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.Reliability of OperaVOXTM against Multi-Dimensional Voice Program to Assess Voice Quality before and after Laryngeal Microsurgery in Patient with Vocal Polyp
Sun Woo KIM ; So Yean KIM ; Jae Kyung CHO ; Sung Min JIN ; Sang Hyuk LEE
Journal of the Korean Society of Laryngology Phoniatrics and Logopedics 2020;31(2):71-77
Background and Objectives:
OperaVOXTM (Oxford Wave Research Ltd.) is a portable voice analysis software package designed for use with iOS devices. As a relatively cheap, portable and easily accessible form of acoustic analysis, OperaVOXTM may be more clinically useful than laboratory-based software in many situations. The aim of this study was to evaluate the agreement between OperaVOXTM and Multi-Dimensional Voice Program (MDVP; Computerized Speech Lab) to assess voice quality before and after laryngeal microsurgery in patient with vocal polyp.Materials and Method Twenty patients who had undergone laryngeal microsurgery for vocal polyp were enrolled in this study. Preoperative and postoperative voices were assessed by acoustic analysis using MDVP and OperaVOXTM. A five-seconds recording of vowel /a/ was used to measure fundamental frequency (F0), jitter, shimmer and noise-to-harmonic ratio (NHR).
Results:
Several acoustic parameters of MDVP and OperaVOXTM related to short-term variability showed significant improvement. While pre-operative value of F0, jitter, shimmer, NHR was 155.75 Hz (male: 125.37 Hz, female: 183.37 Hz), 2.20%, 6.28%, 0.16, post-operative values of these parameter was 164.34 Hz (male: 129.42 Hz, female: 199.26 Hz), 2.15%, 5.18%, 0.14 Hz in MDVP. While pre-operative value of F0, jitter, shimmer, NHR was 168.26 Hz (male: 135.16 Hz, female: 201.37 Hz), 2.27%, 6.95%, 0.26, post-operative values of these parameters was 162.72 Hz (male: 128.267 Hz, female: 197.18 Hz), 1.71%, 5.36%, 0.20 in OperaVOXTM. There was high intersoftware agreement for F0, jitter, shimmer with intraclass correlation coefficient.
Conclusion
Our results showed that the short-term variability of acoustic parameters in both MDVP and OperaVOXTM were useful for the objective assessment of voice quality in patients who received laryngeal microsurgery. OperaVOXTM is comparable to MDVP and has high intersoftware reliability with MDVP in measuring the F0, jitter, and shimmer.
5.Reliability of OperaVOXTM against Multi-Dimensional Voice Program to Assess Voice Quality before and after Laryngeal Microsurgery in Patient with Vocal Polyp
Sun Woo KIM ; So Yean KIM ; Jae Kyung CHO ; Sung Min JIN ; Sang Hyuk LEE
Journal of the Korean Society of Laryngology Phoniatrics and Logopedics 2020;31(2):71-77
Background and Objectives:
OperaVOXTM (Oxford Wave Research Ltd.) is a portable voice analysis software package designed for use with iOS devices. As a relatively cheap, portable and easily accessible form of acoustic analysis, OperaVOXTM may be more clinically useful than laboratory-based software in many situations. The aim of this study was to evaluate the agreement between OperaVOXTM and Multi-Dimensional Voice Program (MDVP; Computerized Speech Lab) to assess voice quality before and after laryngeal microsurgery in patient with vocal polyp.Materials and Method Twenty patients who had undergone laryngeal microsurgery for vocal polyp were enrolled in this study. Preoperative and postoperative voices were assessed by acoustic analysis using MDVP and OperaVOXTM. A five-seconds recording of vowel /a/ was used to measure fundamental frequency (F0), jitter, shimmer and noise-to-harmonic ratio (NHR).
