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.Impact of Crohn’s Disease on the Survival of Patients with Small-Bowel Adenocarcinoma in Korea: A Bicenter Cohort Study
Kyuwon KIM ; Kookhwan CHOI ; Sung Wook HWANG ; Jong Pil IM ; Byong Duk YE ; Joo Sung KIM ; Kyu Joo PARK ; Suk-Kyun YANG ; Seong-Joon KOH ; Sang Hyoung PARK ;
Gut and Liver 2023;17(4):581-590
Background/Aims:
Owing to the low prevalence of small-bowel adenocarcinoma (SBA), data on the impact of Crohn’s disease (CD) on the survival of patients with SBA are lacking. Therefore, we investigated this issue in this study.
Methods:
In this bicenter cohort study, patients with histologically confirmed SBA were retrospectively enrolled and classified into two groups: sporadic SBA and CD-associated SBA. Patients with duodenal SBA were excluded. Overall survival, disease-free survival, and factors associated with survival were analyzed.
Results:
Of 128 patients with SBA, 115 had sporadic SBA and 13 had CD-associated SBA. Ileal involvement and poorly differentiated tumors were more common in the CD-associated SBA group than in the sporadic SBA group (ileal involvement, 53.8% vs 22.6%; poor differentiation, 46.2% vs 14.8%; both p<0.05). In survival analysis, overall survival showed no statistical difference between the sporadic SBA and CD-associated SBA groups (p=0.370). However, when stratified by stage, the adjusted overall survival of the CD-associated SBA group was lower in patients with an advanced disease stage (p=0.029). Disease-free survival showed the same tendency, albeit without clinical significance (p=0.097). CD (hazard ratio [HR], 2.308; p=0.047), older age (≥65 yr) at SBA diagnosis (HR, 2.766; p=0.001), and stage III/IV disease (HR, 3.151; p<0.001) were factors associated with mortality.
Conclusions
The overall survival of patients with CD-associated SBA did not differ from that of patients with sporadic SBA. However, as CD is an independent risk factor for mortality, vigilant surveillance in high-risk patients may be crucial.
5.Protective Effect of Locally Injected Polydeoxyribonucleotide in Ischemic Murine Random Skin Flaps
Jiye KIM ; Jaemoon YANG ; Minhee KU ; Jinhyuck IM ; Ji Yong LEE ; Yoon Woo KOH ; Eun Chang CHOI ; Nam Suk SIM ; Ji-Hoon KIM
Korean Journal of Otolaryngology - Head and Neck Surgery 2023;66(2):106-112
Background and Objectives:
This study aimed to investigate the protective effect of polydeoxyribonucleotide (PDRN) against skin flap necrosis in a murine skin flap model.Materials and Method Twenty mice with rectangular skin flaps on the dorsum were randomly divided into the PDRN (n=10) and pentobarbital sodium (PBS) (n=10) injection groups. PDRN (8 mg/kg) was subdermally injected at 12 different points immediately after the operation. After 7 days, the flap perfusions were evaluated using a laser speckle contrast imaging (LSCI) system, and specimens were collected for immunohistochemistry analysis.
Results:
The percentage of survival area relative to the total flap area was significantly higher in the PDRN group (60.87%±7.63%) than in the PBS group (45.23%±10.72%) (p<0.05). The mean LSCI perfusion signal of the distal part of the skin flap in the PBS group was 0.57±0.12, and that in the PDRN group was 0.74±0.13 (p<0.05). The PDRN group had a significantly lower interleukin 1 beta expression than the PBS group and higher vascular endothelial growth factor α expression than the PBS group (p<0.05).
Conclusion
These findings suggest that subdermally injected PDRN is more effective in enhancing flap survival during necrosis.
6.Numerical Considerations of the Neurologist in Korea for Appropriate Management of Dementia
Ko Woon KIM ; Sang Wuk JEONG ; Suk Won AHN ; Im Seok KOH ; Hojin CHOI
Journal of the Korean Neurological Association 2018;36(3):165-170
As the number of dementia patients increases due to rapid aging, the burden of dementia becomes a big social problem. In response to this, various policies have been introduced in Korea. In particular, as the new policy of national responsibility for dementia care has been implemented in 2017, detailed plans for improving health care and long-term care support for dementia patients and their caregivers have been introduced. The most important thing in carrying out the comprehensive government plan will be securing sufficient the professional health and social care workforce. However, the number of neurologists to play an important role in the management of dementia will be more and more insufficient. Therefore, the need to supply an adequate number of neurologists in Korea should be discussed.
