1.Clinical Utility of Monitoring Circulating Tumor DNA Using a Targeted Next-generation Sequencing Panel in Patients with Colorectal Cancer
Hyoeun SHIM ; Soobeen HEO ; Jiyu SUN ; Moon Ki CHOI ; Sung Chan PARK ; Chang Won HONG ; Seong Hoon KIM ; Seog-Yun PARK ; Sun-Young KONG ; Ji Yeon BAEK
Annals of Laboratory Medicine 2025;45(4):450-458
Background:
Circulating tumor DNA (ctDNA) profiling from peripheral blood allows relatively noninvasive monitoring of solid tumors; however, its utility post-surgery or chemotherapy in colorectal cancer remains underexplored. We evaluated the clinical implications of a ctDNA next-generation sequencing (NGS) panel post-surgery or chemotherapy in patients with colorectal cancer.
Methods:
We collected samples from 23 patients with colorectal cancer (17 men, median age 65 yrs) at baseline and post-surgery or chemotherapy at the National Cancer Center, Korea, between January 2021 and September 2023. ctDNA was analyzed using an NGS panel including 46 genes, and variant allele frequencies (VAFs) were determined. Followup samples were analyzed using the NGS panel or droplet digital PCR (ddPCR) when probes were available. Clinical status was compared with ctDNA results, and survival was analyzed using a time-dependent Cox model.
Results:
Mutations were identified in 13 out of 14 patients (92.8%) with stage II/III cancer and in all nine patients (100%) with stage IV cancer. Mutations were detected in KRAS (N = 15, 65%), APC (N = 8, 35%), TP53 (N = 7, 30%), PIK3CA (N = 5, 22%), and RET (N = 4, 17%). A 1% increase in KRAS and TP53 VAFs was associated with 48% and 32% increased mortality risk, respectively. Changes in VAF correlated well with clinical findings.
Conclusions
The detection of and an increase in KRAS and TP53 VAFs were associated with poor prognosis. ddPCR-based ctDNA monitoring results were comparable to those obtained with the NGS panel. ctDNA monitoring during treatment is clinically informative in managing colorectal cancer.
2.Simultaneous Prostate Target Biopsy Integrated With Radical Prostatectomy: A Pilot Study Omitting Preoperative Systematic Biopsy
Tae Young PARK ; Jae Young HWANG ; Seong Woo YUN ; Chang Wan HYUN ; Sung Goo YOON ; Seung Bin KIM ; Tae Il NOH ; Ji Sung SHIM ; Min Goo PARK ; Seok Ho KANG ; Sung Gu KANG
Journal of Urologic Oncology 2024;22(3):196-200
Purpose:
This study evaluates the viability of a new method that employs transperineal targeted biopsy with frozen section analysis immediately followed by robot-assisted radical prostatectomy (RARP), bypassing the traditional systematic biopsy deemed essential by current guidelines.
Materials and Methods:
Patient selection was based on the following inclusion criteria: those who underwent magnetic resonance imaging (MRI)-ultrasound fusion-targeted biopsy with frozen section analysis and concurrent RARP. Eligibility also required features indicative of Prostate Imaging-Reporting and Data System (PI-RADS) 5 lesion on multiparametric MRI, along with one of these additional criteria: (1) MRI evidence suggesting extracapsular extension (ECE) with a prostate-specific antigen (PSA) level >10 ng/mL, or (2) a PSA level > 20 ng/mL.
Results:
Twelve patients were enrolled in this study according to inclusion criteria. The median age (interquartile range) was 73.5 (69.5–75.3) years and PSA was 22.9 (17.0–29.9) ng/mL. Three patients had PI-RADS 5 lesions, and 9 had PI-RADS 5 lesions with findings of ECE. In all cases, the diagnosis based on frozen sections confirmed adenocarcinoma. Following confirmation, each patient underwent immediate RARP. According to the final pathology report, 2 patients had International Society of Urological Pathology (ISUP) grade 2 disease, 7 patients had ISUP grade 3, 1 had ISUP grade 4, and 2 had ISUP grade 5 disease. Four patients had stage pT2 disease, 3 had stage pT3a, and 5 had stage pT3b. The median immediate reporting time of the target biopsy frozen section was 20 (19.3–24.5) minutes. No perioperative complications related to target biopsy were observed.
Conclusion
For patients with a strong suspicion of prostate cancer and a PI-RADS 5 lesion, integrating simultaneous prostate frozen target biopsy with radical prostatectomy may offer a feasible treatment alternative, obviating the necessity for a preoperative systematic biopsy.
