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.Neuroblastoma: A 2020 Survey Conducted by the Korean Association of Pediatric Surgeons
Hee-Beom YANG ; Soo Min AHN ; Min Jeng CHO ; Yong-Hoon CHO ; Soo Jin Na CHOI ; Yoon Mi CHOI ; Jae Hee CHUNG ; Seok Joo HAN ; In Geol HO ; Jeong HONG ; Kyong IHN ; Yeon Jun JEONG ; Eunyoung JUNG ; Dae Youn KIM ; Hae-Young KIM ; Ki Hoon KIM ; Seong Chul KIM ; Soo-Hong KIM ; Eun-Jung KOO ; Hyun Hee KWON ; Yong Jae KWON ; Nam-Hyuk LEE ; Ju Yeon LEE ; Sanghoon LEE ; Jung-Man NAMGOONG ; Chaeyoun OH ; Jung-Tak OH ; Jin Young PARK ; Junbeom PARK ; Jeong-Meen SEO ; Jae Ho SHIN ; Hyun Beak SHIN ; Joohyun SIM ; Jiyoung SUL ; Joon Kee YOUN ; Hyun-Young KIM
Advances in Pediatric Surgery 2025;31(2):66-76
Purpose:
To report a nationwide survey on neuroblastoma conducted by the Korean Association of Pediatric Surgeons (KAPS) in 2020.
Methods:
The clinical data of pediatric patients diagnosed with and treated for neuroblastoma from 2005 to 2019 in 19 hospitals of KAPS members were collected. Survival and prognostic factor analyses were performed using the log rank test and Cox proportional hazard analysis. A p-value <0.05 was considered significant.
Results:
A total of 669 patients with neuroblastoma were registered for the study. The results were presented and discussed at the 36th annual meeting of the KAPS, which was held in Seoul on August 21, 2020.
Conclusion
This study provides information on patient demographics, prognostic outcomes, and comprehensive treatment outcomes for neuroblastoma. The study is expected to be an important reference for improving pediatric surgeons’ understanding and treatment of neuroblastoma.
5.Clinical Characteristics and Early Outcomes of Stroke Revascularization in Cognitively Impaired Patients on Anti-dementia Medication
Ji Hye YANG ; Sung Jin PARK ; Min Hwan LEE ; Han-Bin LEE ; Ja Seong KOO ; Sang-Mi NOH ; Si-Ryung HAN ; Taewon KIM ; Hyun-Ji CHO ; Hae-Eun SHIN ; Sang Bong LEE ; Si Baek LEE ; A-Hyun CHO
Journal of Neurosonology and Neuroimaging 2025;17(2):31-36
Background:
Poor outcomes after acute ischemic stroke (AIS) revascularization are anticipated in patients with dementia due to advanced age, comorbidities, and reduced disease awareness. This study investigated clinical characteristics and short-term outcomes of AIS revascularization in patients undergoing dementia treatment.
Methods:
We retrospectively reviewed patients who underwent AIS revascularization therapy at eight centers of the Catholic University of Korea. Patients receiving anti-dementia medication for cognitive impairment before stroke onset were analyzed. Clinical characteristics and outcomes, including the modified Rankin Scale (mRS) score, hemorrhagic transformation, and mortality, were collected.
Results:
Among 1,379 patients who received AIS revascularization over 5 years, 13 (0.94%; mean age 83 years; 8 females) had a preexisting diagnosis of dementia (Alzheimer’s disease in 11, mild cognitive impairment in 2) and were on anti-dementia medication. Two patients underwent intravenous thrombolysis combined with endovascular therapy, whereas 11 underwent endovascular therapy alone. Most patients (11/13, 84.6%) presented with an unclear onset time. Stroke lesions were located in the right middle cerebral artery (MCA) in seven cases, left MCA in three, bilateral MCAs in one, and posterior circulation in two. Hemorrhagic transformation occurred in six patients (46%), of whom three (23%) were symptomatic. The mRS scores at discharge were 6 in two patients, 5 in one patient, 4 in nine patients, and 3 in one patient. Four patients died within 3 months of stroke onset.
Conclusion
The proportion of patients with cognitive impairment receiving anti-dementia medication among those undergoing stroke revascularization therapy was very small. The rates of hemorrhagic transformation and mortality were high. None of the patients achieved favorable outcomes at discharge.
6.Role Conflict of Physician Assistant Nurses in Korea: A Scoping Review
Jea Eun PARK ; Bo Hyun PARK ; Young Mi KOO
Journal of Korean Clinical Nursing Research 2025;31(3):269-281
Purpose:
This study aimed to examine research trends and synthesize key findings on role conflict among physician assistant nurses in Korea through a scoping review.
