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.Visualization of analysis information on emergency patient occurrence location and transfer hospital using geographic information system
Da Som HAN ; Jun Hwi CHO ; Joong Bum MOON ; Taek Geun OHK ; Myoung Cheol SHIN ; Yoon Soo PARK ; Chang-Hwan KIM ; Sun-Hak BAE
Journal of the Korean Society of Emergency Medicine 2023;34(6):540-549
Objective:
Easy-to-understand information on emergency patient transportation and emergency medical resources is required to operate emergency medical resources appropriately. This study evaluated emergency patient transport routes using a geographic information system (GIS) and converted them into visual information to understand the current status of emergency medical resource use in the region.
Methods:
The basic data used in this study were collected from the 119 safety centers in Gangwon-do, South Korea, under the fire-fighting headquarters in Gangwon-do from January 2017 to December 2020. The data were analyzed using the geographic information system and converted to visual information.
Results:
The number of patients with cardiovascular disease, cerebrovascular disease, and traffic accidents was 12,944. Of these, 9,393 patients (72.6%) were transported from Chuncheon city, and 3,551 patients (27.4%) were transported out of Chuncheon city. The number of patients with cardiovascular diseases during the study period was 1,219 (9.4%); 782 patients (64.2%) were transported to the K-EMC (emergency medical center), and 437 patients (35.8%) were transported to the H-EMC. For cerebrovascular disease, 913 patients (7.1%) were transported to the EMC of Chuncheon city, with 585 (64.1%) K-EMC and 328 (35.9%) H-EMC patients. The number of traffic accident patients was 1,266 (9.8%). Five hundred and forty (42.7%) and 726 (57.3%) patients were transported to the K-EMC and H-EMC, respectively.
Conclusion
The adequacy of facilities, equipment, and human resources required to treat cardiac and cerebrovascular diseases in K-EMC and severe trauma in H-EMC needs to be reviewed.
5.Types of emergency patient analyzed using the geographic information system
Ba Woo KANG ; Jun Hwi CHO ; Joong Bum MOON ; Chan Woo PARK ; Myoung Chul SHIN ; Yoon Soo PARK ; Go Eun YANG ; Chang-Hwan KIM ; Sun-Hak BAE ; Taek Geun OHK
Journal of the Korean Society of Emergency Medicine 2021;32(5):432-446
Objective:
Predicting the incidence of emergency patients can be very important for the efficient use of emergency medical resources and the deployment of 119 centers in a pre-hospital setting. The study was conducted to analyze the occurrence of emergency patients using geographic information systems in a pre-hospital setting in Korea.
Methods:
The basic data used in this study were collected from the 119 centers in Chuncheon-si, Korea, under the firefighting headquarters in Gangwon-do from January 2012 to December 2016.
Results:
The total number of patients transferred by 119 paramedics was 72,362. Of these, 9,904 (14.7%) were emergency patients; 519 (0.7%) had cardiovascular diseases; 383 (0.5%) had cerebrovascular diseases; 3,043 (4.2%) were trauma patients; 58,413 (80.7%) were non-emergency patients. The occurrence of emergency diseases was slightly lower in the Hyoja-dong area, and it was slightly higher in the area of the outskirts of the city. The incidence of heart disease was low in the Hyoja-dong and Nam-myeon areas, but the incidence of heart disease was highly observed in other areas. The number of trauma patients was 1,265 (41.6%) in the outskirts of the city, a suburban area, showing a relatively higher incidence than other emerging diseases.
Conclusion
The deployment of ambulances in Chuncheon-si should be carried out considering demographic characteristics and patient occurrence.
6.Aortic Injury during Transforaminal Lumbar Interbody Fusion.
Hee Jin BAE ; Tack Geun CHO ; Chang Hyun KIM ; Ho Kook LEE ; Jae Gon MOON ; Jong Il CHOI
Korean Journal of Spine 2017;14(3):118-120
Aortic injury during transforaminal lumbar interbody fusion (TLIF) is a rare but severe complication. We experienced aortic injury during TLIF at L3–4 with a 59-year-old woman diagnosed with an adjacent segment disease at L3–4. Severe bleeding occurred during disc space expansion, and the blood pressure dropped to 60/40 mmHg. The patient’s vital sign stabilized after compression with gauze and Gelfoam in addition to blood transfusion. The patient was treated with endovascular repair using a percutaneous technique after intertransverse fusion at L3–4 was completed. She recovered and is being followed-up in the outpatient department.
