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.Anaplastic lymphoma kinase-negative primary systemic anaplastic large cell lymphoma mimicking a ruptured epidermal cyst of the scalp: a case report and literature review
Il Young AHN ; Tae Hui BAE ; Shin Hyuk KANG ; Soo Hyun WOO ; Woo Ju KIM ; Min Eui HONG ; Han Koo KIM
Archives of Craniofacial Surgery 2024;25(6):298-302
The incidence of anaplastic large cell lymphoma is 0.25 cases per 100,000 people. It usually causes lymphadenopathy and B symptoms; however, diverse cutaneous manifestations can also be observed. We report a rare case of anaplastic large cell lymphoma of the scalp, which presented similarly to a ruptured epidermal cyst. A 77-year-old woman visited the outpatient clinic complaining of scalp masses that had appeared 2 months before. One week before her visit, she had undergone incision and drainage at a local clinic but showed no improvement. Before surgery, facial magnetic resonance imaging revealed two suspicious ruptured cystic masses. Surgical excision was performed with a 1-cm free margin from the soft mass. Histopathology confirmed anaplastic lymphoma kinase-negative anaplastic large cell lymphoma. After wide excision and skin grafting for wound reconstruction, followed by consultation with a hemato-oncologist and radiation oncologist, chemotherapy was planned to prevent recurrence. Differentiating anaplastic lymphoma kinase-negative anaplastic large cell lymphoma of the scalp from a ruptured epidermal cyst-like mass proved challenging. We recommend considering the possibility of anaplastic large cell lymphoma if an epidermal cyst-like mass does not respond to antibiotics or conventional dressing, as illustrated by our rare case.
5.Anaplastic lymphoma kinase-negative primary systemic anaplastic large cell lymphoma mimicking a ruptured epidermal cyst of the scalp: a case report and literature review
Il Young AHN ; Tae Hui BAE ; Shin Hyuk KANG ; Soo Hyun WOO ; Woo Ju KIM ; Min Eui HONG ; Han Koo KIM
Archives of Craniofacial Surgery 2024;25(6):298-302
The incidence of anaplastic large cell lymphoma is 0.25 cases per 100,000 people. It usually causes lymphadenopathy and B symptoms; however, diverse cutaneous manifestations can also be observed. We report a rare case of anaplastic large cell lymphoma of the scalp, which presented similarly to a ruptured epidermal cyst. A 77-year-old woman visited the outpatient clinic complaining of scalp masses that had appeared 2 months before. One week before her visit, she had undergone incision and drainage at a local clinic but showed no improvement. Before surgery, facial magnetic resonance imaging revealed two suspicious ruptured cystic masses. Surgical excision was performed with a 1-cm free margin from the soft mass. Histopathology confirmed anaplastic lymphoma kinase-negative anaplastic large cell lymphoma. After wide excision and skin grafting for wound reconstruction, followed by consultation with a hemato-oncologist and radiation oncologist, chemotherapy was planned to prevent recurrence. Differentiating anaplastic lymphoma kinase-negative anaplastic large cell lymphoma of the scalp from a ruptured epidermal cyst-like mass proved challenging. We recommend considering the possibility of anaplastic large cell lymphoma if an epidermal cyst-like mass does not respond to antibiotics or conventional dressing, as illustrated by our rare case.
6.Anaplastic lymphoma kinase-negative primary systemic anaplastic large cell lymphoma mimicking a ruptured epidermal cyst of the scalp: a case report and literature review
Il Young AHN ; Tae Hui BAE ; Shin Hyuk KANG ; Soo Hyun WOO ; Woo Ju KIM ; Min Eui HONG ; Han Koo KIM
Archives of Craniofacial Surgery 2024;25(6):298-302
The incidence of anaplastic large cell lymphoma is 0.25 cases per 100,000 people. It usually causes lymphadenopathy and B symptoms; however, diverse cutaneous manifestations can also be observed. We report a rare case of anaplastic large cell lymphoma of the scalp, which presented similarly to a ruptured epidermal cyst. A 77-year-old woman visited the outpatient clinic complaining of scalp masses that had appeared 2 months before. One week before her visit, she had undergone incision and drainage at a local clinic but showed no improvement. Before surgery, facial magnetic resonance imaging revealed two suspicious ruptured cystic masses. Surgical excision was performed with a 1-cm free margin from the soft mass. Histopathology confirmed anaplastic lymphoma kinase-negative anaplastic large cell lymphoma. After wide excision and skin grafting for wound reconstruction, followed by consultation with a hemato-oncologist and radiation oncologist, chemotherapy was planned to prevent recurrence. Differentiating anaplastic lymphoma kinase-negative anaplastic large cell lymphoma of the scalp from a ruptured epidermal cyst-like mass proved challenging. We recommend considering the possibility of anaplastic large cell lymphoma if an epidermal cyst-like mass does not respond to antibiotics or conventional dressing, as illustrated by our rare case.