Results:
Several acoustic parameters of MDVP and OperaVOXTM related to short-term variability showed significant improvement. While pre-operative value of F0, jitter, shimmer, NHR was 155.75 Hz (male: 125.37 Hz, female: 183.37 Hz), 2.20%, 6.28%, 0.16, post-operative values of these parameter was 164.34 Hz (male: 129.42 Hz, female: 199.26 Hz), 2.15%, 5.18%, 0.14 Hz in MDVP. While pre-operative value of F0, jitter, shimmer, NHR was 168.26 Hz (male: 135.16 Hz, female: 201.37 Hz), 2.27%, 6.95%, 0.26, post-operative values of these parameters was 162.72 Hz (male: 128.267 Hz, female: 197.18 Hz), 1.71%, 5.36%, 0.20 in OperaVOXTM. There was high intersoftware agreement for F0, jitter, shimmer with intraclass correlation coefficient.
Conclusion
Our results showed that the short-term variability of acoustic parameters in both MDVP and OperaVOXTM were useful for the objective assessment of voice quality in patients who received laryngeal microsurgery. OperaVOXTM is comparable to MDVP and has high intersoftware reliability with MDVP in measuring the F0, jitter, and shimmer.
6.Clinical Usefulness of Trasseptal Transsphenoidal Approach for Pituitary Tumors with Septal Cartilage Removal and Replacement via Modified Killian Incision: Review of 42 Cases
So Yean KIM ; Byoung Wook YANG ; Yong Woo LEE ; Kyung Chul LEE
Journal of Rhinology 2019;26(1):26-31
BACKGROUND AND OBJECTIVES: The conventional transseptal transsphenoidal approach can inhibit visualization of the surgical field and may change the shape of external nose. We used the transseptal transsphenoidal technique to remove septal cartilage except the L strut via a modified Killian's incision and preserved the ‘key-stone area.’ The aim of this study was to verify the usefulness of this technique. SUBJECTS AND METHOD: Retrospective analysis was carried out on 42 pituitary tumor patients who received this technique by a single otolaryngologist from March 2005 to March 2012 at Kangbuk Samsung Hospital. RESULTS: The mean patient age at time of surgery was 52 years, and 41 cases were pituitary adenoma and 1 was Rathke's cleft cyst. Three patients had undergone prior surgery; of which 2 used a pterional approach and 1 a transsphenoidal approach. With regard to complication, there were 2 cases of CSF leakage and 5 cases of septal laceration. There were no cases of meningitis, deformity of external nose, septal perforation, anosmia, or sinusitis. In post operation follow up, 25 cases (59.5%) had no residual tumor, while 17 cases (40.5%) had residual tumor. CONCLUSION: This study reveals that transseptal transsphenoidal surgery with septal cartilage removal and a replacement technique for a pituitary tumor are effective, allow easy exposure, and result in a low complication rate.
Cartilage
;
Congenital Abnormalities
;
Follow-Up Studies
;
Humans
;
Lacerations
;
Meningitis
;
Methods
;
Neoplasm, Residual
;
Nose
;
Olfaction Disorders
;
Pituitary Neoplasms
;
Retrospective Studies
;
Sinusitis
7.Delphi study to achieve consensus for the development strategies of emergency medical services system preparing for reunification of Korea.
Gwan Jin PARK ; Kyung Won LEE ; So Yean KONG ; Ki Ok AHN ; Dae Han WI ; Young Sun RO ; Sang Do SHIN
Journal of the Korean Society of Emergency Medicine 2018;29(2):136-143
OBJECTIVE: This study aimed to achieve expert consensus for the development of strategies emergency medical services system (EMSS) after reunification of Korean using the Delphi method. METHODS: The Delphi study was performed through several rounds from January to February in 2017. Experts who have experiences of emergency medical support in North Korea and developing countries participated in the study. Respondents were asked to express their level of agreement following 7 categories: (1) emergency medical manpower, (2) communication system, (3) emergency facilities, (4) patient transfer system, (5) consumer participation and public education, (6) insurance system, (7) disaster planning. Score 1–3 was classified as disagreement, 4–6 as medium agreement, and 7–9 as agreement and consensus was considered being achieved when more than two thirds of respondents agreed in each question. RESULTS: Response rate were 80% in the first round and 75% in the second round. Consensus was achieved in emergency medical manpower, communication system, emergency facilities, patient transfer system, and disaster planning for the important factors immediately after reunification within 5 years. Consensus was achieved in emergency medical manpower, communication system, emergency facilities, patient transfer system, consumer participation and public education, and disaster planning for the prior factors when the reunification would happen rapidly without enough preparation. CONCLUSION: Consensus was achieved in emergency medical manpower, communication system, emergency facilities, patient transfer system, disaster planning for the essential EMSS elements. The consensus was expected to utilize as a basic data for the development of EMSS preparing for reunification.
