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.Korean Thyroid Association Management Guidelines for Patients with Thyroid Nodules 2024
Young Joo PARK ; Eun Kyung LEE ; Young Shin SONG ; Su Hwan KANG ; Bon Seok KOO ; Sun Wook KIM ; Dong Gyu NA ; Seung-Kuk BAEK ; So Won OH ; Min Kyoung LEE ; Sang-Woo LEE ; Young Ah LEE ; Yong Sang LEE ; Ji Ye LEE ; Dong-Jun LIM ; Leehi JOO ; Yuh-Seog JUNG ; Chan Kwon JUNG ; Yoon Young CHO ; Yun Jae CHUNG ; Won Bae KIM ; Ka Hee YI ; Ho-Cheol KANG ; Do Joon PARK
International Journal of Thyroidology 2024;17(1):208-244
Thyroid nodules represent a prevalent condition that is detectable via palpation or ultrasound. In recent years, there has been a paradigm shift toward enhanced diagnostic precision and less aggressive therapeutic approaches, highlighting the growing necessity for tailored clinical recommendations to optimize patient outcomes. The Korean Thyroid Association (KTA) has developed guidelines for managing patients with thyroid nodules, following a comprehensive review by task force members of the relevant literature identified via electronic database searches. The recommendations are provided with a level of recommendation for each section. The guidelines encompass thyroid cancer screening in high-risk groups, appropriate diagnostic methods for thyroid nodules, role of pathologic and molecular marker testing in making a diagnosis, long-term follow-up and treatment of benign thyroid nodules, and special considerations for pregnant women. The major revisions that were made in the 2023 guidelines were the definition of high-risk groups for thyroid cancer screening, application of the revised Korean Thyroid Imaging Reporting and Data System (K-TIRADS), addition of the role of core needle biopsy and molecular marker tests, application of active surveillance in patients with low-risk papillary thyroid microcarcinoma, and updated indications for nonsurgical treatment of benign thyroid nodules. In the 2024 revision of the KTA guidelines for thyroid cancer, the evidence for some recommendations has been updated to address the tumor size in the context of active surveillance in patients with low-risk thyroid cancer and the surgical size cutoff. These evidence-based recommendations serve to inform clinical decision-making in the management of thyroid nodules, thereby facilitating the delivery of optimal and efficacious treatments to patients.
5.2023 Korean Thyroid Association Management Guidelines for Patients with Thyroid Nodules
Young Joo PARK ; Eun Kyung LEE ; Young Shin SONG ; Soo Hwan KANG ; Bon Seok KOO ; Sun Wook KIM ; Dong Gyu NA ; Seung-Kuk BAEK ; So Won OH ; Min Kyoung LEE ; Sang-Woo LEE ; Young Ah LEE ; Yong Sang LEE ; Ji Ye LEE ; Dong-Jun LIM ; Leehi JOO ; Yuh-Seog JUNG ; Chan Kwon JUNG ; Yoon Young CHO ; Yun Jae CHUNG ; Won Bae KIM ; Ka Hee YI ; Ho-Cheol KANG ; Do Joon PARK
International Journal of Thyroidology 2023;16(1):1-31
Thyroid nodules are a prevalent condition that can be detected through palpation or ultrasound. However, a small fraction of these nodules can be cancerous, and even benign nodules can cause symptoms if they grow and compress surrounding tissue. As such, it is important to monitor thyroid nodules and determine appropriate treatment options. In recent years, there has been a shift towards enhancing diagnostic accuracy and less aggressive treatment options. As a result, there is a growing need for the development of appropriate recommendations for their clinical application to ensure optimal patient outcomes. The present clinical practice guideline was developed by extracting the nodule section from the prior version of guidelines and updating it to fit the Korean circumstances. Task force members reviewed relevant studies selected after electronic database searching, and the recommendations are provided with a level of recommendation for each section. The revised guideline includes recommendations for thyroid cancer screening in high-risk groups, appropriate diagnostic methods for thyroid nodules, the role of pathological and molecular marker tests in diagnosis, long-term follow-up and treatment of benign thyroid nodules, and special considerations for pregnant women. The major changes in this revision are the definition of high-risk groups for thyroid cancer screening, the application of the revised Korean Thyroid Imaging Reporting and Data System (K-TIRADS), the addition of the role of core needle biopsy and molecular marker tests, the application of active surveillance in low-risk papillary thyroid microcarcinoma, and updated indications for non-surgical treatment of benign thyroid nodules. These evidence-based recommendations are expected to assist in clinical decision-making for thyroid nodule management, ensuring that patients receive the most appropriate and effective treatment options.
6.Surgical Outcomes of Hammer-Chisel and Drill Techniques to Create Superior Bony Ostium During Endoscopic Dacryocystorhinostomy
Hye Jin LEE ; Jun Ho OH ; Yong Koo KANG ; Dai Woo KIM ; Byeong Jae SON
Journal of the Korean Ophthalmological Society 2023;64(12):1127-1135
Purpose:
We introduce a “cold steel” hammer-chisel technique for endoscopic dacryocystorhinostomy, then compare postoperative outcomes between this technique and a drill technique.