3.Retreatment of implant-supported hybrid prosthesis with existing metal framework: a case report
Sung-Hoon CHAI ; Han-Na LEE ; Ji-Suk SHIM ; Jeong-Yol LEE
The Journal of Korean Academy of Prosthodontics 2024;62(4):339-348
An implant-supported hybrid prosthesis is a fixed restoration composed of a metal framework and acrylic resin, offering advantages such as aesthetics, function, phonetics, and lip support, while providing retention and support through the splinting of implants with the metal framework. However, poor oral hygiene can lead to peri-implantitis, and long-term use may result in wear or fracture of the artificial teeth, causing reduced masticatory function and loss of vertical dimension. Traditionally, a new metal framework is cast for remanufacturing, but if the existing framework is intact, it can be reused for a more rapid and simplified protocol. This case involves a 58-year-old male patient with peri-implantitis, where some implants were removed and treated, and the superstructure was remanufactured using the existing metal framework. By preserving the existing metal framework during the remanufacturing of the implant-supported hybrid prosthesis, the treatment time and number of visits were reduced, minimizing patient discomfort.
4.The association between the severity of erectile dysfunction and left ventricular diastolic dysfunction in patients with and without cardiovascular disease
Chang Wan HYUN ; Jae Young HWANG ; Seong Woo YUN ; Tae Young PARK ; Sung Goo YOON ; Seung Bin KIM ; Tae Il NOH ; Sung Gu KANG ; Seok Ho KANG ; Dong-Hyuk CHO ; Ji Sung SHIM
Investigative and Clinical Urology 2024;65(2):165-172
Purpose:
Erectile dysfunction (ED) is considered a microvascular disorder and serves as an indicator for the potential development of cardiovascular disease (CVD). Although left ventricular diastolic dysfunction (LVDD) reflects early myocardial damage caused by microvascular disorders, the association between ED and LVDD remains poorly elucidated.
Materials and Methods:
A cross-sectional study was conducted on 123 patients with ED. They underwent RigiScan, and conventional echocardiography, and attempted International Index of Erectile Function (IIEF) questionnaire. ED severity was evaluated by measuring changes in the penile base circumference and duration of penile rigidity (≥70%) during erection. The early diastolic velocity of mitral inflow (E) and early diastolic velocity of the mitral annulus (e′) were measured using echocardiography. The patients were grouped based on the presence of CVD.
Results:
Among 123 patients, 29 had CVD and 94 did not. Patients with CVD exhibited more pronounced ED and more severe LVDD. Associations between increased penile circumference with echocardiographic parameters were more prominent in patients with CVD than in those without CVD (ΔTtop and e′ wave, r=0.508 and r=0.282, respectively, p for interaction=0.033; ΔTbase and E/e′ ratio, r=-0.338 and r=-0.293, respectively, p for interaction <0.001). In the multivariate linear regression, the increase of penile base circumference was an independent risk factor for LVDD (e′, B=0.503; E/e′ ratio, B=-1.416, respectively, p<0.001).
Conclusions
ED severity correlated well with LV diastolic dysfunction, particularly in the presence of CVD. This study highlighted the potential role of ED assessment as early indicator of CVD development.
5.Retreatment of implant-supported hybrid prosthesis with existing metal framework: a case report
Sung-Hoon CHAI ; Han-Na LEE ; Ji-Suk SHIM ; Jeong-Yol LEE
The Journal of Korean Academy of Prosthodontics 2024;62(4):339-348
An implant-supported hybrid prosthesis is a fixed restoration composed of a metal framework and acrylic resin, offering advantages such as aesthetics, function, phonetics, and lip support, while providing retention and support through the splinting of implants with the metal framework. However, poor oral hygiene can lead to peri-implantitis, and long-term use may result in wear or fracture of the artificial teeth, causing reduced masticatory function and loss of vertical dimension. Traditionally, a new metal framework is cast for remanufacturing, but if the existing framework is intact, it can be reused for a more rapid and simplified protocol. This case involves a 58-year-old male patient with peri-implantitis, where some implants were removed and treated, and the superstructure was remanufactured using the existing metal framework. By preserving the existing metal framework during the remanufacturing of the implant-supported hybrid prosthesis, the treatment time and number of visits were reduced, minimizing patient discomfort.
