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.Alveolar Soft Part Sarcoma of the Extremities or Trunk: Clinical Manifestation and Treatment Results
Sang Hyun CHO ; Chang-Bae KONG ; Dae-Geun JEON ; Hyun Woo KIM ; Won Seok SONG
The Journal of the Korean Orthopaedic Association 2024;59(1):15-21
Purpose:
The purpose of this study was to evaluate the clinical characteristics and treatment outcomes of alveolar soft part sarcoma (ASPS) of the extremities and trunk and investigate the prognostic factors.
Materials and Methods:
Forty patients presenting with ASPS in the extremities or trunk between 2001 and 2021 were reviewed retrospectively. We evaluated the clinical manifestations at presentation, local recurrence, and metastasis after treatment. The survival rates and prognostic factors affecting survival were analyzed. Only patients who were followed up for more than one year were included in the study. The mean follow-up time was 58 months (range, 12–120).
Results:
The average age of the patients was 26 years (range, 12–54) and the primary tumor developed mainly in the thigh (23 patients, 57.5%). The average size of the tumor was 8.7 cm and metastasis at presentation was seen in 28 (70%) patients. The overall survival rates at five-years and 10-years were 53.7% and 34.5%, respectively. Metastasis at presentation was related to poor survival (p=0.001).
Conclusion
ASPS in the extremities or trunk present with a high rate of metastasis and patients with metastasis showed poorer survival.In the future, further efforts to develop novel therapies like target therapy or immunotherapy for the treatment of metastatic patients are warranted.
5.Mortality associated with the neutrophil-lymphocyte ratio in septic acute kidney injury requiring continuous renal replacement therapy
Jinwoo LEE ; Jeongin SONG ; Seong Geun KIM ; Donghwan YUN ; Min Woo KANG ; Dong Ki KIM ; Kook-Hwan OH ; Kwon Wook JOO ; Yon Su KIM ; Seung Seok HAN ; Yong Chul KIM
Kidney Research and Clinical Practice 2024;43(3):337-347
Sepsis is an important cause of acute kidney injury in intensive care unit patients, accounting for 15% to 20% of renal replacement therapy prescriptions. The neutrophil-lymphocyte ratio (NLR), a marker of systemic inflammation and immune response, was previously associated with the mortality rate in multiple conditions. Herein, we aimed to examine how the NLR relates to the mortality rate in septic acute kidney injury patients requiring continuous renal replacement therapy (CRRT). Methods: The NLRs of 6 and 18 were used for dividing NLRs into three groups and, thus, were set higher than those in previous studies accounting for steroid use in sepsis. Cox proportional hazard models were used to calculate hazard ratios of mortality outcomes before and after matching their propensity scores. Results: A total of 798 septic acute kidney injury patients requiring CRRT were classified into three NLR groups (low, <6 [n = 277]; medium, ≥6 and <18 [n = 115], and high, ≥18 [n = 406], respectively). The in-hospital mortality rates per group were 83.4%, 74.8%, and 70.4%, respectively (p < 0.001). Per the univariable Cox survival analysis after propensity score matching, a high NLR was related to approximately 24% reduced mortality. The survival benefit of the high NLR group compared with the other two groups remained consistent across all subgroups, showing any p for interactions of >0.05. Conclusion: A high NLR is associated with better clinical outcomes, such as low mortality, in septic acute kidney injury patients undergoing CRRT.
6.Percutaneous radiofrequency ablation of hepatocellular carcinoma in a recent cohort at a tertiary cancer center: incidence and factors associated with major complications and unexpected hospitalization events
Min Geun JO ; Min Woo LEE ; Soohyun AHN ; Tae Wook KANG ; Kyoung Doo SONG ; Dong Ik CHA ; Ji Hye MIN ; Hyunchul RHIM
Ultrasonography 2023;42(1):41-53
Purpose:
This study aimed to assess the incidence of and factors associated with major complications, delayed discharge, and emergency room (ER) visits or readmission after percutaneous radiofrequency ablation (RFA) for single hepatocellular carcinoma (HCC) <3 cm in a recent cohort at a tertiary cancer center.
Methods:
A total of 188 patients with treatment-naïve single HCCs <3 cm who underwent RFA between January 2018 and April 2021 were included in the analysis. Univariable and multivariable logistic regression analyses were performed to identify the factors associated with major complications, delayed discharge, and ER visits or readmission. Local tumor progression (LTP) and overall survival were estimated using the Kaplan-Meier method and Cox proportional-hazards regression analysis.