Methods:
This study included 191 patients (297 eyes) with nasolacrimal duct stenoses or obstructions who underwent endoscopic dacryocystorhinostomy using the hammer-chisel or drill technique. Surgical outcomes were compared via follow-up screening for epiphora and anatomical complications such as granuloma and fibrous membrane formation, canalicular obstruction, and synechiae.
Results:
Postoperative anatomical complications occurred in 29 eyes (18.6%) in the hammer-chisel group and 51 eyes (36.2%) in the drill group (p = 0.001). The anatomical failure rate was higher in the drill group [28 eyes (19.9%)] than in the hammer-chisel group [18 eyes (11.5%); p = 0.038]. Functional failure was observed in 13 eyes (8.3%) in the hammer-chisel group and 13 eyes (9.2%) in the drill group (p = 0.787). The mean operation time was significantly longer in the drill group (35.5 ± 10.4 minutes vs. 25.4 ± 9.1 minutes) (p < 0.001).
Conclusions
During endoscopic dacryocystorhinostomy, osteotomy with a hammer-chisel is more successful and leads to fewer complications than osteotomy with a drill.
7.A Multicenter, Prospective, Observational Study to Evaluate Ethanol-Induced Symptoms in Patients Receiving Docetaxel Chemotherapy
Young-Woong WON ; Jin-Hyoung KANG ; Jung Hye KWON ; Dong-Hoe KOO ; Jung Hun KANG ; Chi Hoon MAENG ; Hee Kyung AHN ; Sung Yong OH ; Dae-Won LEE ; Joohyuk SOHN ; So Yeon OH ; Kyung Hee LEE ; Su-Jin KOH ; Keun Seok LEE ; Chan-Kyu KIM ; Ji-Yeon KIM ; Jun Ho JI ; Sung-Bae KIM ; Joo Young HA ; Ho Young KIM
Cancer Research and Treatment 2023;55(4):1096-1103
Purpose:
Several previous studies and case reports have reported ethanol-induced symptoms in patients receiving anticancer drugs containing ethanol. Most docetaxel formulations contain ethanol as a solvent. However, there are insufficient data on ethanol-induced symptoms when docetaxel-containing ethanol is administered. The primary purpose of this study was to investigate the frequency and pattern of ethanol-induced symptoms during and after docetaxel administration. The secondary purpose was to explore the risk factors for ethanol-induced symptoms.
Materials and Methods:
This was a prospective, multicenter, observational study. The participants filled out ethanol-induced symptom questionnaire on the day of chemotherapy and the following day.
Results:
Data from 451 patients were analyzed. The overall occurrence rate of ethanol-induced symptoms was 44.3% (200/451 patients). The occurrence rate of facial flushing was highest at 19.7% (89/451 patients), followed by nausea in 18.2% (82/451 patients), and dizziness in 17.5% (79/451 patients). Although infrequent, unsteady walking and impaired balance occurred in 4.2% and 3.3% of patients, respectively. Female sex, presence of underlying disease, younger age, docetaxel dose, and docetaxel-containing ethanol amount were significantly associated with the occurrence of ethanol-induced symptoms.
Conclusion
The occurrence of ethanol-induced symptoms was not low in patients receiving docetaxel-containing ethanol. Physicians need to pay more attention to the occurrence of ethanol-induced symptoms and prescribe ethanol-free or low-ethanol-containing formulations to high-risk patients.
8.Risk of ventricular tachycardia and its outcomes in patients undergoing continuous renal replacement therapy due to acute kidney injury
Seong Geun KIM ; Donghwan YUN ; Jayoun KIM ; Jinwoo LEE ; Min Woo KANG ; Yong Chul KIM ; Dong Ki KIM ; Kook-Hwan OH ; Kwon Wook JOO ; Hoseok KOO ; Yon Su KIM ; Seung Seok HAN
Kidney Research and Clinical Practice 2023;42(3):370-378
Despite efforts to treat critically ill patients who require continuous renal replacement therapy (CRRT) due to acute kidney injury (AKI), their mortality risk remains high. This condition may be attributable to complications of CRRT, such as arrhythmias. Here, we addressed the occurrence of ventricular tachycardia (VT) during CRRT and its relationship with patient outcomes. Methods: This study retrospectively enrolled 2,397 patients who started CRRT due to AKI from 2010 to 2020 at Seoul National University Hospital in Korea. The occurrence of VT was evaluated from the initiation of CRRT until weaning from CRRT. The odds ratios (ORs) of mortality outcomes were measured using logistic regression models after adjustment for multiple variables. Results: VT occurred in 150 patients (6.3%) after starting CRRT. Among them, 95 cases were defined as sustained VT (i.e., lasting ≥30 seconds), and the other 55 cases were defined as non-sustained VT (i.e., lasting <30 seconds). The occurrence of sustained VT was associated with a higher mortality rate than a nonoccurrence (OR, 2.04 and 95% confidence interval [CI], 1.23–3.39 for the 30- day mortality; OR, 4.06 and 95% CI, 2.04–8.08 for the 90-day mortality). The mortality risk did not differ between patients with non-sustained VT and nonoccurrence. A history of myocardial infarction, vasopressor use, and certain trends of blood laboratory findings (such as acidosis and hyperkalemia) were associated with the subsequent risk of sustained VT. Conclusion: Sustained VT occurrence after starting CRRT is associated with increased patient mortality. The monitoring of electrolytes and acid-base status during CRRT is essential because of its relationship with the risk of VT.
