1.Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon LEE ; Jin ROH ; Jun Sung PARK ; Islam Oguz TUNCAY ; Wonchul LEE ; Jung-Ah KIM ; Brian Baek-Lok OH ; Jong-Yeon SHIN ; Jeong Seok LEE ; Young Seok JU ; Ryul KIM ; Seongyeol PARK ; Jaemo KOO ; Hansol PARK ; Joonoh LIM ; Erin CONNOLLY-STRONG ; Tae-Hwan KIM ; Yong Won CHOI ; Mi Sun AHN ; Hyun Woo LEE ; Seokhwi KIM ; Jang-Hee KIM ; Minsuk KWON
Cancer Research and Treatment 2025;57(2):350-361
Purpose:
Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:
This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:
TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion
TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.
2.Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon LEE ; Jin ROH ; Jun Sung PARK ; Islam Oguz TUNCAY ; Wonchul LEE ; Jung-Ah KIM ; Brian Baek-Lok OH ; Jong-Yeon SHIN ; Jeong Seok LEE ; Young Seok JU ; Ryul KIM ; Seongyeol PARK ; Jaemo KOO ; Hansol PARK ; Joonoh LIM ; Erin CONNOLLY-STRONG ; Tae-Hwan KIM ; Yong Won CHOI ; Mi Sun AHN ; Hyun Woo LEE ; Seokhwi KIM ; Jang-Hee KIM ; Minsuk KWON
Cancer Research and Treatment 2025;57(2):350-361
Purpose:
Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:
This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:
TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion
TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.
3.Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon LEE ; Jin ROH ; Jun Sung PARK ; Islam Oguz TUNCAY ; Wonchul LEE ; Jung-Ah KIM ; Brian Baek-Lok OH ; Jong-Yeon SHIN ; Jeong Seok LEE ; Young Seok JU ; Ryul KIM ; Seongyeol PARK ; Jaemo KOO ; Hansol PARK ; Joonoh LIM ; Erin CONNOLLY-STRONG ; Tae-Hwan KIM ; Yong Won CHOI ; Mi Sun AHN ; Hyun Woo LEE ; Seokhwi KIM ; Jang-Hee KIM ; Minsuk KWON
Cancer Research and Treatment 2025;57(2):350-361
Purpose:
Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:
This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:
TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion
TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.
4.Safety and Efficacy of Everolimus-Eluting Bioresorbable Vascular Scaffold Versus Second-Generation Drug-Eluting Stents in Real-World Practice
Joo Myung LEE ; Hyun Sung JOH ; Ki Hong CHOI ; David HONG ; Taek Kyu PARK ; Jeong Hoon YANG ; Young Bin SONG ; Jin-Ho CHOI ; Seung-Hyuk CHOI ; Jin-Ok JEONG ; Jong-Young LEE ; Young Jin CHOI ; Jei-Keon CHAE ; Seung-Ho HUR ; Jang-Whan BAE ; Ju-Hyeon OH ; Kook-Jin CHUN ; Hyun-Joong KIM ; Byung Ryul CHO ; Doosup SHIN ; Seung Hun LEE ; Doyeon HWANG ; Hyun-Jong LEE ; Ho-Jun JANG ; Hyun Kuk KIM ; Sang Jin HA ; Eun-Seok SHIN ; Joon-Hyung DOH ; Joo-Yong HAHN ; Hyeon-Cheol GWON ; On behalf of the SMART-REWARD Investigators
Journal of Korean Medical Science 2023;38(5):e34-
Background:
The risk of device thrombosis and device-oriented clinical outcomes with bioresorbable vascular scaffold (BVS) was reported to be significantly higher than with contemporary drug-eluting stents (DESs). However, optimal device implantation may improve clinical outcomes in patients receiving BVS. The current study evaluated mid-term safety and efficacy of Absorb BVS with meticulous device optimization under intravascular imaging guidance.
Methods:
The SMART-REWARD and PERSPECTIVE-PCI registries in Korea prospectively enrolled 390 patients with BVS and 675 patients with DES, respectively. The primary endpoint was target vessel failure (TVF) at 2 years and the secondary major endpoint was patientoriented composite outcome (POCO) at 2 years.