Results:
Major complications occurred in 3.2% (6/188) of the patients. The longest diameter of the ablation zone was significantly larger in patients with major complications (P=0.023). Delayed discharge occurred in 5.8% (9/188) of the patients, for which albumin-bilirubin grade 3 was identified as an important determinant. No variables other than major complications were significantly associated with ER visits or readmission, which occurred in 7.0% (13/188) of the patients. Major complications, delayed discharge, and ER visits or readmission were not substantially related to the post-treatment outcomes of LTP and overall survival.
Conclusion
This study confirmed RFA as a highly safe procedure for single HCCs <3 cm, despite the rapidly changing RFA techniques in the most recent cohort. A large ablation zone and poor liver function were predictors of major complications and delayed discharge, respectively.
7.Suction Drain Tip Cultures in Predicting a Surgical Site Infection
Chunghwan KIM ; Jae-Woo PARK ; Myeong Geun SONG ; Han-Suk CHOI
Asian Spine Journal 2023;17(3):470-476
Materials and Methods:
This study retrospectively included 1,415 consecutive patients who underwent spinal surgery between January 2016 and December 2021. Patients diagnosed with infectious diseases were excluded. Prophylactic antibiotics were administered intraoperatively and 24 hours postoperatively. Drains were removed when the volume of postoperative fluid drainage was <50 mL and <100 mL in patients who underwent cervical and thoracic surgery and lumbar surgery in the preceding 24 hours, respectively, and cultures were made. We evaluated the correlation between the results of positive drain tip culture and SSI.
Results:
Positive drain tip cultures were found in 51 cases (3.6%). SSI was identified in 34 cases (2.4%). The most frequently isolated microorganism was methicillin-resistant Staphylococcus epidermidis (61.8%). The sensitivity, specificity, and positive, and negative predictive values of drain tip culture were 50.0%, 97.4%, 32.1%, and 98.8%, respectively. The same bacteria were isolated from the surgical lesion in 16 of 17 SSI cases with a positive drain tip culture, thereby giving a bacteria matching rate between tissue culture and drain tip culture of 94.1%. The number of surgery levels, drain remaining period, and drain tip culture positivity were significantly increased in the SSI group.
Conclusions
Drain tip cultures might be useful for predicting SSI. Drain tip culture had a high positivity rate in the SSI group, and the coincidence rate for the causative pathogen was high.
8.Patient related and tooth related risk factor of tooth loss after periodontal surgical treatment - prospective study
Jong-Geun SONG ; Sung-Jo LEE ; Pham-Duong HIEU ; Hyun-Seung SHIN ; In-Woo CHO
Journal of Dental Rehabilitation and Applied Science 2023;39(1):1-8
Purpose:
The purpose of this study is to analyze the prognostic factors related to tooth loss after 5 years of periodontal surgery in periodontal disease patients.
Materials and Methods:
From January to December 2017, 22 patients and 124 teeth who underwent periodontal treatment through periodontal surgery were targeted. At the time of treatment, the measured values were evaluated after recording the maximum probing depth, average periodontal probing depth, number of root, furcation involvement, pulp vitality, and prosthesis state on the day of periodontal surgery. Based on the initial records at the time of visit, patient-related factors were gender, age, smoking, tooth loss due to periodontal disease at the time of first visit, diabetes, and maintenance period.The influence of each factor on tooth loss was evaluated.
Results:
As a result of examining the influence of tooth-related factors on tooth loss, the maximum probing depth depth (P: 0.000), bone loss (P: 0.021) was found to have a significant effect on tooth loss.
Conclusion
As a result of examining the influence of patient-related factors on tooth loss, any variables had no significant effect.Bone loss, maximum probing depth acted as statistically significant prognostic factors for tooth loss in patients who underwent periodontal surgery.
9.The Effect of Hounsfield Unit Value with Conventional Computed Tomography and Intraoperative Distraction on Postoperative Intervertebral Height Reduction in Patients Following Stand-Alone Anterior Cervical Discectomy and Fusion
Jun Seok LEE ; Dong Wuk SON ; Su Hun LEE ; Sung Soon KI ; Sang Weon LEE ; Geun Sung SONG ; Joon Bum WOO ; Young Ha KIM
Journal of Korean Neurosurgical Society 2022;65(1):96-106
Objective:
: The most common complication of anterior cervical discectomy and fusion (ACDF) is cage subsidence and maintenance of disc height affects postoperative clinical outcomes. We considered cage subsidence as an inappropriate indicator for evaluating preservation of disc height. Thus, this study aimed to consider patients with complications such as reduced total disc height compared to that before surgery and evaluate the relevance of several factors before ACDF.
