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.Clinical and Imaging Features of a Focal Intrahepatic Biliary Stricture Visualized Only as Duct Dilatation
Byoung Je KIM ; Min Seong KIM ; Mi Jeong KIM ; Jae Hyuck YI ; Jin Hyuk PAEK ; Hye Won LEE ; Chan Hee PARK ; Gisu LEE ; Koo Jeong KANG
Journal of the Korean Society of Radiology 2024;85(6):1157-1168
Purpose:
We assessed the proportion of patients with a focal intrahepatic stricture (FIHS) that was a precursor lesion or malignancy and visualized only as a duct dilatation.
Materials and Methods:
This retrospective study assessed patients who underwent surgery or biopsy for an FIHS on CT or MRI between January 2010 and March 2022. The number and proportion of non-precursor benign lesions, precursors, and malignancies were calculated.Clinical variables and imaging features were compared between non-premalignant benign and premalignant/malignant FIHSs.
Results:
Twenty-eight patients with confirmed histopathological diagnoses were identified, including 15 men (54.0%) and 13 women (46.0%). The median age of all patients at the first imaging diagnosis was 65 ± 9.54 (range, 43–78) years. Of the 28 patients with FIHSs, 9 (32%) were diagnosed with cholangiocarcinoma and 7 (25%) were diagnosed with precursor lesions, which included six intraductal papillary neoplasms of the bile duct and one biliary intraepithelial neoplasm. Accordingly, 16 (57%) patients had malignant or precursor lesions, and 12 (43%) were diagnosed with non-precursor benign lesions. None of the clinical variables and imaging features used for analysis showed a statistically significant difference between the non-premalignant benign and premalignant/malignant FIHS groups (p > 0.05).
Conclusion
FIHSs visualized only as duct dilatation can harbor malignant or precursor lesions.
5.Clinical and Imaging Features of a Focal Intrahepatic Biliary Stricture Visualized Only as Duct Dilatation
Byoung Je KIM ; Min Seong KIM ; Mi Jeong KIM ; Jae Hyuck YI ; Jin Hyuk PAEK ; Hye Won LEE ; Chan Hee PARK ; Gisu LEE ; Koo Jeong KANG
Journal of the Korean Society of Radiology 2024;85(6):1157-1168
Purpose:
We assessed the proportion of patients with a focal intrahepatic stricture (FIHS) that was a precursor lesion or malignancy and visualized only as a duct dilatation.
Materials and Methods:
This retrospective study assessed patients who underwent surgery or biopsy for an FIHS on CT or MRI between January 2010 and March 2022. The number and proportion of non-precursor benign lesions, precursors, and malignancies were calculated.Clinical variables and imaging features were compared between non-premalignant benign and premalignant/malignant FIHSs.
Results:
Twenty-eight patients with confirmed histopathological diagnoses were identified, including 15 men (54.0%) and 13 women (46.0%). The median age of all patients at the first imaging diagnosis was 65 ± 9.54 (range, 43–78) years. Of the 28 patients with FIHSs, 9 (32%) were diagnosed with cholangiocarcinoma and 7 (25%) were diagnosed with precursor lesions, which included six intraductal papillary neoplasms of the bile duct and one biliary intraepithelial neoplasm. Accordingly, 16 (57%) patients had malignant or precursor lesions, and 12 (43%) were diagnosed with non-precursor benign lesions. None of the clinical variables and imaging features used for analysis showed a statistically significant difference between the non-premalignant benign and premalignant/malignant FIHS groups (p > 0.05).
Conclusion
FIHSs visualized only as duct dilatation can harbor malignant or precursor lesions.
6.Clinical and Imaging Features of a Focal Intrahepatic Biliary Stricture Visualized Only as Duct Dilatation
Byoung Je KIM ; Min Seong KIM ; Mi Jeong KIM ; Jae Hyuck YI ; Jin Hyuk PAEK ; Hye Won LEE ; Chan Hee PARK ; Gisu LEE ; Koo Jeong KANG
Journal of the Korean Society of Radiology 2024;85(6):1157-1168
Purpose:
We assessed the proportion of patients with a focal intrahepatic stricture (FIHS) that was a precursor lesion or malignancy and visualized only as a duct dilatation.