Results:
Patient-level pooled analysis evaluated 1,003 patients (377 patients with BVS and 626 patients with DES). Mean scaffold diameter per lesion was 3.24 ± 0.30 mm in BVS group.Most BVSs were implanted with pre-dilatation (90.9%), intravascular imaging guidance (74.9%), and post-dilatation (73.1%) at proximal to mid segment (81.9%) in target vessel.Patients treated with BVS showed comparable risks of 2-year TVF (2.9% vs. 3.7%, adjusted hazard ratio [HR], 1.283, 95% confidence interval [CI], 0.487–3.378, P = 0.615) and 2-year POCO (4.5% vs. 5.9%, adjusted HR, 1.413, 95% CI, 0.663–3.012,P = 0.370) than those with DES. The rate of 2-year definite or probable device thrombosis (0.3% vs. 0.5%, P = 0.424) was also similar. The sensitivity analyses consistently showed comparable risk of TVF and POCO between the 2 groups.
Conclusion
With meticulous device optimization under imaging guidance and avoidance of implantation in small vessels, BVS showed comparable risks of 2-year TVF and device thrombosis with DES.
5.Corrigendum to “Cyclic Phytosphingosine-1-Phosphate Primed Mesenchymal Stem Cells Ameliorate LPS-Induced Acute Lung Injury in Mice”
Youngheon PARK ; Jimin JANG ; Jooyeon LEE ; Hyosin BAEK ; Jaehyun PARK ; Sang-Ryul CHA ; Se Bi LEE ; Sunghun NA ; Jae-Woo KWON ; Young Jun PARK ; Myeong Jun CHOI ; Kye-Seong KIM ; Seok-Ho HONG ; Se-Ran YANG
International Journal of Stem Cells 2023;16(4):448-449
6.Maintenance of hPSCs under Xeno-Free and Chemically Defined Culture Conditions
Jung Jin LIM ; Hyung Joon KIM ; Byung Ho RHIE ; Man Ryul LEE ; Myeong Jun CHOI ; Seok Ho HONG ; Kye Seong KIM
International Journal of Stem Cells 2019;12(3):484-496
Previously, the majority of human embryonic stem cells and human induced pluripotent stem cells have been derived on feeder layers and chemically undefined medium. Those media components related to feeder cells, or animal products, often greatly affect the consistency of the cell culture. There are clear advantages of a defined, xeno-free, and feeder-free culture system for human pluripotent stem cells (hPSCs) cultures, since consistency in the formulations prevents lot-to-lot variability. Eliminating all non-human components reduces health risks for downstream applications, and those environments reduce potential immunological reactions from stem cells. Therefore, development of feeder-free hPSCs culture systems has been an important focus of hPSCs research. Recently, researchers have established a variety of culture systems in a defined combination, xeno-free matrix and medium that supports the growth and differentiation of hPSCs. Here we described detailed hPSCs culture methods under feeder-free and chemically defined conditions using vitronetin and TeSR-E8 medium including supplement bioactive lysophospholipid for promoting hPSCs proliferation and maintaining stemness.
Animals
;
Cell Culture Techniques
;
Embryonic Stem Cells
;
Extracellular Matrix
;
Feeder Cells
;
Human Embryonic Stem Cells
;
Humans
;
Induced Pluripotent Stem Cells
;
Pluripotent Stem Cells
;
Stem Cells
7.Surgical Outcomes of Radiographically Noninvasive Lung Adenocarcinoma according to Surgical Strategy: Wedge Resection, Segmentectomy, and Lobectomy.