Methods:
: We retrospectively reviewed the medical records of 40 patients who underwent stand-alone single-level ACDF using a polyetheretherketone (PEEK) cage at our institution between January 2012 and December 2018. Our study population comprised 19 male and 21 female patients aged 24–70 years. The minimum follow-up period was 1 year. Twenty-seven patients had preoperative bone mineral density (BMD) data on dual-energy X-ray absorptiometry. Clinical parameters included sex, age, body mass index, smoking history, and prior medical history. Radiologic parameters included the C2-7 cobb angle, segmental angle, sagittal vertical axis, disc height, and total intervertebral height (TIH) at the preoperative and postoperative periods. Cage decrement was defined as the reduction in TIH at the 6-month follow-up compared to preoperative TIH. To evaluate the bone quality, Hounsfield unit (HU) value was calculated in the axial and sagittal images of conventional computed tomography.
Results:
: Lumbar BMD values and cervical HU values were significantly correlated (r=0.733, p<0.001). We divided the patients into two groups based on cage decrement, and 47.5% of the total patients were regarded as cage decrement. There were statistically significant differences in the parameters of measuring the HU value of the vertebra and intraoperative distraction between the two groups. Using these identified factors, we performed a receiver operating characteristic (ROC) curve analysis. Based on the ROC curve, the cut-off point was 530 at the HU value of the upper cortical and cancellous vertebrae (p=0.014; area under the curve [AUC], 0.727; sensitivity, 94.7%; specificity, 42.9%) and 22.41 at intraoperative distraction (p=0.017; AUC, 0.722; sensitivity, 85.7%; specificity, 57.9%). Using this value, we converted these parameters into a bifurcated variable and assessed the multinomial regression analysis to evaluate the risk factors for cage decrement in ACDF. Intraoperative distraction and HU value of the upper vertebral body were independent factors of postoperative subsidence.
Conclusion
: Insufficient intraoperative distraction and low HU value showed a strong relationship with postoperative intervertebral height reduction following single stand-alone PEEK cage ACDF.
10.The predictors of sustained virological response with sofosbuvir and ribavirin in patients with chronic hepatitis C genotype 2
Sung Yong HAN ; Hyun Young WOO ; Jeong HEO ; Sang Gyu PARK ; Sung Ik PYEON ; Young Joo PARK ; Dong Uk KIM ; Gwang Ha KIM ; Hyung Hoi KIM ; Geun Am SONG ; Mong CHO
The Korean Journal of Internal Medicine 2021;36(3):544-556
Background/Aims:
Real-world, clinical practice data are lacking about sofosbuvir/ ribavirin (SOF/RBV) treatment of Korean patients with hepatitis C virus genotype 2 (HCV GT2) infection. This study investigated the efficacy and safety of SOF/RBV in Korean patients with HCV GT2 infection and clinical factors predicting sustained virological response 12 weeks (SVR12) after the end of SOF/RBV treatment.
Methods:
A total of 181 patients with HCV GT2 with/without cirrhosis were treated with SOF/RBV for 16/12 weeks. Rapid virological response (RVR) was defined as non-detectable HCV RNA at 4 weeks.
Results:
The RVR rate was 80.7% (146/181), the end of treatment response rate was 97.8% (177/181) and the SVR12 rate was 92.8% (168/181). Of eight patients with relapse, four did not achieve RVR. Three patients had a history of hepatocellular carcinoma (HCC). Multivariable analysis showed that RVR (p = 0.015) and no previous history of HCC (p = 0.007) were associated with SVR12. Factors significantly contributing to RVR included cirrhosis, creatinine concentration, and pre-treatment HCV RNA level. SVR12 rate was significantly higher in RVR (+) than RVR (–) patients (95.2% vs. 82.9%, p = 0.011) and also significantly higher in patients without than with a history of HCC (94.1% vs. 72.7%, p = 0.008). During treatment, 80/181 patients (44.2%) experienced mild to moderate adverse events, with 32 (17.7%) requiring RBV dose reductions due to anemia.
Conclusions
SOF/RBV treatment was effective and tolerable in HCV GT2 patients. RVR and no previous history of HCC were positive predictors of SVR12.

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