Consensus*
;
Consumer Participation
;
Delphi Technique*
;
Democratic People's Republic of Korea
;
Developing Countries
;
Disaster Planning
;
Education
;
Emergencies*
;
Emergency Medical Services*
;
Expert Testimony
;
Insurance
;
Korea*
;
Methods
;
Patient Transfer
;
Public Health
;
Surveys and Questionnaires
8.Novel glutathione-containing dry-yeast extracts inhibit eosinophilia and mucus overproduction in a murine model of asthma.
Yun Ho KIM ; Yean Jung CHOI ; Eun Jung LEE ; Min Kyung KANG ; Sin Hye PARK ; Dong Yeon KIM ; Hyeongjoo OH ; Sang Jae PARK ; Young Hee KANG
Nutrition Research and Practice 2017;11(6):461-469
BACKGROUND/OBSECTIVE: Airway inflammation by eosinophils, neutrophils and alveolar macrophages is a characteristic feature of asthma that leads to pathological subepithelial thickening and remodeling. Our previous study showed that oxidative stress in airways resulted in eosinophilia and epithelial apoptosis. The current study investigated whether glutathione-containing dry yeast extract (dry-YE) ameliorated eosinophilia, goblet cell hyperplasia and mucus overproduction. MATERIALS/METHOD: This study employed 2 µg/mL lipopolysaccharide (LPS)- or 20 ng/mL eotaxin-1-exposed human bronchial epithelial cells and ovalbumin (OVA)-challenged mice. Dry-YE employed in this study contained a significant amount of glutathione (140 mg in 100 g dry yeast). RESULTS: Human bronchial epithelial cell eotaxin-1 and mucin 5AC (MUC5AC) were markedly induced by the endotoxin LPS, which was dose-dependently attenuated by nontoxic dry-YE at 10-50 µg/mL. Moreover, dry-YE inhibited the MUC5AC induction enhanced by eotaxin-1, indicating that eotaxin-1-mediated eosinophilia may prompt the MUC5AC induction. Oral supplementation with 10-100 mg/kg dry-YE inhibited inflammatory cell accumulation in airway subepithelial regions with a reduction of lung tissue level of intracellular adhesion molecule-1. In addition, ≥ 50 mg/kg dry-YE diminished the lung tissue levels of eotaxin-1, eosinophil major basic protein and MUC5AC in OVA-exposed mice. Alcian blue/periodic acid schiff staining revealed that the dry-YE supplementation inhibited goblet cell hyperplasia and mucus overproduction in the trachea and bronchiolar airways of OVA-challenged mice. CONCLUSIONS: Oxidative stress may be involved in the induction of eotaxin-1 and MUC5AC by endotoxin episode and OVA challenge. Dry-YE effectively ameliorated oxidative stress-responsive epithelial eosinophilia and mucus-secreting goblet cell hyperplasia in cellular and murine models of asthma.
Animals
;
Apoptosis
;
Asthma*
;
Chemokine CCL11
;
Eosinophil Major Basic Protein
;
Eosinophilia*
;
Eosinophils
;
Epithelial Cells
;
Glutathione
;
Goblet Cells
;
Humans
;
Hyperplasia
;
Inflammation
;
Lung
;
Macrophages, Alveolar
;
Mice
;
Mucin 5AC
;
Mucins
;
Mucus*
;
Neutrophils
;
Ovalbumin
;
Ovum
;
Oxidative Stress
;
Trachea
;
Yeasts
9.Differentiation of Adductor-Type Spasmodic Dysphonia from Muscle Tension Dysphonia Using Spectrogram.