Keong Jun HA ; Jae Kwang YUN ; Geun Dong LEE ; Won Chul CHO ; Se Hoon CHOI ; Hyeong Ryul KIM ; Yong Hee KIM ; Dong Kwan KIM ; Seung Il PARK
The Korean Journal of Thoracic and Cardiovascular Surgery 2018;51(6):376-383
BACKGROUND: The aim of this study was to evaluate the outcomes of surgical resection in patients with radiographically noninvasive lung adenocarcinoma according to the surgical strategy. METHODS: A retrospective study was conducted of 128 patients who underwent pulmonary resection for ground-glass opacity (GGO)–dominant nodules measuring ≤2 cm with a consolidation/tumor ratio ≤0.25 based on computed tomography between 2008 and 2015. The 5-year disease-free survival (DFS) rate and 5-year overall survival (OS) rate were analyzed. RESULTS: Among the 128 patients, wedge resection, segmentectomy, and lobectomy were performed in 40 (31.2%), 22 (17.2%), and 66 patients (51.6%), respectively. No significant differences were found among the groups in the mean size of tumors (p=0.119), the rate of pure-GGO nodules (p=0.814), the consolidation/tumor ratio (p=0.695), or the rate of invasive adenocarcinoma (p=0.378). Centrally located tumors were more common in the lobectomy group (21.2%) than in the wedge resection (0%) or segmentectomy (0%) groups (p=0.001). There were no significant differences in the 5-year DFS rate (100%, 100%, 92.7%, respectively; p=0.76) or 5-year OS rate (100%, 100%, 100%; p=0.223) among the wedge resection, segmentectomy, and lobectomy groups. CONCLUSION: For radiographically noninvasive lung adenocarcinoma measuring ≤2 cm with a consolidation/tumor ratio ≤0.25, wedge resection and segmentectomy could be comparable surgical options to lobectomy.
Adenocarcinoma*
;
Disease-Free Survival
;
Humans
;
Lung*
;
Mastectomy, Segmental*
;
Retrospective Studies
;
Solitary Pulmonary Nodule
;
Thorax
8.The Feasibility of Platelet-Rich Fibrin Matrix Filler in a Nude Mouse Model.
Hyeon Jun JEON ; Dong Kyu KIM ; Jeong Woo LEE ; Kang Young CHOI ; Ho Yun CHUNG ; Byung Chae CHO ; Jun Ho SHIN ; Seung Ryul LEE ; Jung Dug YANG
Archives of Aesthetic Plastic Surgery 2017;23(3):135-142
BACKGROUND: In contrast to fillers made from artificial substances, platelet-rich fibrin matrix (PRFM) filler does not cause hypersensitivity reactions or foreign body reactions. PRFM is also highly accessible in terms of cost. Hence, in this study, the efficacy of PRFM for soft tissue augmentation and volume maintenance was evaluated in an animal experiment. METHODS: Twenty nude mice were injected with hyaluronic acid filler, fibrin glue, PRFM filler, and normal saline (control). The remaining volume was measured 4 times over the course of 8 weeks using the volumetric taping bowl method and magnetic resonance imaging. RESULTS: All nude mice survived and showed no signs of infection, such as erythema or edematous changes, during the study period. Migration of the injected substance was not detected at 2, 4, or 8 weeks after the procedure. The remaining volumes of normal saline at 2, 4, and 8 weeks were 10.50%, 2.00%, and 0.00%; fibrin glue, 20.50%, 9.00%, and 2.50%; hyaluronic acid filler, 82.00%, 35.00%, and 17.33%; and PRFM filler, 70.31%, 26.75%, and 14.37%, respectively. CONCLUSIONS: PRFM filler had a high soft-tissue filling capacity compared with the control. It also showed a similar effect to hyaluronic acid filler. Thus, PRFM filler could be a good alternative for correcting soft-tissue deficits.
Animal Experimentation
;
Animals
;
Cosmetic Techniques
;
Erythema
;
Fibrin Tissue Adhesive
;
Fibrin*
;
Foreign Bodies
;
Hyaluronic Acid
;
Hypersensitivity
;
Magnetic Resonance Imaging
;
Methods
;
Mice
;
Mice, Nude*
;
Platelet-Rich Plasma
9.The First Successful Heart-Lung Transplant in a Korean Child with Humidifier Disinfectant-Associated Interstitial Lung Disease.