Aneurysm, False
;
Aortic Rupture
;
Blood Pressure
;
Blood Transfusion
;
Endovascular Procedures
;
Female
;
Gelatin Sponge, Absorbable
;
Hemorrhage
;
Humans
;
Intervertebral Disc
;
Intraoperative Complications
;
Middle Aged
;
Outpatients
;
Vital Signs
7.Hepatitis A in Korea from 2011 to 2013: Current Epidemiologic Status and Regional Distribution.
Shinje MOON ; Jun Hee HAN ; Geun Ryang BAE ; Enhi CHO ; Bongyoung KIM
Journal of Korean Medical Science 2016;31(1):67-72
The hepatitis A virus (HAV) has been the leading cause of viral hepatitis in Korea since the 2000s. We aimed to describe the current status and regional differences in hepatitis A incidence. We studied the total number of hepatitis A cases reported to the Korea Centers for Disease Control and Prevention through the National Infectious Diseases Surveillance System between 2011 and 2013. Additionally, National Health Insurance Review and Assessment Service data and national population data from Statistics Korea were used. In total, 7,585 hepatitis A cases were reported; 5,521 (10.9 cases per 100,000 populations), 1,197 (2.3 cases per 100,000 populations), and 867 (1.7 cases per 100,000 populations) in 2011, 2012, and 2013, respectively. Fifty-eight patients were infected outside of the country and 7,527 patients represented autochthonous HAV infection cases. Autochthonous HAV infection occurred more frequently among men than women (4,619 cases, 6.1 cases per 100,000 population vs. 2,908 cases, 3.9 cases per 100,000 population). The incidence rate was higher in the 20-29 yr-old group (2,309 cases, 11.6 cases per 100,000 populations) and 30-39 yr-old group (3,306 cases, 13.6 cases per 100,000 populations). The majority of cases were reported from March to June (53.6%, 4,038/7,527). Geographic analyses revealed a consistently high relative risk (RR) of HAV infection in mid-western regions (2011, RR, 1.25, P=0.019; 2012, RR, 2.53, P<0.001; 2013, RR, 1.86, P<0.001). In summary, we report that hepatitis A incidence has been decreasing gradually from 2011 to 2013 and that some regions show the highest prevalence rates of HAV infection in Korea.
Adolescent
;
Adult
;
Aged
;
Aged, 80 and over
;
Child
;
Databases, Factual
;
Female
;
Hepatitis A/*epidemiology/pathology
;
Humans
;
Incidence
;
Male
;
Middle Aged
;
Republic of Korea/epidemiology
;
Risk
;
Seasons
;
Sex Factors
;
Young Adult
8.Expressions of E-cadherin, Cortactin and MMP-9 in Pseudoepitheliomatous Hyperplasia and Squamous Cell Carcinoma of the Head and Neck: Their Relationships with Clinicopathologic Factors and Prognostic Implication.
Tack Kune YOU ; Kyoung Min KIM ; Sang Jae NOH ; Jun Sang BAE ; Kyu Yun JANG ; Myoung Ja CHUNG ; Woo Sung MOON ; Myoung Jae KANG ; Dong Geun LEE ; Ho Sung PARK
Korean Journal of Pathology 2012;46(4):331-340
BACKGROUND: E-cadherin, cortactin, and matrix metalloproteinase (MMP)-9 have roles in tumor development or progression, but their expression has not been fully investigated in pseudoepitheliomatous hyperplasia (PEH) and squamous cell carcinoma (SCC) of the head and neck. METHODS: We evaluated the immunohistochemical expression of E-cadherin, cortactin, and MMP-9 in 29 cases of PEH and 97 cases of SCC. Additionally, we evaluated their relationship with clinicopathologic factors and prognostic implications in SCC. RESULTS: Thirty-five cases of SCC showed reduced expression of E-cadherin, whereas none of the PEH did. A total of 20 cases and 11 cases of SCC were immunoreactive for cortactin and MMP-9, respectively, whereas none of the PEH did. In SCC, reduced expression of E-cadherin was correlated with cortactin expression and invasion depth. Cortactin expression was correlated with differentiation, T classification, and recurrence and/or metastasis. MMP-9 expression was correlated with invasion depth. Cortactin expression was correlated with poor overall survival and relapse-free survival and it was an independent prognostic factor. CONCLUSIONS: The reduced expression of E-cadherin and the expression of cortactin may be helpful for the differential diagnosis of PEH and SCC. Furthermore, cortactin expression in association with reduced E-cadherin expression is correlated with poor prognosis in SCC.
