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 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.
7.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.
8.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.
9.The timing of adenomyosis diagnosis and its impact on pregnancy outcomes: a national population-based study
Young Mi JUNG ; Wonyoung WI ; Hwa Seon KOO ; Seung-Hyuk SHIM ; Soo-young OH ; Seung Mi LEE ; Jin Hoon CHUNG ; SiHyun CHO ; Hyunjin CHO ; Min-Jeong OH ; Geum Joon CHO ; Hye-Sung WON
Obstetrics & Gynecology Science 2024;67(3):270-278
Objective:
Adenomyosis impacts pregnancy outcomes, although there is a lack of consensus regarding the actual effects. It is likely, however, that the severity of adenomyosis or ultrasound findings or timing of diagnosis can have different effects on adverse pregnancy outcomes (APOs).
Methods:
In this study, we aimed to investigate the impact of the timing of adenomyosis diagnosis on pregnancy outcomes. Singleton pregnant women who delivered between 2017 and 2022 were analyzed based on the timing of adenomyosis diagnosis, using a national database. The final cohort was classified into three groups: 1) group 1, without adenomyosis; 2) group 2, those diagnosed with adenomyosis before pregnancy; and 3) group 3, those diagnosed with adenomyosis during pregnancy.
Results:
A total of 1,226,475 cases were ultimately included in this study. Women with a diagnosis of adenomyosis had a significantly higher risk of APOs including hypertensive disorder during pregnancy (HDP), gestational diabetes mellitus (GDM), postpartum hemorrhage, placental abruption, preterm birth, and delivery of a small-for-gestational-age infant even after adjusting for covariates. In particular, concerning HDP, the risk was highest in group 3 (group 2: adjusted odds ratio [aOR], 1.15 vs. group 3: aOR, 1.36). However, the highest GDM risk was in group 2 (GDM; group 2: aOR, 1.24 vs. group 3: aOR, 1.04).
Conclusion
The increased risk of APO differed depending on the timing of adenomyosis diagnosis. Therefore, efforts for more careful monitoring and prevention of APOs may be necessary when such women become pregnant.
10.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.

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