1.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
2.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
3.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
4.The effect of heat to remove cement on implant titanium abutment and screw.
Hyo Gyoung YI ; Ki Sung GIL ; Jung Jin LEE ; Seung Geun AHN ; Jae Min SEO
The Journal of Korean Academy of Prosthodontics 2018;56(3):179-187
PURPOSE: The purpose of this study was to investigate the effect of heat applied to disintegrate cement on the removal torque value and fracture strength of titanium abutment and abutment screw. MATERIALS AND METHODS: Implants, titanium abutments and abutment screws were prepared for each 20 piece. Implant abutments and screws were classified as the control group in which no heat was applied and the experimental group was heated in a vacuum furnace to 450℃ for 8 minutes and cooled in air. The abutments and screws were connected to the implants with 30 Ncm tightening torque at interval 10 minutes and the removal torque value was measured 15 minutes later. And the fracture strength of abutment screw was measured using universal testing machine. RESULTS: The mean removal torque value was 27.84 ± 1.07 Ncm in the control group and 26.55 ± 1.56 Ncm in the experimental group and showed statistically significant difference (P < .05). The mean fracture strength was 731.47 ± 39.46 N in the control group and 768.58 ± 46.73 N in the experimental group and showed statistically no significant difference (P > .05). CONCLUSION: The heat applied for cement disintegration significantly reduced the removal torque value of the abutment screw and did not significantly affect fracture strength of the abutment screw. Therefore, in the case of applying heat to disintegrate cement it is necessary to separate the abutment screw or pay attention to the reuse of the heated screw. However further studies are needed to evaluate the clinical reuse of the heated screw.
Hot Temperature*
;
Titanium*
;
Torque
;
Vacuum
5.Comparison of the Diagnostic Accuracies of 1.5T and 3T Stress Myocardial Perfusion Cardiovascular Magnetic Resonance for Detecting Significant Coronary Artery Disease.
Jee Young MIN ; Sung Min KO ; In Young SONG ; Jung Geun YI ; Hweung Kon HWANG ; Je Kyoun SHIN
Korean Journal of Radiology 2018;19(6):1007-1020
OBJECTIVE: To compare the diagnostic performance of cardiovascular magnetic resonance (CMR) myocardial perfusion at 1.5- and 3-tesla (T) for detecting significant coronary artery disease (CAD), with invasive coronary angiography (ICA) as the reference method. MATERIALS AND METHODS: We prospectively enrolled 281 patients (age 62.4 ± 8.3 years, 193 men) with suspected or known CAD who had undergone 1.5T or 3T CMR and ICA. Two independent radiologists interpreted perfusion defects. With ICA as the reference standard, the diagnostic performance of 1.5T and 3T CMR for identifying significant CAD (≥ 50% diameter reduction of the left main and ≥ 70% diameter reduction of other epicardial arteries) was determined. RESULTS: No differences were observed in baseline characteristics or prevalence of CAD and old myocardial infarction (MI) using 1.5T (n = 135) or 3T (n = 146) systems. Sensitivity, specificity, positive and negative predictive values, and area under the receiver operating characteristic curve (AUC) for detecting significant CAD were similar between the 1.5T (84%, 64%, 74%, 76%, and 0.75 per patient and 68%, 83%, 66%, 84%, and 0.76 per vessel) and 3T (80%, 71%, 71%, 80%, and 0.76 per patient and 75%, 86%, 64%, 91%, and 0.81 per vessel) systems. In patients with multi-vessel CAD without old MI, the sensitivity, specificity, and AUC with 3T were greater than those with 1.5T on a per-vessel basis (71% vs. 36%, 92% vs. 69%, and 0.82 vs. 0.53, respectively). CONCLUSION: 3T CMR has similar diagnostic performance to 1.5T CMR in detecting significant CAD, except for higher diagnostic performance in patients with multi-vessel CAD without old MI.
Area Under Curve
;
Atherosclerosis
;
Coronary Angiography
;
Coronary Artery Disease*
;
Coronary Vessels*
;
Humans
;
Magnetic Resonance Imaging
;
Methods
;
Myocardial Infarction
;
Perfusion*
;
Prevalence
;
Prospective Studies
;
ROC Curve
;
Sensitivity and Specificity
6.The Alteration of % Carbohydrate-Deficient Transferrin and Gamma-Glutamyl Transferase Levels of Alcohol-Dependent Inpatients according to Age and Sex.