Methods:
Following Arksey and O'Malley's five-step framework, literature published from January 2000 to December 2024 was searched across four Korean databases: Research Information Sharing Service (RISS), Data Base Periodical Information Academic (DBpia), Korean studies Information Service System (KISS) and ScienceON. To include gray literature, additional searches were performed using Google Scholar and manual refernce checking. After removing duplicates and screening, 15 studies were included. Data were organized using a Microsoft Excel-based framework.
Results:
Among the 15 studies, 13 were quantitative studies, one was a concept analysis, and one was a grounded theory study. The studies reported that physician assistant nurses experienced moderate levels of role conflict, with scores ranging from 3.18 to 3.88 out of 5. Role conflict was significantly associated with job satisfaction, turnover intention, job stress, and burnout.
Conclusion
Role conflict was found to negatively impact the professionalism and job performance of physician assistant nurses and ultimately affects the quality of healthcare services. Institutional strategies, such as clarifying job roles and legally defining scopes of practice, are necessary to reduce role conflict and enhance professional identity.
7.Progression-directed therapy in patients with oligoprogressive castration-resistant prostate cancer
Jun Nyung LEE ; Mi Young KIM ; Jae Hoon KANG ; Jun-Koo KANG ; Jae-Wook CHUNG ; Yun-Sok HA ; Seock Hwan CHOI ; Bum Soo KIM ; Hyun Tae KIM ; Tae-Hwan KIM ; Eun Sang YOO ; See Hyung KIM ; Tae Gyun KWON
Investigative and Clinical Urology 2024;65(2):132-138
Purpose:
Oligoprogressive lesions are observed in a subset of patients who progress to castration-resistant prostate cancer (CRPC), while other lesions remain controlled by systemic therapy. This study evaluates the impact of progression-directed therapy (PDT) on these oligoprogressive lesions.
Materials and Methods:
This retrospective study included 40 patients diagnosed with oligoprogressive CRPC. PDT was performed for treating all progressive sites using radiotherapy. Fifteen patients received PDT using radiotherapy for all progressive sites (PDT group) while 25 had additional first-line systemic treatments (non-PDT group). In PDT group, 7 patients underwent PDT and unchanged systemic therapy (PDT-A group) and 8 patients underwent PDT with additional new line of systemic therapy on CRPC (PDT-B group). The Kaplan–Meier method was used to assess treatment outcomes.
Results:
The prostate specific antigen (PSA) nadir was significantly lower in PDT group compare to non-PDT group (p=0.007). A 50% PSA decline and complete PSA decline were observed in 13 patients (86.7%) and 10 patients (66.7%) of PDT group and in 18 patients (72.0%) and 11 patients (44.0%) of non-PDT group, respectively. The PSA-progression free survival of PDT-B group was significantly longer than non-PDT group. The median time to failure of first-line systemic therapy on CRPC was 30.2 months in patients in PDT group and 14.9 months in non-PDT group (p=0.014). PDT-B group showed a significantly longer time to progression than non-PDT group (p=0.025). Minimal PDT-related adverse events were observed.
Conclusions
PDT can delay progression of disease and enhance treatment efficacy with acceptable tolerability in oligoprogressive CRPC.
8.Clinical Applicability and Safety of Conventional Frame-Based Stereotactic Techniques for Stereoelectroencephalography
Junhyung KIM ; Seok Ho HONG ; Hyun-Jin KIM ; Mi-Sun YUM ; Tae Sung KO ; Yong Seo KOO ; Sang-Ahm LEE
Journal of Korean Neurosurgical Society 2024;67(6):661-674
Objective:
: Stereoelectroencephalography (SEEG) is increasingly being recognized as an important invasive modality for presurgical evaluation of epilepsy. This study focuses on the clinical and technical considerations of SEEG investigations when using conventional frame-based stereotaxy, drawing on institutional experience and a comprehensive review of relevant literature.
Methods:
: This retrospective observational study encompassed the surgical implantation of 201 SEEG electrodes in 16 epilepsy patients using a frame-based stereotactic instrument at a single tertiary-level center. We provide detailed descriptions of the operative procedures and technical nuances for bilateral and multiple SEEG insertions, along with several illustrative cases. Additionally, we present a literature review on the technical aspects of the SEEG procedure, discussing its clinical implications and potential risks.
Results:
: Frame-based SEEG electrode placements were successfully performed through sagittal arc application, with the majority (81.2%) of cases being bilateral and involving up to 18 electrodes in a single operation. The median skin-to-skin operation time was 162 minutes (interquartile range [IQR], 145–200), with a median of 13 minutes (IQR, 12–15) per electrode placement for time efficiency. There were two occurrences (1.0%) of electrode misplacement and one instance (0.5%) of a postoperative complication, which manifested as a delayed intraparenchymal hemorrhage. Following SEEG investigation, 11 patients proceeded with surgical intervention, resulting in favorable seizure outcomes for nine (81.8%) and complete remission for eight cases (72.7%).
