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.A Case of de novo MPO-associated Central Nervous System Vasculitis Following Heterogeneous mRNA1273 COVID-19 Booster Vaccination
Young Seok JEONG ; Sung Jo BANG ; Geun Yeong KIM ; Jae Ho JEON ; Gi Ryeong OH ; Chong Hyuk CHUNG ; Hyungjong PARK
Journal of the Korean Neurological Association 2023;41(2):145-148
The coronavirus disease-19 (COVID-19) pandemic leaded to inevitable expeditious vaccine rollout without sufficient safety profile. Especially, severe acute respiratory syndrome coronavirus 2 infection has known to induce overreacted immune responses such as releasing of proteinase-3 and myeloperoxidase (MPO) by neutrophil. This overreacted immune response leads to the concern of the development of autoimmune diseases after COVID-19 vaccination. We report the case of de novo MPO-associated systemic vasculitis involving central nervous system following heterogeneous mRNA1273 COVID-19 booster vaccination.
5.Guideline for the Surgical Management of Locally Invasive Differentiated Thyroid Cancer From the Korean Society of Head and Neck Surgery
Jun-Ook PARK ; Joo Hyun KIM ; Young Hoon JOO ; Sang-Yeon KIM ; Geun-Jeon KIM ; Hyun Bum KIM ; Dong-Hyun LEE ; Hyun Jun HONG ; Young Min PARK ; Eun-Jae CHUNG ; Yong Bae JI ; Kyoung Ho OH ; Hyoung Shin LEE ; Dong Kun LEE ; Ki Nam PARK ; Myung Jin BAN ; Bo Hae KIM ; Do Hun KIM ; Jae-Keun CHO ; Dong Bin AHN ; Min-Su KIM ; Jun Girl SEOK ; Jeon Yeob JANG ; Hyo Geun CHOI ; Hee Jin KIM ; Sung Joon PARK ; Eun Kyung JUNG ; Yeon Soo KIM ; Yong Tae HONG ; Young Chan LEE ; Ho-Ryun WON ; Sung-Chan SHIN ; Seung-Kuk BAEK ; Soon Young KWON
Clinical and Experimental Otorhinolaryngology 2023;16(1):1-19
The aim of this study was to develop evidence-based recommendations for determining the surgical extent in patients with locally invasive differentiated thyroid cancer (DTC). Locally invasive DTC with gross extrathyroidal extension invading surrounding anatomical structures may lead to several functional deficits and poor oncological outcomes. At present, the optimal extent of surgery in locally invasive DTC remains a matter of debate, and there are no adequate guidelines. On October 8, 2021, four experts searched the PubMed, Embase, and Cochrane Library databases; the identified papers were reviewed by 39 experts in thyroid and head and neck surgery. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach was used to assess the quality of evidence, and to develop and report recommendations. The strength of a recommendation reflects the confidence of a guideline panel that the desirable effects of an intervention outweigh any undesirable effects, across all patients for whom the recommendation is applicable. After completing the draft guidelines, Delphi questionnaires were completed by members of the Korean Society of Head and Neck Surgery. Twenty-seven evidence-based recommendations were made for several factors, including the preoperative workup; surgical extent of thyroidectomy; surgery for cancer invading the strap muscles, recurrent laryngeal nerve, laryngeal framework, trachea, or esophagus; and surgery for patients with central and lateral cervical lymph node involvement. Evidence-based guidelines were devised to help clinicians make safer and more efficient clinical decisions for the optimal surgical treatment of patients with locally invasive DTC.
6.Difference Between the Preferred Gain and the NAL-NL2 Gain in Korean Hearing Aid Users
Jong-Geun LEE ; Jae-Min JEON ; Jae-Jun SONG ; Sung-Won CHAE
Korean Journal of Otolaryngology - Head and Neck Surgery 2022;65(7):381-385
Background and Objectives:
The purpose of this study was to compare the preferred gain and the National Acoustic Laboratories Nonlinear 2nd edition (NAL-NL2) gain value in Korean language hearing aid users.Subjects and Method In this retrospective study, preferred gain and NAL-NL2 gain data were obtained from 199 monaural hearing aids users who were satisfied with their hearing aid devices. The gain value data were collected from three different sound levels at various frequencies. Several factors were also evaluated to determine a potential impact on the preferred gain.
Results:
The preferred gain was significantly higher than the NAL-NL2 target gain (p=0.01). This difference was highest with the gain measured with a medium-level sound (65 dB) with 1 kHz tone. There was a tendency of reduced preferred gain with the increased age of the participant (p=0.049).
Conclusion
The results indicate that Korean hearing aid users require more gain than the NAL-NL2 target gain. Linguistic characteristics, age, degree of hearing loss, and many other factors may be implicated in this result.
7.Sleep Disorder in Tinnitus Patients
Jae-Min JEON ; Seok-Youl CHOI ; Jong-Geun LEE ; Jee Won MOON ; Sung-Won CHAE ; Jae-Jun SONG
Korean Journal of Otolaryngology - Head and Neck Surgery 2021;64(11):792-799
Background and Objectives:
One of the most common complaint of tinnitus patients has been sleep disorder. The aim of this study was to evaluate the relationship between sleep disorder and tinnitus.Subjects and Method Patients with tinnitus from July 2018 till August 2019 were enrolled. Subjects who had any acute/chronic disease in the inner and middle ear or external auditory canal, sleep apnea and had more than 3 caffeinated beverages a day was excluded. Study participants completed Beck Depression Inventory (BDI), the tinnitus symptom questionnaire, tinnitus handicap inventory (THI), Pittsburg Sleep Quality Inventory (PSQI), pure tone audiometry, a full otologic examination and an interview on past medical history.