Cadherins
;
Carcinoma, Squamous Cell
;
Cortactin
;
Diagnosis, Differential
;
Head
;
Head and Neck Neoplasms
;
Hyperplasia
;
Matrix Metalloproteinase 9
;
Neoplasm Metastasis
;
Prognosis
;
Recurrence
9.Expression of CHOP in Squamous Tumor of the Uterine Cervix.
Hyun Hee CHU ; Jun Sang BAE ; Kyoung Min KIM ; Ho Sung PARK ; Dong Hyu CHO ; Kyu Yun JANG ; Woo Sung MOON ; Myoung Jae KANG ; Dong Geun LEE ; Myoung Ja CHUNG
Korean Journal of Pathology 2012;46(5):463-469
BACKGROUND: High-risk human papillomavirus (HR-HPV) infection and abnormal p53 expression are closely involved in carcinogenesis of squamous cell carcinoma (SqCC) of uterine cervix. Recent studies have suggested that virus-induced endoplasmic reticulum (ER) stress modulates various cell survival and cell death signaling pathways. The C/EBP homologous protein (CHOP) is associated with ER stress-mediated apoptosis and is also involved in carcinogenesis of several human cancers. We hypothesized that CHOP is involved in the carcinogenesis of uterine cervical cancer in association with HR-HPV and/or p53. METHODS: Immunohistochemistry was used to analyze CHOP and p53 protein expression of tissue sections from 191 patients with invasive cancer or preinvasive lesions of the uterine cervix (61 cases of SqCC, 66 cases of cervical intraepithelial neoplasia [CIN] III, and 64 cases of CIN I). RESULTS: CHOP was expressed in 59.4% of CIN I, 48.5% of CIN III, and 70.5% of SqCC cases. It was also significantly more frequent in invasive SqCC than in preinvasive lesions (p=0.042). Moreover, CHOP expression significantly correlated with HR-HPV infection and p53 expression (p=0.009 and p=0.038, respectively). CONCLUSIONS: Our results suggest that CHOP is involved in the carcinogenesis of the uterine cervix SqCC via association with HR-HPV and p53.
Apoptosis
;
Carcinoma, Squamous Cell
;
Cell Death
;
Cell Survival
;
Cervical Intraepithelial Neoplasia
;
Cervix Uteri
;
DNA Probes, HPV
;
Endoplasmic Reticulum
;
Female
;
Humans
;
Immunohistochemistry
;
Transcription Factor CHOP
;
Tumor Suppressor Protein p53
;
Uterine Cervical Neoplasms
10.Expression of Cortactin and Focal Adhesion Kinase in Colorectal Adenocarcinoma: Correlation with Clinicopathologic Parameters and Their Prognostic Implication.
Yo Na KIM ; Ji Eun CHOI ; Jun Sang BAE ; Kyu Yun JANG ; Myoung Ja CHUNG ; Woo Sung MOON ; Myoung Jae KANG ; Dong Geun LEE ; Ho Sung PARK
Korean Journal of Pathology 2012;46(5):454-462
BACKGROUND: Cortactin and focal adhesion kinase (FAK) are two important components among actin cross-linking proteins that play a central role in cell migration. METHODS: The aims of this study were to evaluate the expression of cortactin and FAK in normal colorectal mucosa and colorectal adenocarcinoma (CRC) using tissue microarray of 2 mm cores to correlate their expression with other clinicopathological factors and, investigate their prognostic significance. RESULTS: Twenty (9%) and 24 cases (11%) of normal colorectal mucosa were immunoreactive for cortactin and FAK. In addition, 184 (84%) and 133 cases (61%) of CRCs were immunoreactive for cortactin and FAK, respectively. Cortactin expression was associated with histologic differentiation and FAK expression. Cortactin, but not FAK expression was also correlated with poor overall and relapse-free survival and served well as an independent prognostic factor for poor survival. CONCLUSIONS: Cortactin expression, in association with FAK expression, may plays an important role in tumor progression. Furthermore, it may also be a satisfactory biomarker to predict tumor progression and survival in CRC patients.
Actins
;
Adenocarcinoma
;
Calcium Hydroxide
;
Colorectal Neoplasms
;
Cortactin
;
Focal Adhesion Protein-Tyrosine Kinases
;
Focal Adhesions
;
Humans
;
Immunohistochemistry
;
Mucous Membrane
;
Proteins
;
Zinc Oxide

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