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.Study Design and Protocol for a Randomized Controlled Trial to Assess Long-Term Efficacy and Safety of a Triple Combination of Ezetimibe, Fenofibrate, and Moderate-Intensity Statin in Patients with Type 2 Diabetes and Modifiable Cardiovascular Risk Factors (ENSEMBLE)
Nam Hoon KIM ; Juneyoung LEE ; Suk CHON ; Jae Myung YU ; In-Kyung JEONG ; Soo LIM ; Won Jun KIM ; Keeho SONG ; Ho Chan CHO ; Hea Min YU ; Kyoung-Ah KIM ; Sang Soo KIM ; Soon Hee LEE ; Chong Hwa KIM ; Soo Heon KWAK ; Yong‐ho LEE ; Choon Hee CHUNG ; Sihoon LEE ; Heung Yong JIN ; Jae Hyuk LEE ; Gwanpyo KOH ; Sang-Yong KIM ; Jaetaek KIM ; Ju Hee LEE ; Tae Nyun KIM ; Hyun Jeong JEON ; Ji Hyun LEE ; Jae-Han JEON ; Hye Jin YOO ; Hee Kyung KIM ; Hyeong-Kyu PARK ; Il Seong NAM-GOONG ; Seongbin HONG ; Chul Woo AHN ; Ji Hee YU ; Jong Heon PARK ; Keun-Gyu PARK ; Chan Ho PARK ; Kyong Hye JOUNG ; Ohk-Hyun RYU ; Keun Yong PARK ; Eun-Gyoung HONG ; Bong-Soo CHA ; Kyu Chang WON ; Yoon-Sok CHUNG ; Sin Gon KIM
Endocrinology and Metabolism 2024;39(5):722-731
Background:
Atherogenic dyslipidemia, which is frequently associated with type 2 diabetes (T2D) and insulin resistance, contributes to the development of vascular complications. Statin therapy is the primary approach to dyslipidemia management in T2D, however, the role of non-statin therapy remains unclear. Ezetimibe reduces cholesterol burden by inhibiting intestinal cholesterol absorption. Fibrates lower triglyceride levels and increase high-density lipoprotein cholesterol (HDL-C) levels via peroxisome proliferator- activated receptor alpha agonism. Therefore, when combined, these drugs effectively lower non-HDL-C levels. Despite this, few clinical trials have specifically targeted non-HDL-C, and the efficacy of triple combination therapies, including statins, ezetimibe, and fibrates, has yet to be determined.
Methods:
This is a multicenter, prospective, randomized, open-label, active-comparator controlled trial involving 3,958 eligible participants with T2D, cardiovascular risk factors, and elevated non-HDL-C (≥100 mg/dL). Participants, already on moderate-intensity statins, will be randomly assigned to either Ezefeno (ezetimibe/fenofibrate) addition or statin dose-escalation. The primary end point is the development of a composite of major adverse cardiovascular and diabetic microvascular events over 48 months.
Conclusion
This trial aims to assess whether combining statins, ezetimibe, and fenofibrate is as effective as, or possibly superior to, statin monotherapy intensification in lowering cardiovascular and microvascular disease risk for patients with T2D. This could propose a novel therapeutic approach for managing dyslipidemia in T2D.
5.Nervonic Acid Inhibits Replicative Senescence of Human Wharton’s Jelly-Derived Mesenchymal Stem Cells
Sun Jeong KIM ; Soojin KWON ; Soobeen CHUNG ; Eun Joo LEE ; Sang Eon PARK ; Suk-Joo CHOI ; Soo-Young OH ; Gyu Ha RYU ; Hong Bae JEON ; Jong Wook CHANG
International Journal of Stem Cells 2024;17(1):80-90
Cellular senescence causes cell cycle arrest and promotes permanent cessation of proliferation. Since the senescence of mesenchymal stem cells (MSCs) reduces proliferation and multipotency and increases immunogenicity, aged MSCs are not suitable for cell therapy. Therefore, it is important to inhibit cellular senescence in MSCs. It has recently been reported that metabolites can control aging diseases. Therefore, we aimed to identify novel metabolites that regulate the replicative senescence in MSCs. Using a fecal metabolites library, we identified nervonic acid (NA) as a candidate metabolite for replicative senescence regulation. In replicative senescent MSCs, NA reduced senescence-associated β-galactosidase positive cells, the expression of senescence-related genes, as well as increased stemness and adipogenesis. Moreover, in non-senescent MSCs, NA treatment delayed senescence caused by sequential subculture and promoted proliferation. We confirmed, for the first time, that NA delayed and inhibited cellular senescence.Considering optimal concentration, duration, and timing of drug treatment, NA is a novel potential metabolite that can be used in the development of technologies that regulate cellular senescence.
