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.Predictability of the emergency department triage system during the COVID-19 pandemic
Se Young OH ; Ji Hwan LEE ; Min Joung KIM ; Dong Ryul KO ; Hyun Soo CHUNG ; Incheol PARK ; Jinwoo MYUNG
Clinical and Experimental Emergency Medicine 2024;11(2):195-204
Emergency department (ED) triage systems are used to classify the severity and urgency of emergency patients, and Korean medical institutions use the Korean Triage and Acuity Scale (KTAS). During the COVID-19 pandemic, appropriate treatment for emergency patients was delayed due to various circumstances, such as overcrowding of EDs, lack of medical workforce resources, and increased workload on medical staff. The purpose of this study was to evaluate the accuracy of the KTAS in predicting the urgency of emergency patients during the COVID-19 pandemic. Methods This study retrospectively reviewed patients who were treated in the ED during the pandemic period from January 2020 to June 2021. Patients were divided into COVID-19–screening negative (SN) and COVID-19–screening positive (SP) groups. We compared the predictability of the KTAS for urgent patients between the two groups. Results From a total of 107,480 patients, 62,776 patients (58.4%) were included in the SN group and 44,704 (41.6%) were included in the SP group. The odds ratios for severity variables at each KTAS level revealed a more evident discriminatory power of the KTAS for severity variables in the SN group (P<0.001). The predictability of the KTAS for severity variables was higher in the SN group than in the SP group (area under the curve, P<0.001). Conclusion During the pandemic, the KTAS had low accuracy in predicting patients in critical condition in the ED. Therefore, in future pandemic periods, supplementation of the current ED triage system should be considered in order to accurately classify the severity of patients.
5.Corrigendum: Korean treatment recommendations for patients with axial spondyloarthritis
Mi Ryoung SEO ; Jina YEO ; Jun Won PARK ; Yeon-Ah LEE ; Ju Ho LEE ; Eun Ha KANG ; Seon Mi JI ; Seong-Ryul KWON ; Seong-Kyu KIM ; Tae-Jong KIM ; Tae-Hwan KIM ; Hye Won KIM ; Min-Chan PARK ; Kichul SHIN ; Sang-Hoon LEE ; Eun Young LEE ; Hoon Suk CHA ; Seung Cheol SHIM ; Youngim YOON ; Seung Ho LEE ; Jun Hong LIM ; Han Joo BAEK ;
Journal of Rheumatic Diseases 2024;31(1):62-63
6.Korean treatment recommendations for patients with axial spondyloarthritis
Mi Ryoung SEO ; Jina YEO ; Jun Won PARK ; Yeon-Ah LEE ; Ju Ho LEE ; Eun Ha KANG ; Seon Mi JI ; Seong-Ryul KWON ; Seong-Kyu KIM ; Tae-Jong KIM ; Tae-Hwan KIM ; Hye Won KIM ; Min-Chan PARK ; Kichul SHIN ; Sang-Hoon LEE ; Eun Young LEE ; Hoon Suk CHA ; Seung Cheol SHIM ; Youngim YOON ; Seung Ho LEE ; Jun Hong LIM ; Han Joo BAEK ;
The Korean Journal of Internal Medicine 2024;39(1):200-200
7.Outcomes of Surgical and Endovascular Treatment for Cephalic Arch Stenosis in Proximal Arteriovenous Fistula
Young Ryul PARK ; Ji Hyun JUNG ; Deokbi HWANG ; Woo-Sung YUN ; Seung HUH ; Hyung-Kee KIM
Vascular Specialist International 2024;40(2):13-
Purpose:
The cephalic arch is a significant site of stenosis in proximal arteriovenous fistulas (AVFs) that contributes to access dysfunction and thrombosis. This study aimed to evaluate the outcomes of surgical treatment (ST) and endovascular treatment (ET) for cephalic arch stenosis (CAS).
Materials and Methods:
A total of 62 patients with proximal AVF who underwent CAS revision using either ST or ET were enrolled between January 2018 and March 2023. In the ET group, only the initial ET following AVF formation was considered, to mitigate bias. In the ST group, central transposition of the native AVF (transposition group) or interposition of the prosthetic graft into the proximal basilic or axillary vein (interposition group) was performed. We evaluated primary and functional patency based on these groups and calculated the number of patency loss events after CAS treatment.
Results:
Of the 62 patients, 38 (61%) were male, with a mean age of 66.4 years. ST was performed in 26 (42%) patients, including transposition in 16 and interposition in 10, whereas ET was administered to 36 patients during the study period.Among the ST recipients, 42% had a history of ET for CAS. The incidence of AVF thrombosis was marginally higher in the ST group than in the ET group (39% vs.19%, P=0.098). The primary patency rates at 6 months, 1 year, and 3 years were 87%, 87%, and 66% in the transposition group; 45%, 23%, and 11% in the interposition group; and 66%, 49%, and 17% in the ET group, respectively. Notably, the primary patency of the transposition group was significantly higher than that of the interposition (P=0.001) and ET groups (P=0.016). The frequency of patency loss events per person-year after the initial revision was 0.40, 0.52, and 1.42 in the transposition, interposition, and ET groups, respectively.