Materials and Methods:
This retrospective study assessed patients who underwent surgery or biopsy for an FIHS on CT or MRI between January 2010 and March 2022. The number and proportion of non-precursor benign lesions, precursors, and malignancies were calculated.Clinical variables and imaging features were compared between non-premalignant benign and premalignant/malignant FIHSs.
Results:
Twenty-eight patients with confirmed histopathological diagnoses were identified, including 15 men (54.0%) and 13 women (46.0%). The median age of all patients at the first imaging diagnosis was 65 ± 9.54 (range, 43–78) years. Of the 28 patients with FIHSs, 9 (32%) were diagnosed with cholangiocarcinoma and 7 (25%) were diagnosed with precursor lesions, which included six intraductal papillary neoplasms of the bile duct and one biliary intraepithelial neoplasm. Accordingly, 16 (57%) patients had malignant or precursor lesions, and 12 (43%) were diagnosed with non-precursor benign lesions. None of the clinical variables and imaging features used for analysis showed a statistically significant difference between the non-premalignant benign and premalignant/malignant FIHS groups (p > 0.05).
Conclusion
FIHSs visualized only as duct dilatation can harbor malignant or precursor lesions.
7.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.
8.Clinical Outcomes of Topical Bromfenac Combined with Intravitreal Aflibercept Injection for Exudative Age-related Macular Degeneration
Mi Sun KWON ; Jin Young KIM ; Yu Min KIM ; Jae Rock DO ; Yong Koo KANG ; Jae Pil SHIN ; Dong Ho PARK
Journal of the Korean Ophthalmological Society 2024;65(1):27-34
Purpose:
To evaluate the efficacy of topical bromfenac combined with intravitreal aflibercept (IVA) injection in the treatment of exudative age-related macular degeneration over a 2-year period.
Methods:
We retrospectively studied 43 patients (43 eyes) with exudative age-related macular degeneration. Patients were included if they received IVA injections under an as-needed protocol and had > 2 years of follow-up. Among the 43 eyes, 25 received only IVA (IVA group), whereas 18 received a combination of IVA and topical bromfenac (bromfenac group). The primary outcome measure was the total number of IVA injections administered over 2 years from the initial injection compared between groups. We also compared changes in best-corrected visual acuity (BCVA) and central retinal thickness (CRT) between groups.
Results:
The bromfenac group received a significantly lower number of IVA injections over 2 years (7.4 ± 1.0), compared with the IVA group (9.0 ± 1.9) (p < 0.01). Both groups showed improvements in BCVA and CRT after 2 years compared with their baseline values. However, changes in BCVA and CRT at 2 years did not significantly differ between groups (p = 0.786 and p = 0.905, respectively).
Conclusions
Among patients with exudative age-related macular degeneration, the total number of IVA injections over 2 years was lower in the bromfenac group than in the IVA group. More studies are needed to confirm the efficacy of topical bromfenac in a combined treatment regimen.
9.One-year Clinical Outcome of Topical Bromfenac in Central Serous Chorioretinopathy
Mi Sun KWON ; Yu Min KIM ; Jin Young KIM ; Jae Rock DO ; Yong Koo KANG ; Dong Ho PARK
Journal of the Korean Ophthalmological Society 2024;65(7):435-441
Purpose:
To evaluate the efficacy of topical bromfenac in treating central serous chorioretinopathy (CSC) over a 1-year period.
Methods:
A retrospective analysis was conducted on 57 patients (57 eyes) with CSC followed for > 1 year. Patients were divided into two groups: those treated with bromfenac eye drops twice daily (29 eyes) and a control group (28 eyes). Best-corrected visual acuity (BCVA), central macular thickness (CMT), and subretinal fluid (SRF) height were measured and compared between the two groups as was the proportion of chronic cases.
Results:
Significant improvements in CMT and SRF height were noted in both groups over the follow-up period. The bromfenac group demonstrated significantly lower CMT at 6, 9, and 12 months (p = 0.045, 0.042, and 0.023, respectively) and lower SRF height (p = 0.037, 0.048, and 0.046, respectively) compared to the control group. The proportion of chronic cases was significantly lower in the bromfenac group (17.2%) compared to the control group (42.9%, p = 0.035).
Conclusions
Topical bromfenac reduced the rate of progression to chronic CSC and showed significant anatomical improvements after 6 months, suggesting its potential as an effective treatment option.
10.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.

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