7.Surgical outcome and risk scoring to predict survival after hepatic resection for hepatocellular carcinoma with portal vein tumor thrombosis
Tae-Seok KIM ; Kwangho YANG ; Gi Hong CHOI ; Hye Yeon YANG ; Dong-Sik KIM ; Hye-Sung JO ; Gyu-Seong CHOI ; Kwan Woo KIM ; Young Chul YOON ; Jaryung HAN ; Doo Jin KIM ; Shin HWANG ; Koo Jeong KANG
Annals of Hepato-Biliary-Pancreatic Surgery 2024;28(2):134-143
Background:
s/Aims: The hepatocellular carcinoma (HCC) with portal vein tumor thrombosis (PVTT) is classified as the advanced stage (BCLC stage C) with extremely poor prognosis, and in current guidelines is recommended for systemic therapy. This study aimed to evaluate the surgical outcomes and long-term prognosis after hepatic resection (HR) for patients who have HCC combined with PVTT.
Methods:
We retrospectively analyzed 332 patients who underwent HR for HCC with PVTT at ten tertiary referral hospitals in South Korea.
Results:
The median overall and recurrence-free survival after HR were 32.4 and 8.6 months, while the 1-, 3-, and 5-year overall survival rates were 75%, 48%, and 39%, respectively. In multivariate analysis, tumor number, tumor size, AFP, PIVKA−II, neutrophil-to-lymphocyte ratio, and albumin–bilirubin (ALBI) grade were significant prognostic factors. The risk scoring was developed using these seven factors–tumor, inflammation and hepatic function (TIF), to predict patient prognosis. The prognosis of the patients was well stratified according to the scores (log-rank test, p < 0.001).
Conclusions
HR for patients who have HCC combined with PVTT provided favorable survival outcomes. The risk scoring was useful in predicting prognosis, and determining the appropriate treatment strategy for those patients who have HCC with PVTT.
8.Diagnostic Accuracy of Contrast-Enhanced Ultrasonography for the Assessment of Small Renal Mass: A Prospective Study
Jae-Wook CHUNG ; Seo Young PARK ; Seunghee WOO ; Yun Ah KIM ; Jun-Koo KANG ; Yun-Sok HA ; Jun Nyung LEE ; Bum Soo KIM ; Tae-Hwan KIM ; Ghil Suk YOON ; Tae Gyun KWON ; See Hyung KIM
Journal of Urologic Oncology 2024;22(2):128-135
Purpose:
We prospectively compared the diagnostic accuracy of kidney dynamic computed tomography (KDCT), magnetic resonance imaging (MRI), and contrast-enhanced ultrasonography (CEUS) for the assessment of small renal mass (SRM) (≤4 cm).
Materials and Methods:
Seventy-six patients with SRM (mean age, 58.4±13.1 years) who underwent renal biopsy (n=11) or nephrectomy (partial or radical) (n=65) were enrolled. All patients underwent KDCT, MRI, and CEUS before renal biopsy or nephrectomy.
Results:
The mean maximal tumor size was 21.0±9.8 mm. The mean R.E.N.A.L nephrometry score was 7.0±1.7. Fifty-six patients had renal cell carcinoma (RCC) (clear cell, 42; papillary, 7; chromophobe, 5; succinate dehydrogenase deficient, 1; unspecified RCC, 1). Twenty patients had a benign tumor (angiomyolipoma, 11; oncocytoma, 3; others, 6). Clinicopathologic variables were comparable in RCC and benign groups. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of KDCT were 89.3%, 10.0%, 73.5%, and 25.0%, respectively. The sensitivity, specificity, PPV, and NPV of MRI were 89.3%, 10.0%, 73.5%, and 25.0%, respectively. The sensitivity, specificity, PPV, and NPV of CEUS were 85.7%, 50.0%, 82.8%, and 55.6%, respectively. The diagnostic accuracy of KDCT, MRI, and CEUS were 68.4%, 68.4%, and 76.3%, respectively. In a subgroup analysis based on clinical tumor size of 10 mm and 20 mm, CEUS also showed the highest diagnostic accuracy.