Conclusion
: Conventional frame-based stereotactic techniques remain a reliable and effective option for bilateral and multiple SEEG electrode placements. While SEEG is a suitable approach for selected patients who are strong candidates for epilepsy surgery, it is important to remain vigilant concerning the potential risks of electrode misplacement and hemorrhagic complications.
9.Incision and Drainage Versus Needle Aspiration for Peritonsillar Abscess: A Prospective Randomized Controlled Trial
Jin LEE ; Seung Yoon HAN ; Dong Hyun KIM ; Jung-Hun KWON ; Hyung-Bon KOO ; Se Jeong JEON ; Jeong Mi LEE ; Young Ju JIN
Korean Journal of Otolaryngology - Head and Neck Surgery 2024;67(4):228-233
Background and Objectives:
Peritonsillar abscess (PTA) is an accumulation of pus between the palatine tonsil and pharyngeal constrictor muscle. It is a common cause of emergency on-call consultations among ENT doctors and occurs due to the possibility of sepsis, airway obstruction, and progression to deep neck infection. This study aims to compare the effectiveness of needle aspiration (NA) to incision & drainage (I&D) for the treatment of PTA.Subjects and Method From September 2018 to March 2020, 58 patients with PTA were admitted to our ENT Department. After a comprehensive diagnostic procedure, 38 patients were enrolled in the study and they underwent either I&D (20 patients) or NA (18 patients) treatment. Patients were discharged when edema decreased on the endoscopic findings and their symptoms improved, with a visual analogue scale (VAS) score <3 points. For each patient, we evaluated the abscess volume, age, body mass index, hypertension, diabetes mellitus, smoking and drinking history, abscess size, and duration of hospitalization. White blood cell (WBC) count, C-reactive protein (CRP) level, and erythrocyte sedimentation rate (ESR) were estimated on the 1st, 3rd, and 5th days of hospitalization.
Results:
The mean age of participants was 42.8±15.5 years and 40.3±14.7 years in the I&D and NA groups, respectively. Except for ESR, the mean hospitalization duration, initial volume of abscess size, VAS pain score, WBC count and the CRP level were not different between the groups.
Conclusion
Our study revealed no significant differences in hospital stay duration, VAS score, WBC counts or in the CRP level among patients admitted for PTA, whether they underwent I&D or NA.
10.COVID-19 Vaccine-Associated Pneumonitis in the Republic of Korea:A Nationwide Multicenter Survey
Hongseok YOO ; Song Yee KIM ; Moo Suk PARK ; Sung Hwan JEONG ; Sung-Woo PARK ; Hong Lyeol LEE ; Hyun-Kyung LEE ; Sei-Hoon YANG ; Yangjin JEGAL ; Jung-Wan YOO ; Jongmin LEE ; Hyung Koo KANG ; Sun Mi CHOI ; Jimyung PARK ; Young Whan KIM ; Jin Woo SONG ; Joo Hun PARK ; Won-Il CHOI ; Hye Sook CHOI ; Chul PARK ; Jeong-Woong PARK ; Man Pyo CHUNG
Journal of Korean Medical Science 2023;38(14):e106-
Background:
Recent reports have suggested that pneumonitis is a rare complication following vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).However, its clinical features and outcomes are not well known. The aim of this study was to identify the clinical characteristics and outcomes of patients with vaccine-associated pneumonitis following vaccination against SARS-CoV-2.
Methods:
In this nationwide multicenter survey study, questionnaires were distributed to pulmonary physicians in referral hospitals. They were asked to report cases of development or exacerbation of interstitial lung disease (ILD) associated with the coronavirus disease 2019 vaccine. Vaccine-associated pneumonitis was defined as new pulmonary infiltrates documented on chest computed tomography within 4 weeks of vaccination and exclusion of other possible etiologies.
Results:
From the survey, 49 cases of vaccine-associated pneumonitis were identified between February 27 and October 30, 2021. After multidisciplinary discussion, 46 cases were analyzed. The median age was 66 years and 28 (61%) were male. The median interval between vaccination and respiratory symptoms was 5 days. There were 20 (43%), 17 (37%), and nine (19%) patients with newly identified pneumonitis, exacerbation of pre-diagnosed ILD, and undetermined pre-existing ILD, respectively. The administered vaccines were BNT162b2 and ChAdOx1 nCov-19/AZD1222 each in 21 patients followed by mRNA-1273 in three, and Ad26.COV2.S in one patient. Except for five patients with mild disease, 41 (89%) patients were treated with corticosteroid. Significant improvement was observed in 26 (57%) patients including four patients who did not receive treatment. However, ILD aggravated in 9 (20%) patients despite treatment. Mortality was observed in eight (17%) patients.
Conclusion
These results suggest pneumonitis as a potentially significant safety concern for vaccines against SARS-CoV-2. Clinical awareness and patient education are necessary for early recognition and prompt management. Additional research is warranted to identify the epidemiology and characterize the pathophysiology of vaccine-associated pneumonitis.

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