Results:
THI was correlated with PSQI global score and BDI. The PSQI subscale most relevant to THI was PSQI 1 (subjective sleep quality). Hearing impairment was correlated with the THI functional subscale. BDI was individually related to PSQI.
Conclusion
Tinnitus is found to be highly related to sleep disorder, suggesting a common pathway of aggravation and treatment target. Tinnitus is also more affected by sleep disorder than by depression. A further examination and treatment of comorbid sleep disorder in tinnitus patients is recommended.
8.Comparison of Functional Outcomes after PoweredIntracapsular Tonsillectomy with Adenoidectomy andConventional Extracapsular Tonsillectomy withAdenoidectomy for Pediatric Obstructive Sleep Apnea
Jae-Min JEON ; Jeong-Rok KIM ; Seung-Hwan BANG ; Jong-Geun LEE ; Jae-Min SHIN ; Il-Ho PARK ; Jeong-Soo WOO ; Sung-Won CHAE ; Jae-Jun SONG
Korean Journal of Otolaryngology - Head and Neck Surgery 2020;63(4):167-171
Background and Objectives:
This study was investigated to compare the clinical outcomes and complications of powered intracapsular tonsillectomy and adenoidectomy (PITA) with those of conventional extracapsular tonsillectomy and adenoidectomy (ECTA) in treatment of pediatric obstructive sleep apnea (OSA).Subjects and Method Eighty-one children with adenotonsillar hyperplasia underwent tonsillectomy and adenoidectomy (46 PITA and 35 ECTA) from December 2016 to July 2017 for OSA. The choice of surgical procedure (PITA vs. ECTA) was determined by the number of episodes of acute tonsillitis. The quality of life measurement was performed using Korean Obstructive Sleep Apnea Survey (KOSA-18) score. Postoperative bleeding was assessed as number of revisit or readmission. Postoperative pain was evaluated by visual analog scale (VAS) at postoperative day 1, 3, and 7.
Results:
PITA and ECTA significantly reduced KOSA-18 scores postoperatively (p<0.01, p<0.01, respectively) and were equally effective in pediatric OSA treatment. Postoperative bleeding was lower in the PITA group, but there was no statistical difference due to small number of cases. VAS score for postoperative pain was significantly lower in the PITA group at day 1, 3, and 7 (p=0.03, p<0.01, and p<0.01, respectively).
Conclusion
PITA is effective in pediatric OSA treatment with less morbidity, and less complications.
9.Impact of the Preoperative Neutrophil to Lymphocyte Ratio on Patients with Head and Neck Cancer
Geun-Jeon KIM ; Jun-Myung KANG ; Jae-Hyun SEO ; Se-Hwan HWANG ; Ho-Young YOUN ; Ho-Jun JIN ; Ha-Ram KANG ; Hyun-Ho LEE ; Young-Hoon JOO
Korean Journal of Otolaryngology - Head and Neck Surgery 2020;63(1):26-30
Background and Objectives:
To investigate the prognostic value of the neutrophil to lymphocyte ratio (NLR) in patients with head and neck squamous cell cancer (HNSCC).Subjects and Method Clinical data from 259 patients with HNSCC were collected retrospectively. NLR was adopted as potential prognostic biomarkers.
Results:
NLR was associated with cancer recurrence (p=0.002 and p<0.001, respectively). Patients with a NLR >2.15 had significantly decreased 5-year disease specific survival (DSS) based on the Kaplan-Meier survival curves (p<0.001 and p=0.029, respectively). The Multivariate Cox regression analysis confirmed a significant association between 5-year DSS and the NLR (using 2.15 as the cut-off; hazard ratio, 1.852; 95% confidence interval, 1.237-2.771; p= 0.003).
Conclusion
A NLR cut-off value ≥2.15 was associated with adverse outcomes in patients with HNSCC.
10.Study on Assessment and Treatment Patterns of Speech-Language Pathologists in Pediatric Vocal Problem Through Multicenter Survey
Jong Geun LEE ; Seung Hwan BANG ; Jae Min JEON ; Jung Kyu LEE ; Angela Yun KIM ; Jeong Soo WOO ; Jae Gu CHO
Journal of the Korean Society of Laryngology Phoniatrics and Logopedics 2019;30(1):39-47
BACKGROUND AND OBJECTIVES: Pediatric vocal health problems are relatively common. However, it is not yet well studied whether uniform diagnosis and treatment is done properly in South Korea. The purpose of this study was to investigate the methods that the Korean speech therapists use to diagnose and treat pediatric voice problem. MATERIALS AND METHOD: An anonymous online questionnaire was administered to 32 speech language therapists registered at the Korean laryngeal speech linguistics society detailing demographics, employment institution, general management of pediatric patients with vocal problem including assessment and treatment procedures. RESULTS: Current practice patterns were analyzed on 32 speech language therapists providing services in South Korea mostly working at tertiary university hospital. One third of pediatric patients were assessed without proceeding to treatment. One fifth of patients were treated without assessment. Perceptual assessment was the main pre-treatment assessment methods used. Treatment was done in the following order : Voice rest, SOVT, yawn-sigh and resonant voice. Post-treatment evaluation was used in the following order : Instrumental assessment, clinical judgment, and recording comparison. CONCLUSION: Speech language therapists practice in South Korea mostly follows the ASHA practice guidelines. However, there are still great amount of cases in which only the evaluation was done without appropriate treatment. Further research is needed to make SPLs more systematic and efficient for evaluating and treating pediatric vocal patients.
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