6.Vessel-Derived Decellularized Extracellular Matrices (VdECM):Novel Bio-Engineered Materials for the Wound Healing
Chae Rim LEE ; Yoon Jae LEE ; Bo Young KWON ; Su Jin LEE ; Yeon Hee RYU ; Jong-Won RHIE ; Suk-Ho MOON
Tissue Engineering and Regenerative Medicine 2023;20(1):59-67
BACKGROUND:
Decellularized extracellular matrix (dECM) is a non-cellular scaffold with various functions in tissue engineering and regenerative medicine. Elastin is related to tissue elasticity and scarless wound healing, abundantly found in lung and blood vessel tissues. We studied the characteristics of blood vessel-derived dECM (VdECM) and its effect in wound healing.
METHODS:
VdECM was prepared from porcine blood vessel tissue. Weight percentages of elastin of VdECM and atelocollagen were analyzed. Migratory potential of VdECM was tested by scratch assay. VdECM in hydrogel form was microscopically examined, tested for fibroblast proliferation, and examined for L/D staining. Cytokine array of various growth factors in adipocyte-derived mesenchymal stem cell (ASC) media with VdECM was done. Animal wound model showed the wound healing effect of VdECM hydrogel in comparison to other topical agents.
RESULTS:
VdECM contained 6.7 times more elastin than atelocollagen per unit weight. Microscopic view of 0.35% VdECM hydrogel showed consistent distribution. Compared to 3% atelocollagen, 0.35% VdECM showed superior results in fibroblast migration. Fluorescent microscopic findings of L/D assay had highest percentage of cell survival in 1% VdECM compared to atelocollagen. Growth factor expression was drastically amplified when VdECM was added to ASC media. In the animal study model, epithelialization rate in the VdECM group was higher than that of control, oxytetracycline, and epidermal growth factor ointments.
CONCLUSION
VdECM contains a high ratio of elastin to collagen and amplifies expressions of many growth factors. It promotes fibroblast migration, proliferation, and survival, and epithelialization comparable to other topical agents.
7.A large and pedunculated inflammatory pseudotumor with pseudosarcomatous change of the cecum mimicking a malignant polyp: a case report and literature review
Jong Suk OH ; Hyung Wook KIM ; Su Bum PARK ; Dae Hwan KANG ; Cheol Woong CHOI ; Su Jin KIM ; Hyeong Seok NAM ; Dae Gon RYU
Clinical Endoscopy 2023;56(1):119-124
Inflammatory pseudotumor (IPT) is a rare benign tumor of unknown etiology that can occur in almost any organ system. It has neoplastic features such as local recurrence, invasive growth, and vascular invasion, leading to the possibility of malignant sarcomatous changes. The clinical presentations of colonic IPT may include abdominal pain, anemia, a palpable mass, and intestinal obstruction. A few cases of colonic IPT have been reported, but colonic IPT with pedunculated morphology is very rare. Furthermore, since it can mimic malignant polyps, understanding the endoscopic findings of colonic IPT is important for proper treatment. Herein, we present a case of colonic IPT with pseudosarcomatous changes, presenting as a large polyp, mimicking a malignant polyp in the cecum, along with a literature review.
8.Early countermeasures to COVID-19 at long-term care facilities in Gwangju Metropolitan City, Republic of Korea
Hye-Jin KIM ; Jieun KIM ; Yoon Suk JANG ; Hanul PARK ; Jong Mu KIM ; Young Joon PARK ; So-Yeon RYU ; Jun Hwi CHO ; So Yeong PARK ; Sang-Eun LEE
Osong Public Health and Research Perspectives 2023;14(1):59-65
Objectives:
The coronavirus disease 2019 (COVID-19) pandemic has continued since its first detection in the Republic of Korea on January 20, 2020. This study describes the early countermeasures used to minimize the risk of COVID-19 outbreaks during cohort quarantine and compares the epidemiological characteristics of 2 outbreaks in long-term care facilities (LTCFs) in Gwangju Metropolitan City in summer 2020.