Conclusion
Transposition exhibited the most favorable primary patency rate and the lowest number of subsequent patency loss events during follow-up despite the higher rates of AVF thrombosis and previous ET at presentation. Consequently, transposition should be actively considered in eligible patients with CAS.
8.Korean treatment recommendations for patients with axial spondyloarthritis
Mi Ryoung SEO ; Jina YEO ; Jun Won PARK ; Yeon-Ah LEE ; Ju Ho LEE ; Eun Ha KANG ; Seon Mi JI ; Seong-Ryul KWON ; Seong-Kyu KIM ; Tae-Jong KIM ; Tae-Hwan KIM ; Hye Won KIM ; Min-Chan PARK ; Kichul SHIN ; Sang-Hoon LEE ; Eun Young LEE ; Hoon Suk CHA ; Seung Cheol SHIM ; Youngim YOON ; Seung Ho LEE ; Jun Hong LIM ; Han Joo BAEK ;
Journal of Rheumatic Diseases 2023;30(3):151-169
We aimed to develop evidence-based recommendations for treating axial spondylarthritis (axSpA) in Korea. The development committee was constructed, key clinical questions were determined, and the evidence was searched through online databases including MEDLINE, Embase, Cochrane, KoreaMed, and KMbase. Systematic literature reviews were conducted, quality of evidence was determined, and draft recommendations were formulated according to the Grading of Recommendations Assessment, Development, and Evaluations methodology. Recommendations that reached 80% consensus among a voting panel were finalized. Three principles and 21 recommendations were determined. Recommendations 1 and 2 pertain to treatment strategies, regular disease status assessment, and rheumatologist-steered multidisciplinary management. Recommendations 3 and 4 strongly recommend patient education, exercise, and smoking cessation. Recommendations 5~12 address pharmacological treatment of active disease using nonsteroidal anti-inflammatory drugs, glucocorticoids, sulfasalazine, biologics, and Janus kinase inhibitors.Recommendations 13~16 address treatment in stable disease. We suggest against spa and acupuncture as therapies (Recommendation 17). Recommendations 18 and 19 pertain to total hip arthroplasty and spinal surgery. Monitoring of comorbidities and drug toxicities are recommended (Recommendations 20 and 21). Recommendations for axSpA treatment in a Korean context were developed based on comprehensive clinical questions and evidence. These are intended to guide best practice in the treatment of axSpA.
9.Comparison of Functional and Cosmetic Outcomes According to Fracture Level in Gartland Type III Pediatric Supracondylar Humerus Fractures
Moon Seok PARK ; Jung Ryul KIM ; Ki Hyuk SUNG ; Young Jae MOON ; Seung Cheol LEE ; Sung Il WANG
Clinics in Orthopedic Surgery 2023;15(4):668-677
Background:
Supracondylar humerus (SCH) fractures in children have been traditionally categorized according to the Wilkins-modified Gartland classification scheme, which is solely based on the degree of displacement. As this classification does not consider fracture patterns in the coronal or sagittal plane, the relationship between the fracture pattern and prognosis in SCH fractures remains unclear.Therefore, the purpose of this study was to evaluate the relationship between the fracture level and prognosis of pediatric SCH fractures.
Methods:
Medical records and radiographs of 786 patients with SCH fractures who underwent surgical treatment between March 2004 and December 2017 were reviewed. A total of 192 patients were included in this study. Anteroposterior elbow radiographs taken at the time of injury were evaluated to obtain the level of fracture. Functional outcomes were evaluated based on modified Flynn grading at the last follow-up.
Results:
Of 192 patients included in this study, 24 (12.1%), 148 (74.8%), and 20 (10.1%) had fractures in zone 1 (metaphyseal-diaphyseal area), zone 2 (between zones 1 and 3), and zone 3 (metaphyseal-epiphyseal area), respectively. There were significant differences in age at the time of injury (p = 0.011), direction of fracture displacement (p = 0.014), and loss of carrying angle (p < 0.001) between fractures in zone 3 and those in zone 1 or zone 2. Zone 3 fractures and classic zone 2 fractures also showed significant difference in outcomes, with zone 3 fractures having more unsatisfactory outcome than classic zone 2 fractures (p = 0.049).
Conclusions
For SCH fractures, varus deformity of the elbow was more common in zone 3 (metaphyseal-epiphyseal area) than in the other zones. Thus, pediatric orthopedic surgeons should be mindful of the possibility of cubitus varus deformity when treating SCH fractures in zone 3. A thorough postoperative follow-up is required.
10.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

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