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.A Case of Intravenous Pyogenic Granuloma Originating in the External Jugular Vein
Sun Woo KIM ; So Yean KIM ; Seung Ho NOH ; Sang Hyuk LEE
Korean Journal of Otolaryngology - Head and Neck Surgery 2019;62(5):307-311
Intravenous pyogenic granuloma (IVPG), also known as intravenous lobular capillary hemangioma, is an extremely rare form of vascular tumor which derives from the lumen of a vein of the head and neck and upper extremities. The treatment of choice is complete local excision of a small portion of the vein. Since first report in 1979, IVPG has been reported in no more than 60 reports abroad. To our knowledge, IVPG originating in the external jugular vein has never been reported in Korea but has important clinical implication. Accurate preoperative diagnosis of neck mass originating in jugular vein is important to plan operative procedures to avoid vascular injury, excessive bleeding, or incomplete excision. Preoperative radiologic examinations such as ultrasonography, computed tomography are useful as first-line diagnostic tools for differential diagnosis of movable neck mass. With a review of literature, the author reports a case of IVPG arising from the left external jugular vein in a 31-year-old male who complained about a palpable neck mass. This patient was successfully managed by ligation and excision of the vein without any complication and no recurrence was found after 6 months.
Adult
;
Diagnosis
;
Diagnosis, Differential
;
Granuloma, Pyogenic
;
Head
;
Hemorrhage
;
Humans
;
Jugular Veins
;
Korea
;
Ligation
;
Male
;
Neck
;
Recurrence
;
Surgical Procedures, Operative
;
Ultrasonography
;
Upper Extremity
;
Vascular System Injuries
;
Veins
8.A novel photonumeric hand grading scale for hand rejuvenation
Jong Hun LEE ; Yean Su CHOI ; Eun Soo PARK ; Jong Seo KIM ; Moon Seok KANG ; Hwa Young OH ; So Dam YANG ; Seon Hui JEON
Archives of Plastic Surgery 2019;46(4):359-364
BACKGROUND: Few scales are currently available to evaluate changes in hand volume. We aimed to develop a hand grading scale for quantitative assessments of dorsal hand volume with additional consideration of changes in skin texture; to validate and prove the precision and reproducibility of the new scale; and to demonstrate the presence of clinically significant differences between grades on the scale. METHODS: Five experienced plastic surgeons developed the Hand Volume Rating Scale (HVRS) and rated 91 images. Another five plastic surgeons validated the scale using 50 randomly selected images. Intra- and inter-rater agreement was calculated using the weighted kappa statistic and intraclass correlation coefficients (ICCs). Paired images were also evaluated to verify whether the scale reflected clinical differences. RESULTS: The intra-rater agreement was 0.95 (95% confidence interval, 0.922–0.974). The interrater ICCs were excellent (first rating, 0.94; second rating, 0.94). Image pairs that differed by 1, 2, and 3 grades were considered to contain clinically relevant differences in 80%, 100%, and 100% of cases, respectively, while 84% of image pairs of the same grade were found not to show clinically relevant differences. This confirmed that the scale of the HVRS corresponded to clinically relevant distinctions. CONCLUSIONS: The scale was proven to be precise, reproducible, and reflective of clinical differences.
Asian Continental Ancestry Group
;
Hand
;
Humans
;
Plastics
;
Rejuvenation
;
Skin
;
Skin Aging
;
Surgeons
;
Weights and Measures
9.Relationship among Oral Hygiene Management, Halitosis, Interpersonal Relationships and Oral Health-Related Quality of Life in Community-Dwelling Elderly
Young Ran CHAE ; So Yean KANG ; Eun Sook NAM ; Hye Jin HYUN ; Su Youn PARK ; Sun Hee LEE ; Ju Young LEE ; Doo Myung KIM
Korean Journal of Health Promotion 2019;19(4):229-236
BACKGROUND: The purpose of this study was to determine the degree of oral care, perceived halitosis, halitosis, interpersonal relationships and oral health-related quality of life and to examine the relationships among these variables.METHODS: The participants were 94 elderly people. The questionnaire included questions on oral care, perceived halitosis, interpersonal relationships, and oral health-related quality of life. Halitosis was measured using odor breath tester.RESULTS: A total of 63.8% of the elderly did not receive regular oral care. The halitosis score was 1.59, thus indicating moderate halitosis. The current perceived halitosis figure was 1.54, participants responded that they feel slight. There was no significant correlation between halitosis and perceived halitosis. Furthermore, there was no significant difference in halitosis and perceived halitosis according to the oral care. Perceived halitosis was negatively correlated with oral health-related quality of life. Interpersonal relationships were correlated with oral health-related quality of life.CONCLUSIONS: It is necessary to actively promote the need for oral care among the elderly. Moreover, older people need regular oral care to prevent halitosis and improve their oral health-related quality of life.
Aged
;
Breath Tests
;
Halitosis
;
Humans
;
Odors
;
Oral Hygiene
;
Quality of Life
10.A Case of Intravenous Pyogenic Granuloma Originating in the External Jugular Vein
Sun Woo KIM ; So Yean KIM ; Seung Ho NOH ; Sang Hyuk LEE
Korean Journal of Otolaryngology - Head and Neck Surgery 2019;62(5):307-311
Intravenous pyogenic granuloma (IVPG), also known as intravenous lobular capillary hemangioma, is an extremely rare form of vascular tumor which derives from the lumen of a vein of the head and neck and upper extremities. The treatment of choice is complete local excision of a small portion of the vein. Since first report in 1979, IVPG has been reported in no more than 60 reports abroad. To our knowledge, IVPG originating in the external jugular vein has never been reported in Korea but has important clinical implication. Accurate preoperative diagnosis of neck mass originating in jugular vein is important to plan operative procedures to avoid vascular injury, excessive bleeding, or incomplete excision. Preoperative radiologic examinations such as ultrasonography, computed tomography are useful as first-line diagnostic tools for differential diagnosis of movable neck mass. With a review of literature, the author reports a case of IVPG arising from the left external jugular vein in a 31-year-old male who complained about a palpable neck mass. This patient was successfully managed by ligation and excision of the vein without any complication and no recurrence was found after 6 months.

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