Aging
;
Caregivers
;
Delivery of Health Care
;
Dementia
;
Humans
;
Korea
;
Long-Term Care
;
Social Problems
7.Present and Future of Neurologist: Do We Have Enough Neurologists?
Sang Wuk JEONG ; Kyeong Joon KIM ; Hye Seon JEONG ; Soo Kyoung KIM ; Joon Tae KIM ; Jung Suk KIM ; Im Seok KOH
Journal of the Korean Neurological Association 2018;36(3):159-164
Korea is one of the fastest aging country in the world. As the old population increases, incidence of stroke would rapidly increase. We estimated future of the neurologist supply in Korea, and assessed whether the present neurologist supply is appropriate to cope with future increase of stroke. We reviewed the resource database of neurologists affiliated to Korean Neurological Association. Age, sex, location of workplace, and work positions were identified. The stroke incidence was calculated from age group specific incidence data and projected age group number. Age group specific incidence data was adapted from the 2006 report of the Construction of National Surveillance System for Cardiovascular and Cerebrovascular Disease. Total 1,828 neurologists in practice were identified. Six hundred and fifty-five (30%) worked in training hospitals. 457 (21%) in other general hospitals, 305 (14%) in private clinics, and 148 (7%) worked in nursing hospitals. Assuming that the neurologists are trained 82 people per year as in the present, 2,073 neurologists would be present in 2020, 2,659 in 2030. However, stroke incidence would show more rapid increment, and is expected about 170,000 per year in 2020 and 300,000 per year in 2030. Therefore, there will be a shortage of neurologists needed for stroke care in the future. Because of rapid increase in the elderly population, current supply of neurologists may not meet the expected need for stroke care. Therefore, national health system needs more neurologists to cope with that situation.
Aged
;
Aging
;
Cerebrovascular Disorders
;
Delivery of Health Care
;
Hospitals, General
;
Humans
;
Incidence
;
Korea
;
Nursing
;
Stroke
8.Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016.
Deog Young KIM ; Yun Hee KIM ; Jongmin LEE ; Won Hyuk CHANG ; Min Wook KIM ; Sung Bom PYUN ; Woo Kyoung YOO ; Suk Hoon OHN ; Ki Deok PARK ; Byung Mo OH ; Seong Hoon LIM ; Kang Jae JUNG ; Byung Ju RYU ; Sun IM ; Sung Ju JEE ; Han Gil SEO ; Ueon Woo RAH ; Joo Hyun PARK ; Min Kyun SOHN ; Min Ho CHUN ; Hee Suk SHIN ; Seong Jae LEE ; Yang Soo LEE ; Si Woon PARK ; Yoon Ghil PARK ; Nam Jong PAIK ; Sam Gyu LEE ; Ju Kang LEE ; Seong Eun KOH ; Don Kyu KIM ; Geun Young PARK ; Yong Il SHIN ; Myoung Hwan KO ; Yong Wook KIM ; Seung Don YOO ; Eun Joo KIM ; Min Kyun OH ; Jae Hyeok CHANG ; Se Hee JUNG ; Tae Woo KIM ; Won Seok KIM ; Dae Hyun KIM ; Tai Hwan PARK ; Kwan Sung LEE ; Byong Yong HWANG ; Young Jin SONG
Brain & Neurorehabilitation 2017;10(Suppl 1):e11-
“Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” is the 3rd edition of clinical practice guideline (CPG) for stroke rehabilitation in Korea, which updates the 2nd edition published in 2014. Forty-two specialists in stroke rehabilitation from 21 universities and 4 rehabilitation hospitals and 4 consultants participated in this update. The purpose of this CPG is to provide optimum practical guidelines for stroke rehabilitation teams to make a decision when they manage stroke patients and ultimately, to help stroke patients obtain maximal functional recovery and return to the society. The recent two CPGs from Canada (2015) and USA (2016) and articles that were published following the 2nd edition were used to develop this 3rd edition of CPG for stroke rehabilitation in Korea. The chosen articles' level of evidence and grade of recommendation were decided by the criteria of Scotland (2010) and the formal consensus was derived by the nominal group technique. The levels of evidence range from 1++ to 4 and the grades of recommendation range from A to D. Good Practice Point was recommended as best practice based on the clinical experience of the guideline developmental group. The draft of the developed CPG was reviewed by the experts group in the public hearings and then revised. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” consists of ‘Chapter 1; Introduction of Stroke Rehabilitation’, ‘Chapter 2; Rehabilitation for Stroke Syndrome, ‘Chapter 3; Rehabilitation for Returning to the Society’, and ‘Chapter 4; Advanced Technique for Stroke Rehabilitation’. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” will provide direction and standardization for acute, subacute and chronic stroke rehabilitation in Korea.