Methods:
An epidemiological investigation was conducted via direct visits. We investigated epidemiological characteristics, including incidence, morbidity, and mortality rates, for all residents and staff members. Demographic characteristics were analyzed using a statistical program. Additionally, the method of managing infection in LTCFs is described.
Results:
Residents and caregivers had high incidence rates in LTCF-A and LTCF-B, respectively. LTCF-B had a longer quarantine period than LTCF-A. The attack rate was 20.02% in LTCF-A and 27.9% in LTCF- B. The mortality rate was 2.3% (1/43) in LTCF-B, the only facility in which a COVID-19 death occurred.
Conclusion
Extensive management requires contact minimization, which involves testing all contacts to mitigate further transmission in the early stages of LTCF outbreaks. The findings of this study can help inform and prepare public health authorities for COVID-19 outbreaks, particularly for early control in vulnerable facilities.
9.Full mouth rehabilitation of a patient with excessive worn dentition by increasing vertical dimension of occlusion: a case report
Jong Seok LEE ; Ji Suk SHIM ; Jae Jun RYU
The Journal of Korean Academy of Prosthodontics 2023;61(3):234-244
Tooth wear refers to the loss of dental hard tissue caused by various physiological and pathological causes, and excessive pathological wear can cause complications such as pathological changes in dimensions, occlusal disharmony, loss of function, and aesthetic problems. The cause of tooth wear can be caused by attrition, abrasion, corrosion and abfraction, and it is known to act in a multifactorial etiology in interocclusal activity. In patients with excessive pathological wear, it is important to determine whether or not the vertical dimension of occlusion is reduced, and complete oral rehabilitation should be achieved with the adaptation of the neuromuscular and temporomandibular joint through accurate diagnosis and analysis. The patient in this case was a 63-year-old male patient, who presented discomfort to cold beverage due to severe tooth wear. After analysis of the patient’s vertical dimension of occlusion, a full mouth rehabilitation was performed with increasing vertical dimension of occlusion. The goal of treatment was to improve the occlusal plane with the equal-intensity contact of all teeth, harmonious anterior guidance and immediate disclusion of all posterior contacts. After rehabilitation, the patient was satisfied with function and esthetic appearance.
10.Bone Regeneration with 3D-Printed Hybrid Bone Scaffolds in a Canine Radial Bone Defect Model
Yoon Jae LEE ; Yeon Hee RYU ; Su Jin LEE ; Suk-Ho MOON ; Ki Joo KIM ; Byeong Ju JIN ; Kyoung-Don LEE ; Jung Kyu PARK ; Jin Woo LEE ; Seung-Jae LEE ; Hun-Jin JEONG ; Jong Won RHIE
Tissue Engineering and Regenerative Medicine 2022;19(6):1337-1347
BACKGROUND:
The repair of large bone defects remains a significant challenge in clinical practice and requires bone grafts or substitute materials. In this study, we developed a unique hybrid bone scaffold comprising a three dimensional (3D)-printed metal plate for weight bearing and a biodegradable polymer tube serving as bone conduit. We assessed the long-term effect of the hybrid bone scaffold in repairing radial bone defects in a beagle model.
METHODS:
Bone defects were created surgically on the radial bone of three beagle dogs and individually-tailored scaffolds were used for reconstruction with or without injection of autologous bone and decellularized extracellular matrix (dECM). The repaired tissue was evaluated by X-ray, micro-computed tomography, and histological observation 6 months after surgery. The functional integrity of hybrid bone scaffold-mediated reconstructions was assessed by gait analysis.
RESULTS:
In vivo analysis showed that the hybrid bone scaffolds maintained the physical space and bone conductivity around the defect. New bone was formed adjacent to the scaffolds. Addition of autologous bone and dECM in the polymer tube improved healing by enhancing bone induction and osteoconduction. Furthermore, the beagles’ gait appeared normal by 4 months.
CONCLUSION
The future of bone healing and regeneration is closely related to advances in tissue engineering. Bone production using autologous bone and dECM loaded on 3D-printed hybrid bone scaffolds can successfully induce osteogenesis and provide mechanical force for functional bone regeneration, even in large bone defects.

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