9.Increased Healthcare Delays in Tuberculosis Patients During the First Wave of COVID-19 Pandemic in Korea: A Nationwide Cross-Sectional Study
Jinsoo MIN ; Yousang KO ; Hyung Woo KIM ; Hyeon-Kyoung KOO ; Jee Youn OH ; Yun-Jeong JEONG ; Hyeon Hui KANG ; Kwang Joo PARK ; Yong Il HWANG ; Jin Woo KIM ; Joong Hyun AHN ; Yangjin JEGAL ; Ji Young KANG ; Sung-Soon LEE ; Jae Seuk PARK ; Ju Sang KIM
Journal of Korean Medical Science 2022;37(3):e20-
Background:
The coronavirus disease 2019 (COVID-19) pandemic caused disruptions to healthcare systems, consequently endangering tuberculosis (TB) control. We investigated delays in TB treatment among notified patients during the first wave of the COVID-19 pandemic in Korea.
Methods:
We systemically collected and analyzed data from the Korea TB cohort database from January to May 2020. Groups were categorized as ‘before-pandemic’ and ‘during-pandemic’ based on TB notification period. Presentation delay was defined as the period between initial onset of symptoms and the first hospital visit, and healthcare delay as the period between the first hospital visit and anti-TB treatment initiation. A multivariate logistic regression analysis was performed to evaluate factors associated with delays in TB treatment.
Results:
Proportion of presentation delay > 14 days was not significantly different between two groups (48.3% vs. 43.7%, P = 0.067); however, proportion of healthcare delay > 5 days was significantly higher in the during-pandemic group (48.6% vs. 42.3%, P = 0.012). In multivariate analysis, the during-pandemic group was significantly associated with healthcare delay > 5 days (adjusted odds ratio = 0.884, 95% confidence interval = 0.715–1.094).
Conclusion
The COVID-19 pandemic was associated with healthcare delay of > 5 days in Korea. Public health interventions are necessary to minimize the pandemic’s impact on the national TB control project.
10.In Situ-Forming Collagen/poly-γ-glutamic Acid Hydrogel System with Mesenchymal Stem Cells and Bone Morphogenetic Protein-2 for Bone Tissue Regeneration in a Mouse Calvarial Bone Defect Model
Sun-Hee CHO ; Keun Koo SHIN ; Sun-Young KIM ; Mi Young CHO ; Doo-Byoung OH ; Yong Taik LIM
Tissue Engineering and Regenerative Medicine 2022;19(5):1099-1111
BACKGROUND:
Bone marrow-derived mesenchymal stem cells (BMSCs) and bone morphogenetic protein-2 (BMP-2) have been studied for bone repair because they have regenerative potential to differentiate into osteoblasts. The development of injectable and in situ three-dimensional (3D) scaffolds to proliferate and differentiate BMSCs and deliver BMP-2 is a crucial technology in BMSC-based tissue engineering.
METHODS:
The proliferation of mouse BMSCs (mBMSCs) in collagen/poly-γ-glutamic acid (Col/γ-PGA) hydrogel was evaluated using LIVE/DEAD and acridine orange and propidium iodide assays. In vitro osteogenic differentiation and the gene expression level of Col/γ-PGA(mBMSC/BMP-2) were assessed by alizarin red S staining and quantitative reversetranscription polymerase chain reaction. The bone regeneration effect of Col/γ-PGA(mBMSC/BMP-2) was evaluated in a mouse calvarial bone defect model. The cranial bones of the mice were monitored by micro-computed tomography and histological analysis.
RESULTS:
The developed Col/γ-PGA hydrogel showed low viscosity below ambient temperature, while it provided a high elastic modulus and viscous modulus at body temperature. After gelation, the Col/γ-PGA hydrogel showed a 3D and interconnected porous structure, which helped the effective proliferation of BMSCs with BMP-2. The Col/γ-PGA (mBMSC/BMP-2) expressed more osteogenic genes and showed effective orthotopic bone formation in a mouse model with a critical-sized bone defect in only 3–4 weeks.
CONCLUSION
The Col/γ-PGA(mBMSC/BMP-2) hydrogel was suggested to be a promising platform by combining collagen as a major component of the extracellular matrix and γ-PGA as a viscosity reducer for easy handling at room temperature in BMSC-based bone tissue engineering scaffolds.

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