Canada
;
Consensus
;
Consultants
;
Humans
;
Korea*
;
Practice Guidelines as Topic
;
Rehabilitation*
;
Scotland
;
Specialization
;
Stroke*
9.Pathologic Finding of Thymic Carcinoma Accompanied by Myasthenia Gravis.
Se Hoon KIM ; Im Suk KOH ; Yang Ki MINN
Journal of Clinical Neurology 2015;11(4):372-375
BACKGROUND AND PURPOSE: The World Health Organization (WHO) has classified thymic carcinoma and other thymomas (types A, AB, and B) as different neoplasms. Myasthenia gravis (MG) is an early sign of thymoma and theoretically does not accompany thymic carcinoma; however, cases of thymic carcinoma with MG have been reported. Whether thymic carcinoma can accompany MG has yet to be established. METHODS: The medical records of patients who underwent thymectomy for MG between 1990 and 2011 in a single hospital were reviewed. All cases with the diagnostic code of "thymic carcinoma" or "thymoma type C" (old terminology) were selected. A pathologist re-reviewed the pathologic specimens using the new WHO criteria. The rate of thymic carcinoma among these MG patients was then calculated. RESULTS: A total of 81 patients with MG had thymic tumors, 10 of whom had thymic carcinomas or thymoma type C. Seven cases of well-differentiated thymic carcinomas (type B3) were excluded, leaving three (3.7%) cases of thymic carcinoma with MG. All three of these cases were type B3 thymoma with a focal squamous cell carcinoma component that was very small and well demarcated. In addition, two out of the three tumors were found to be at an early clinical stage. All of the cases survived without recurrence over follow-up periods of at least 5 years. CONCLUSIONS: Thymic carcinoma transformation from thymoma can occur during the early stages of thymoma. The association of this condition with MG is not as rare as was previously thought. Thymic carcinomas accompanying MG had a predominant B3 thymoma component with a focal thymic carcinoma area (squamous cell carcinoma).
Carcinoma, Squamous Cell
;
Follow-Up Studies
;
Humans
;
Medical Records
;
Myasthenia Gravis*
;
Recurrence
;
Thymectomy
;
Thymoma*
;
Thymus Neoplasms
;
World Health Organization
10.A Case of Cerebellar Infarction Caused by Acute Subclavian Thrombus Following Minor Trauma.
Hyeyoung PARK ; Hee Jin KIM ; Myoung Jin CHA ; Jong Yun LEE ; Im Seok KOH ; Hyo Suk NAM
Yonsei Medical Journal 2013;54(6):1538-1541
Subclavian steal syndrome caused by an acute thrombus is very rare. We present a case of cerebellar infarction with proximal subclavian artery thrombosis. A 56-year-old woman was admitted for sudden vertigo. One day prior to admission, she received a shoulder massage comprised of chiropractic manipulation. On examination, her left hand was pale and radial pulses were absent. Blood pressure was weak in the left arm. Downbeat nystagmus and a right falling tendency were observed. Brain MRI showed multiple acute infarctions in the left cerebellum. The findings of Doppler ultrasonography in the left vertebral artery were compatible with a partial subclavian artery steal phenomenon. Digital subtraction angiography demonstrated a large thrombus in the left subclavian artery. After heparin infusion, thrombus size markedly decreased. Cerebellar infarction caused by acute subclavian thrombosis following minor trauma is rare, but the thrombus can be successfully resolved with anticoagulation.
Brain Infarction/*diagnosis/etiology/pathology
;
Cerebellar Diseases/diagnosis/etiology
;
Female
;
Humans
;
Magnetic Resonance Imaging
;
Middle Aged
;
Thrombosis/*complications

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