6.Retreatment of implant-supported hybrid prosthesis with existing metal framework: a case report
Sung-Hoon CHAI ; Han-Na LEE ; Ji-Suk SHIM ; Jeong-Yol LEE
The Journal of Korean Academy of Prosthodontics 2024;62(4):339-348
An implant-supported hybrid prosthesis is a fixed restoration composed of a metal framework and acrylic resin, offering advantages such as aesthetics, function, phonetics, and lip support, while providing retention and support through the splinting of implants with the metal framework. However, poor oral hygiene can lead to peri-implantitis, and long-term use may result in wear or fracture of the artificial teeth, causing reduced masticatory function and loss of vertical dimension. Traditionally, a new metal framework is cast for remanufacturing, but if the existing framework is intact, it can be reused for a more rapid and simplified protocol. This case involves a 58-year-old male patient with peri-implantitis, where some implants were removed and treated, and the superstructure was remanufactured using the existing metal framework. By preserving the existing metal framework during the remanufacturing of the implant-supported hybrid prosthesis, the treatment time and number of visits were reduced, minimizing patient discomfort.
7.Retreatment of implant-supported hybrid prosthesis with existing metal framework: a case report
Sung-Hoon CHAI ; Han-Na LEE ; Ji-Suk SHIM ; Jeong-Yol LEE
The Journal of Korean Academy of Prosthodontics 2024;62(4):339-348
An implant-supported hybrid prosthesis is a fixed restoration composed of a metal framework and acrylic resin, offering advantages such as aesthetics, function, phonetics, and lip support, while providing retention and support through the splinting of implants with the metal framework. However, poor oral hygiene can lead to peri-implantitis, and long-term use may result in wear or fracture of the artificial teeth, causing reduced masticatory function and loss of vertical dimension. Traditionally, a new metal framework is cast for remanufacturing, but if the existing framework is intact, it can be reused for a more rapid and simplified protocol. This case involves a 58-year-old male patient with peri-implantitis, where some implants were removed and treated, and the superstructure was remanufactured using the existing metal framework. By preserving the existing metal framework during the remanufacturing of the implant-supported hybrid prosthesis, the treatment time and number of visits were reduced, minimizing patient discomfort.
8.Simultaneous Prostate Target Biopsy Integrated With Radical Prostatectomy: A Pilot Study Omitting Preoperative Systematic Biopsy
Tae Young PARK ; Jae Young HWANG ; Seong Woo YUN ; Chang Wan HYUN ; Sung Goo YOON ; Seung Bin KIM ; Tae Il NOH ; Ji Sung SHIM ; Min Goo PARK ; Seok Ho KANG ; Sung Gu KANG
Journal of Urologic Oncology 2024;22(3):196-200
Purpose:
This study evaluates the viability of a new method that employs transperineal targeted biopsy with frozen section analysis immediately followed by robot-assisted radical prostatectomy (RARP), bypassing the traditional systematic biopsy deemed essential by current guidelines.
Materials and Methods:
Patient selection was based on the following inclusion criteria: those who underwent magnetic resonance imaging (MRI)-ultrasound fusion-targeted biopsy with frozen section analysis and concurrent RARP. Eligibility also required features indicative of Prostate Imaging-Reporting and Data System (PI-RADS) 5 lesion on multiparametric MRI, along with one of these additional criteria: (1) MRI evidence suggesting extracapsular extension (ECE) with a prostate-specific antigen (PSA) level >10 ng/mL, or (2) a PSA level > 20 ng/mL.
Results:
Twelve patients were enrolled in this study according to inclusion criteria. The median age (interquartile range) was 73.5 (69.5–75.3) years and PSA was 22.9 (17.0–29.9) ng/mL. Three patients had PI-RADS 5 lesions, and 9 had PI-RADS 5 lesions with findings of ECE. In all cases, the diagnosis based on frozen sections confirmed adenocarcinoma. Following confirmation, each patient underwent immediate RARP. According to the final pathology report, 2 patients had International Society of Urological Pathology (ISUP) grade 2 disease, 7 patients had ISUP grade 3, 1 had ISUP grade 4, and 2 had ISUP grade 5 disease. Four patients had stage pT2 disease, 3 had stage pT3a, and 5 had stage pT3b. The median immediate reporting time of the target biopsy frozen section was 20 (19.3–24.5) minutes. No perioperative complications related to target biopsy were observed.
Conclusion
For patients with a strong suspicion of prostate cancer and a PI-RADS 5 lesion, integrating simultaneous prostate frozen target biopsy with radical prostatectomy may offer a feasible treatment alternative, obviating the necessity for a preoperative systematic biopsy.