Gyo Sik JIN ; Jung Seo YI ; Boung Chul LEE ; Jee Wook KIM ; Ihn Geun CHOI
Journal of the Korean Society of Biological Psychiatry 2017;24(4):219-224
OBJECTIVES: This study sought to investigate the relationship between age, sex and alterations in levels of % carbohydrate-deficient transferrin (%CDT) and gamma-glutamyl transferase (GGT) in patients admitted with alcohol dependence. METHODS: The study retrospectively enrolled 187 patients who were diagnosed with alcohol dependence according to the Diagnostic and Statistical Manual of Mental Disorders-Fourth edition (DSM-IV) and were admitted into a closed ward in Hallym University Hangang Sacred Heart Hospital from 2009 to 2012 and Hallym University Kangnam Sacred Heart Hospital from 2012 to 2017. Demographic factors (age, sex) and biochemical markers [%CDT, GGT, mean corpuscular volume (MCV), aspartate transferase (AST), alanine transferase (ALT)] were collected by reviewing medical records. Alterations in the levels of %CDT and GGT in different groups for each demographic factor were compared after correcting for confounding variables (age, initial %CDT, GGT, MCV, AST, ALT). RESULTS: Decreased %CDT and GGT were observed during the period of abstinence after admission. The normalization period for %CDT increased with age, while the normalization period for GGT was longer in female patients. CONCLUSIONS: These results suggest that alcohol-dependent patients that vary in age have different alterations in %CDT, while different sexes have different alterations in GGT. Age and sex can be potential indicators of treatment response after abstinence in patients with alcohol dependence. Further studies are needed to evaluate the relationship between these factors with regards to physiological and hematological changes in alcohol dependence.
Alanine
;
Alcoholism
;
Aspartic Acid
;
Biomarkers
;
Confounding Factors (Epidemiology)
;
Demography
;
Erythrocyte Indices
;
Female
;
Heart
;
Humans
;
Inpatients*
;
Medical Records
;
Retrospective Studies
;
Transferases*
;
Transferrin*
7.Comparison of two- and three-dimensional sonography for the prediction of the extrathyroidal extension of papillary thyroid carcinomas.
Yang Seon YI ; Sang Soo KIM ; Won Jin KIM ; Min Jung BAE ; Ji Hyun KANG ; Bo Gwang CHOI ; Yun Kyung JEON ; Bo Hyun KIM ; Byung Joo LEE ; Soo Geun WANG ; In Joo KIM ; Yong Ki KIM
The Korean Journal of Internal Medicine 2016;31(2):313-322
BACKGROUND/AIMS: The purpose of this study was to compare the diagnostic validity of two-dimensional (2D) and three-dimensional (3D) ultrasonography (US) when predicting the extrathyroidal extension of papillary thyroid cancer. METHODS: All 2D data were interpreted in real time and 3D data were stored, rendered using tomographic ultrasound imaging (TUI), and then reviewed retrospectively. RESULTS: Extrathyroidal extension was present in 17 papillary thyroid cancers(24.3%) on pathology reports. The presence of contact was significantly associated with extrathyroidal extension on both 2D and 3D US (p = 0.007 and p = 0.003), and the sensitivity and specificity were not significantly different between 2D and 3D US (p = 1.000 and p = 0.754). The coexistence of protrusion and contact was not significantly associated with extrathyroidal extension on either 2D or 3D sonogram. CONCLUSIONS: Three-dimensional images rendered with TUI algorithms alone do not seem to be markedly superior to real-time 2D US in predicting the extrathyroidal extension of papillary thyroid cancer.
Adolescent
;
Adult
;
Aged
;
Algorithms
;
Carcinoma/*diagnostic imaging/pathology
;
Female
;
Humans
;
*Image Interpretation, Computer-Assisted
;
*Imaging, Three-Dimensional
;
Male
;
Middle Aged
;
Neoplasm Invasiveness
;
Neoplasm Staging
;
Predictive Value of Tests
;
Retrospective Studies
;
Thyroid Neoplasms/*diagnostic imaging/pathology
;
Ultrasonography/*methods
;
Young Adult
8.Changes in the Flow-Volume Curve According to the Degree of Stenosis in Patients With Unilateral Main Bronchial Stenosis.
Yousang KO ; Jung Geun YOO ; Chin A YI ; Kyung Soo LEE ; Kyeongman JEON ; Sang Won UM ; Won Jung KOH ; Gee Young SUH ; Man Pyo CHUNG ; O Jung KWON ; Hojoong KIM
Clinical and Experimental Otorhinolaryngology 2015;8(2):161-166
OBJECTIVES: The shape of the flow-volume (F-V) curve is known to change to showing a prominent plateau as stenosis progresses in patients with tracheal stenosis. However, no study has evaluated changes in the F-V curve according to the degree of bronchial stenosis in patients with unilateral main bronchial stenosis. METHODS: We performed an analysis of F-V curves in 29 patients with unilateral bronchial stenosis with the aid of a graphic digitizer between January 2005 and December 2011. RESULTS: The primary diseases causing unilateral main bronchial stenosis were endobronchial tuberculosis (86%), followed by benign bronchial tumor (10%), and carcinoid (3%). All unilateral main bronchial stenoses were classified into one of five grades (I, < or =25%; II, 26%-50%; III, 51%-75%; IV, 76%-90%; V, >90% to near-complete obstruction without ipsilateral lung collapse). A monophasic F-V curve was observed in patients with grade I stenosis and biphasic curves were observed for grade II-IV stenosis. Both monophasic (81%) and biphasic shapes (18%) were observed in grade V stenosis. After standardization of the biphasic shape of the F-V curve, the breakpoints of the biphasic curve moved in the direction of high volume (x-axis) and low flow (y-axis) according to the progression of stenosis. CONCLUSION: In unilateral bronchial stenosis, a biphasic F-V curve appeared when bronchial stenosis was >25% and disappeared when obstruction was near complete. In addition, the breakpoint moved in the direction of high volume and low flow with the progression of stenosis.