Conclusions
CEUS had the highest specificity, PPV, and NPV and may help improve the assessment of SRM.
9.Clinical effectiveness of spindle-view intracytoplasmic sperm injection compared to conventional intracytoplasmic sperm injection in patients with poor ovarian response and previous implantation failure
Suji KIM ; Minkyung CHO ; Sungwook CHUN ; Tae Woo PARK ; Jae Hong JOO ; Yun Hee KOO ; Yong Chan LEE
Obstetrics & Gynecology Science 2024;67(3):304-313
Objective:
This study aimed to determine the clinical advantage of spindle-view intracytoplasmic sperm injection (SVICSI; a novel technology) over conventional intracytoplasmic sperm injection (cICSI) in patients with poor ovarian response (POR) and previous implantation failure.
Methods:
The study included 37 patients who underwent SVICSI followed by fresh embryo transfer (FET) at a single fertility clinic from January to December 2022, 58 patients who underwent cICSI followed by FET at the same fertility clinic from January to December 2021 as a control group. All study participants met the Bologna criteria for POR and had at least three or more previous failed embryo transfers.
Results:
The number of blastocyst transfers was significantly higher in the SVICSI group than in the cICSI group. A good-quality cleavage embryo rate, blastocyst rate, and good-quality blastocyst rate were also significantly higher in the SVICSI group than in the cICSI group. There were no significant differences in the rates of fertilization, implantation, clinical pregnancy, or clinical abortion between the two groups.
Conclusion
In patients with POR, those who underwent SVICSI appeared to have better embryos than those who underwent cICSI. However, whether SVICSI improved clinical outcomes such as implantation and pregnancy rates cannot be proven.
10.Comparison of Short-Term Outcomes and Safety Profiles between Androgen Deprivation Therapy+Abiraterone/Prednisone and Androgen Deprivation Therapy+Docetaxel in Patients with De Novo Metastatic Hormone-Sensitive Prostate Cancer
Dong Jin PARK ; Tae Gyun KWON ; Jae Young PARK ; Jae Young JOUNG ; Hong Koo HA ; Seong Soo JEON ; Sung-Hoo HONG ; Sungchan PARK ; Seung Hwan LEE ; Jin Seon CHO ; Sung-Woo PARK ; Se Yun KWON ; Jung Ki JO ; Hong Seok PARK ; Sang-Cheol LEE ; Dong Deuk KWON ; Sun Il KIM ; Sang Hyun PARK ; Soodong KIM ; Chang Wook JEONG ; Cheol KWAK ; Seock Hwan CHOI ;
The World Journal of Men's Health 2024;42(3):620-629
Purpose:
This study aimed to compare the short-term outcomes and safety profiles of androgen-deprivation therapy (ADT)+abiraterone/prednisone with those of ADT+docetaxel in patients with de novo metastatic hormone-sensitive prostate cancer (mHSPC).
Materials and Methods:
A web-based database system was established to collect prospective cohort data for patients with mHSPC in Korea. From May 2019 to November 2022, 928 patients with mHSPC from 15 institutions were enrolled. Among these patients, data from 122 patients who received ADT+abiraterone/prednisone or ADT+docetaxel as the primary systemic treatment for mHSPC were collected. The patients were divided into two groups: ADT+abiraterone/prednisone group (n=102) and ADT+docetaxel group (n=20). We compared the demographic characteristics, medical histories, baseline cancer status, initial laboratory tests, metastatic burden, oncological outcomes for mHSPC, progression after mHSPC treatment, adverse effects, follow-up, and survival data between the two groups.
Results:
No significant differences in the demographic characteristics, medical histories, metastatic burden, and baseline cancer status were observed between the two groups. The ADT+abiraterone/prednisone group had a lower prostate-specific antigen (PSA) progression rate (7.8% vs. 30.0%; p=0.011) and lower systemic treatment discontinuation rate (22.5% vs. 45.0%; p=0.037). No significant differences in adverse effects, oncological outcomes, and total follow-up period were observed between the two groups.
Conclusions
ADT+abiraterone/prednisone had lower PSA progression and systemic treatment discontinuation rates than ADT+docetaxel. In conclusion, further studies involving larger, double-blinded randomized trials with extended follow-up periods are necessary.

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