefits. The absence of significant findings in other secondary outcomes and mortality highlights the need for further research to better understand TH's role in treating this patient population.
6.The efficacy of therapeutic hypothermia in patients with poor-grade aneurysmal subarachnoid hemorrhage: a systematic review and meta-analysis
Seungjoo LEE ; Moinay KIM ; Min-Yong KWON ; Sae Min KWON ; Young San KO ; Yeongu CHUNG ; Wonhyoung PARK ; Jung Cheol PARK ; Jae Sung AHN ; Hanwool JEON ; Jihyun IM ; Jae Hyun KIM
Acute and Critical Care 2024;39(2):282-293
This study evaluates the effectiveness of Therapeutic Hypothermia (TH) in treating poor-grade aneurysmal subarachnoid hemorrhage (SAH), focusing on functional outcomes, mortality, and complications such as vasospasm, delayed cerebral ischemia (DCI), and hydrocephalus. Methods: Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, a comprehensive literature search was conducted across multiple databases, including Medline, Embase, and Cochrane Central, up to November 2023. Nine studies involving 368 patients were selected based on eligibility criteria focusing on TH in poor-grade SAH patients. Data extraction, bias assessment, and evidence certainty were systematically performed. Results: The primary analysis of unfavorable outcomes in 271 participants showed no significant difference between the TH and standard care groups (risk ratio [RR], 0.87). However, a significant reduction in vasospasm was observed in the TH group (RR, 0.63) among 174 participants. No significant differences were found in DCI, hydrocephalus, and mortality rates in the respective participant groups. Conclusions: TH did not significantly improve primary unfavorable outcomes in poor-grade SAH patients. However, the reduction in vasospasm rates indicates potential specific benefits. The absence of significant findings in other secondary outcomes and mortality highlights the need for further research to better understand TH's role in treating this patient population.
7.The efficacy of therapeutic hypothermia in patients with poor-grade aneurysmal subarachnoid hemorrhage: a systematic review and meta-analysis
Seungjoo LEE ; Moinay KIM ; Min-Yong KWON ; Sae Min KWON ; Young San KO ; Yeongu CHUNG ; Wonhyoung PARK ; Jung Cheol PARK ; Jae Sung AHN ; Hanwool JEON ; Jihyun IM ; Jae Hyun KIM
Acute and Critical Care 2024;39(2):282-293
This study evaluates the effectiveness of Therapeutic Hypothermia (TH) in treating poor-grade aneurysmal subarachnoid hemorrhage (SAH), focusing on functional outcomes, mortality, and complications such as vasospasm, delayed cerebral ischemia (DCI), and hydrocephalus. Methods: Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, a comprehensive literature search was conducted across multiple databases, including Medline, Embase, and Cochrane Central, up to November 2023. Nine studies involving 368 patients were selected based on eligibility criteria focusing on TH in poor-grade SAH patients. Data extraction, bias assessment, and evidence certainty were systematically performed. Results: The primary analysis of unfavorable outcomes in 271 participants showed no significant difference between the TH and standard care groups (risk ratio [RR], 0.87). However, a significant reduction in vasospasm was observed in the TH group (RR, 0.63) among 174 participants. No significant differences were found in DCI, hydrocephalus, and mortality rates in the respective participant groups. Conclusions: TH did not significantly improve primary unfavorable outcomes in poor-grade SAH patients. However, the reduction in vasospasm rates indicates potential specific benefits. The absence of significant findings in other secondary outcomes and mortality highlights the need for further research to better understand TH's role in treating this patient population.
8.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.
9.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.
10.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.

Result Analysis
Print
Save
E-mail