Won Kyoung JHANG ; Seong Jong PARK ; Eun LEE ; Song I YANG ; Soo Jong HONG ; Ju Hee SEO ; Hyung Young KIM ; Jeong Jun PARK ; Tae Jin YUN ; Hyeong Ryul KIM ; Yong Hee KIM ; Dong Kwan KIM ; Seung Il PARK ; Sang Oh LEE ; Sang Bum HONG ; Tae Sun SHIM ; In Cheol CHOI ; Jinho YU
Journal of Korean Medical Science 2016;31(5):817-821
From 2006 to 2011, an outbreak of a particular type of childhood interstitial lung disease occurred in Korea. The condition was intractable and progressed to severe respiratory failure, with a high mortality rate. Moreover, in several familial cases, the disease affected young women and children simultaneously. Epidemiologic, animal, and post-interventional studies identified the cause as inhalation of humidifier disinfectants. Here, we report a 4-year-old girl who suffered from severe progressive respiratory failure. She could survive by 100 days of extracorporeal membrane oxygenation support and finally, underwent heart-lung transplantation. This is the first successful pediatric heart-lung transplantation carried out in Korea.
Child, Preschool
;
Disinfectants/toxicity
;
Extracorporeal Membrane Oxygenation
;
Female
;
Humans
;
*Humidifiers
;
Lung/drug effects/pathology
;
Lung Diseases, Interstitial/*chemically induced/pathology/*therapy
;
*Lung Transplantation
;
Republic of Korea
;
Respiratory Rate
;
Retrospective Studies
;
Thorax/diagnostic imaging
;
Tomography, X-Ray Computed
10.Establishment of Efficacy and Safety Assessment of Human Adipose Tissue-Derived Mesenchymal Stem Cells (hATMSCs) in a Nude Rat Femoral Segmental Defect Model.
Hyung Jun CHOI ; Jong Min KIM ; Euna KWON ; Jeong Hwan CHE ; Jae Il LEE ; Seong Ryul CHO ; Sung Keun KANG ; Jeong Chan RA ; Byeong Cheol KANG
Journal of Korean Medical Science 2011;26(4):482-491
Human adipose tissue-derived mesenchymal stem cell (hATMSC) have emerged as a potentially powerful tool for bone repair, but an appropriate evaluation system has not been established. The purpose of this study was to establish a preclinical assessment system to evaluate the efficacy and safety of cell therapies in a nude rat bone defect model. Segmental defects (5 mm) were created in the femoral diaphyses and transplanted with cell media (control), hydroxyapatite/tricalcium phosphate scaffolds (HA/TCP, Group I), hATMSCs (Group II), or three cell-loading density of hATMSC-loaded HA/TCP (Group III-V). Healing response was evaluated by serial radiography, micro-computed tomography and histology at 16 weeks. To address safety-concerns, we conducted a GLP-compliant toxicity study. Scanning electron microscopy studies showed that hATMSCs filled the pores/surfaces of scaffolds in a cell-loading density-dependent manner. We detected significant increases in bone formation in the hATMSC-loaded HA/TCP groups compared with other groups. The amount of new bone formation increased with increases in loaded cell number. In a toxicity study, no significant hATMSC-related changes were found in body weights, clinical signs, hematological/biochemical values, organ weights, or histopathological findings. In conclusion, hATMSCs loaded on HA/TCP enhance the repair of bone defects and was found to be safe under our preclinical efficacy/safety hybrid assessment system.
Adipose Tissue/*cytology
;
Animals
;
Biocompatible Materials/therapeutic use
;
Bone Diseases/pathology/radiography/*therapy
;
Bone Regeneration/physiology
;
Calcium Phosphates/therapeutic use
;
Diaphyses/radiography/surgery/ultrastructure
;
Disease Models, Animal
;
Durapatite/therapeutic use
;
Femur/*pathology/radiography/surgery
;
Humans
;
Male
;
*Mesenchymal Stem Cell Transplantation
;
Mesenchymal Stem Cells/*cytology
;
Rats
;
Rats, Nude
;
Tissue Engineering
;
Tomography, X-Ray Computed
;
Transplantation, Heterologous

Result Analysis
Print
Save
E-mail