Bronchi
;
Carcinoid Tumor
;
Constriction, Pathologic*
;
Humans
;
Lung
;
Maximal Expiratory Flow-Volume Curves
;
Spirometry
;
Tracheal Stenosis
;
Tuberculosis
9.A Prospective, Long-Term Follow-Up Study of 1,444 nm Nd:YAG Laser: A New Modality for Treating Axillary Bromhidrosis.
Sung Kyu JUNG ; Hee Won JANG ; Hee Joo KIM ; Sang Geun LEE ; Kyung Goo LEE ; Sun Yae KIM ; Sang Min YI ; Jae Hwan KIM ; Il Hwan KIM
Annals of Dermatology 2014;26(2):184-188
BACKGROUND: Surgery for bromhidrosis has a high risk of complications such as hematoma and necrosis. New nonsurgical methods may reduce the burden on surgery and the risks for the patient. OBJECTIVE: This study was performed to evaluate the efficacy and side-effects of the 1,444 nm Nd:YAG interstitial laser for treating axillary bromhidrosis. METHODS: Eighteen bromhidrosis patients were treated with a 1,444 nm Nd:YAG laser at Korea University Ansan Hospital. The post-treatment follow-up was 6 months. After the procedure, we confirmed apocrine gland destruction through histopathological examination. At each follow-up, we measured the severity of the remaining odor, postoperative pain, degree of mobility restriction, and overall satisfaction. RESULTS: After 180 days of follow-up, malodor elimination was good in 20 axillae, fair in 12 axillae, and poor in four axillae. At the end point of the study, 14 patients were totally satisfied with the laser treatment, three patients were partially satisfied, and one patient was disatisfied. Pain and limitation of mobility were significantly reduced within 1 week post-operatively, and were almost resolved within 4 weeks post-operatively. A histopathological examination revealed decreased density and significant alterations to the apocrine glands. CONCLUSION: Subdermal coagulation treatment with a 1,444 nm Nd:YAG interstitial laser may be a less invasive and effective therapy for axillary bromhidrosis.
Apocrine Glands
;
Axilla
;
Follow-Up Studies*
;
Gyeonggi-do
;
Hematoma
;
Humans
;
Korea
;
Lasers, Solid-State
;
Necrosis
;
Odors
;
Pain, Postoperative
;
Prospective Studies*
10.The Cumulative Recurrence Rate of Colonic Adenomatous Polyps After Colon Polypectomy in a Single University Hospital Health Check-up Examinees.
Hye Lim HWANG ; Woo Geun JUNG ; Yun Jin KIM ; Sang Yeoup LEE ; Byung Mann CHO ; Yu Hyeon YI ; Young Hye CHO ; Young Jin TAK ; Dong Wook JEONG ; Jeong Gyu LEE
Journal of Agricultural Medicine & Community Health 2014;39(3):137-145
OBJECTIVES: Colonoscopy is a popular tool for screening for colon cancer throughout the world. The incidence of polypectomy and follow-up colonoscopy are persistently increasing but the studies about follow-up test after polypectomy are still lack of its domestic sources. This study is designed to look into the recurrence rate of colon polyps and risk factors after polypectomy. METHODS: This is a retrospective study by reviewing medical charts of 147 patients who underwent polypectomy and follow-up colonoscopy from Jan. 2000 to Mar. 2008. The Kudo classification was used to describe the polyps found in the colonoscopy. The follow-up period was defined as the term between polypectomy and the first colonoscopy follow up. RESULTS: Seventy six point two percent of the enrolled patient were male and the mean age was 56.5 +/- 8.1. Mean follow-up period was 24.9 +/- 13.7 (6 - 65) months. The cumulative recurrence rate of 1 year was 11.6%. The rate of 2 years was 36.7% and that of 3 years was 55.8%. The number of polyps was the factor which statistically showed significant relation of its recurrence rate. The histological morphology characteristic of polyps could be one independent factor which may be associated to the recurrence of polyps. CONCLUSIONS: The importance of colonoscopy follow up after polypectomy was clearly emphasized through the cumulative recurrence rate of 55.8%. Therefore, there is a need for more domestic studies with a large number of patients about the recurrence of polyps after polypectomy.
Adenomatous Polyps*
;
Classification
;
Colon*
;
Colonic Neoplasms
;
Colonic Polyps
;
Colonoscopy
;
Follow-Up Studies
;
Humans
;
Incidence
;
Male
;
Mass Screening
;
Polyps
;
Recurrence*
;
Retrospective Studies
;
Risk Factors

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