Seung Ho NOH ; So Yean KIM ; Jae Kyung CHO ; Sang Hyuk LEE ; Sung Min JIN
Journal of the Korean Society of Laryngology Phoniatrics and Logopedics 2017;28(2):100-105
BACKGROUND AND OBJECTIVES: Adductor type spasmodic dysphonia (ADSD) is neurogenic disorder and focal laryngeal dystonia, while muscle tension dysphonia (MTD) is caused by functional voice disorder. Both ADSD and MTD may be associated with excessive supraglottic contraction and compensation, resulting in a strained voice quality with spastic voice breaks. The aim of this study was to determine the utility of spectrogram analysis in the differentiation of ADSD from MTD. MATERIALS AND METHODS: From 2015 through 2017, 17 patients of ADSD and 20 of MTD, underwent acoustic recording and phonatory function studies, were enrolled. Jitter (frequency perturbation), Shimmer (amplitude perturbation) were obtained using MDVP (Multi-dimensional Voice Program) and GRBAS scale was used for perceptual evaluation. The two speech therapist evaluated a wide band (11,250 Hz) spectrogram by blind test using 4 scales (0–3 point) for four spectral findings, abrupt voice breaks, irregular wide spaced vertical striations, well defined formants and high frequency spectral noise. RESULTS: Jitter, Shimmer and GRBAS were not found different between two groups with no significant correlation (p>0.05). Abrupt voice breaks and irregular wide spaced vertical striations of ADSD were significantly higher than those of MTD with strong correlation (p < 0.01). High frequency spectral noise of MTD were higher than those of ADSD with strong correlation (p < 0.01). Well defined formants were not found different between two groups. CONCLUSION: The wide band spectrograms provided visual perceptual information can differentiate ADSD from MTD. Spectrogram analysis is a useful diagnostic tool for differentiating ADSD from MTD where perceptual analysis and clinical evaluation alone are insufficient.
Acoustics
;
Compensation and Redress
;
Diagnosis, Differential
;
Dysphonia*
;
Dystonia
;
Humans
;
Muscle Spasticity
;
Muscle Tonus*
;
Noise
;
Voice
;
Voice Disorders
;
Voice Quality
;
Weights and Measures
10.Association between Nutrition Label Reading and Nutrient Intake in Korean Adults: Korea National Health and Nutritional Examination Survey, 2007-2009 (KNHANES IV).
Min Gyou KIM ; Seung Won OH ; Na Rae HAN ; Dong Ju SONG ; Jae Yean UM ; Su Hyun BAE ; Hyuktae KWON ; Cheol Min LEE ; Hee Kyung JOH ; Sung Woo HONG
Korean Journal of Family Medicine 2014;35(4):190-198
BACKGROUND: Nutrition labels provide various information on the nutrient contents of food. However, despite the recent increase in the interest in dietary intake and expansion of related policies, studies on the association between nutrition label reading and dietary intake are lacking in Korea. METHODS: This study analyzed the 2007-2009 KNHANES (Korean National Health and Nutrition Examination Survey) data. To examine macronutrients and micronutrients intake according to nutrition label reading, analysis of covariance was used. Multiple logistic regression analysis was also used to examine the association between adherence to dietary reference intake and nutrition label reading. RESULTS: Nutrition label reading was significantly high among women, youth, and those with high education and high household income. Nutrition label reading was associated with higher intake of calcium and vitamin C in men and the lower intake of calorie, carbohydrates and higher energy ratio of protein in women. Additionally, male nutrition label readers were associated with adherence to dietary reference intake of fiber (odds ratio [OR], 2.00; 95% confidence interval [CI], 1.23 to 3.26) and calcium (OR, 1.26; 95% CI, 1.03 to 1.54). In women, there were no significant differences in the adherence to the dietary reference intake in fat, fiber, sodium, potassium, and calcium according to the nutrition label reading. CONCLUSION: In men, nutrition label reading was associated with healthier intake of several micronutrients, although this was not observed in women. Consideration for clearly reporting vulnerable micronutrients in nutrition labels is necessary.
Adolescent
;
Adult*
;
Ascorbic Acid
;
Calcium
;
Carbohydrates
;
Education
;
Family Characteristics
;
Female
;
Food Habits
;
Food Labeling
;
Humans
;
Korea
;
Logistic Models
;
Male
;
Micronutrients
;
Potassium
;
Recommended Dietary Allowances
;
Sodium

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