9.Clinical Validation of the Unparalleled Sensitivity of the Novel Allele-Discriminating Priming System Technology–Based EGFR Mutation Assay in Patients with Operable Non–Small Cell Lung Cancer
Il-Hyun PARK ; Dae-Soon SON ; Yoon-La CHOI ; Ji-Hyeon CHOI ; Ji-Eun PARK ; Yeong Jeong JEON ; Minseob CHO ; Hong Kwan KIM ; Yong Soo CHOI ; Young Mog SHIM ; Jung Hee KANG ; Suzy PARK ; Jinseon LEE ; Sung-Hyun KIM ; Byung-Chul LEE ; Jhingook KIM
Cancer Research and Treatment 2024;56(1):81-91
Purpose:
Recently, we developed allele-discriminating priming system (ADPS) technology. This method increases the sensitivity of conventional quantitative polymerase chain reaction up to 100 folds, with limit of detection, 0.01%, with reinforced specificity. This prospective study aimed to develop and validate the accuracy of ADPS epidermal growth factor receptor (EGFR) Mutation Test Kit using clinical specimens.
Materials and Methods:
In total 189 formalin-fixed paraffin-embedded tumor tissues resected from patients with non–small cell lung cancer were used to perform a comparative evaluation of the ADPS EGFR Mutation Test Kit versus the cobas EGFR Mutation Test v2, which is the current gold standard. When the two methods had inconsistent results, next-generation sequencing–based CancerSCAN was utilized as a referee.
Results:
The overall agreement of the two methods was 97.4% (93.9%-99.1%); the positive percent agreement, 95.0% (88.7%-98.4%); and the negative percent agreement, 100.0% (95.9%-100.0%). EGFR mutations were detected at a frequency of 50.3% using the ADPS EGFR Mutation Test Kit and 52.9% using the cobas EGFR Mutation Test v2. There were 10 discrepant mutation calls between the two methods. CancerSCAN reproduced eight ADPS results. In two cases, mutant allele fraction was ultra-low at 0.02% and 0.06%, which are significantly below the limit of detection of the cobas assay and CancerSCAN. Based on the EGFR genotyping by ADPS, the treatment options could be switched in five patients.
Conclusion
The highly sensitive and specific ADPS EGFR Mutation Test Kit would be useful in detecting the patients who have lung cancer with EGFR mutation, and can benefit from the EGFR targeted therapy.
10.A Nationwide Study on HER2-Low Breast Cancer in South Korea: Its Incidence of 2022 Real World Data and the Importance of Immunohistochemical Staining Protocols
Min Chong KIM ; Eun Yoon CHO ; So Yeon PARK ; Hee Jin LEE ; Ji Shin LEE ; Jee Yeon KIM ; Ho-chang LEE ; Jin Ye YOO ; Hee Sung KIM ; Bomi KIM ; Wan Seop KIM ; Nari SHIN ; Young Hee MAENG ; Hun Soo KIM ; Sun Young KWON ; Chungyeul KIM ; Sun-Young JUN ; Gui Young KWON ; Hye Jeong CHOI ; So Mang LEE ; Ji Eun CHOI ; Ae Ri AN ; Hyun Joo CHOI ; EunKyung KIM ; Ahrong KIM ; Ji-Young KIM ; Jeong Yun SHIM ; Gyungyub GONG ; Young Kyung BAE
Cancer Research and Treatment 2024;56(4):1096-1104
Purpose:
Notable effectiveness of trastuzumab deruxtecan in patients with human epidermal growth factor receptor 2 (HER2)–low advanced breast cancer (BC) has focused pathologists’ attention. We studied the incidence and clinicopathologic characteristics of HER2-low BC, and the effects of immunohistochemistry (IHC) associated factors on HER2 IHC results.
Materials and Methods:
The Breast Pathology Study Group of the Korean Society of Pathologists conducted a nationwide study using real-world data on HER2 status generated between January 2022 and December 2022. Information on HER2 IHC protocols at each participating institution was also collected.
Results:
Total 11,416 patients from 25 institutions included in this study. Of these patients, 40.7% (range, 6.0% to 76.3%) were classified as HER2-zero, 41.7% (range, 10.5% to 69.1%) as HER2-low, and 17.5% (range, 6.7% to 34.0%) as HER2-positive. HER2-low tumors were associated with positive estrogen receptor and progesterone receptor statuses (p < 0.001 and p < 0.001, respectively). Antigen retrieval times (≥ 36 minutes vs. < 36 minutes) and antibody incubation times (≥ 12 minutes vs. < 12 minutes) affected on the frequency of HER2 IHC 1+ BC at institutions using the PATHWAY HER2 (4B5) IHC assay and BenchMark XT or Ultra staining instruments. Furthermore, discordant results between core needle biopsy and subsequent resection specimen HER2 statuses were observed in 24.1% (787/3,259) of the patients.
Conclusion
The overall incidence of HER2-low BC in South Korea concurs with those reported in previously published studies. Significant inter-institutional differences in HER2 IHC protocols were observed, and it may have impact on HER2-low status. Thus, we recommend standardizing HER2 IHC conditions to ensure precise patient selection for targeted therapy.

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