1.The Incidence of Occult Malignancy in Contralateral Risk Reducing Mastectomy Among Affected Breast Cancer Gene Mutation Carriers in South Korea
Cho Eun LEE ; Dong Seung SHIN ; Ki Jo KIM ; Seok Jin NAM ; Seok Won KIM ; Jonghan YU ; Byung Joo CHAE ; Se Kyung LEE ; Jai Min RYU ; Goo-Hyun MUN ; Jai-Kyong PYON ; Byung-Joon JEON ; Kyongje WOO ; Jeong Eon LEE
Journal of Breast Cancer 2025;28(1):1-10
Purpose:
Breast cancer gene (BRCA) mutation is a well-known risk factor for breast cancer, and clinical interest in prophylactic mastectomy has increased in recent years.We investigated patients who were BRCA mutation carriers and underwent contralateral risk-reducing mastectomy (RRM), focusing on the incidence of occult malignancy after contralateral RRM.
Methods:
Prospectively collected data of patients with breast cancer treated at a single institution were retrospectively reviewed. Patients who underwent RRM with BRCA mutation who underwent RRM between January 2010 and November 2023 were included in this study.Among patients who underwent contralateral RRM, those with a primary cancer diagnosis were included, and those with occult malignancy on the contralateral RRM side were reviewed additionally. The demographics and pathologies of both primary breast cancer and occult malignancies were evaluated.
Results:
In our institution, 925 patients were identified as BRCA mutation carriers, and 320 patients underwent contralateral RRM along with primary breast cancer surgery. BRCA2 mutation occurred more frequently (54.8%) in the overall BRCA mutation cohort. Furthermore, we reviewed 320 patients diagnosed with breast cancer and detected as BRCA mutation carriers who underwent contralateral RRM; high proportion of them were BRCA1 mutation carriers.Interestingly, we found a low incidence of only seven patients (2.2%) with occult malignancy on contralateral RRM side, which is different from that reported in other nations.
Conclusion
The incidence of occult malignancy in the contralateral breast of breast cancer patients with breast cancer with BRCA mutation is significantly low, and may be influenced by several factors. Increased utilization of screening and advancements in diagnostic technologies in South Korea have reduced the chance of occult malignancy in RRM, and a variety of pathologic examination methods may affect the rate of incidence.
2.Impact of HER2-Low Status on Pathologic Complete Response and Survival Outcome Among Breast Cancer Patients Undergoing Neoadjuvant Chemotherapy
Young Joo LEE ; Tae-Kyung YOO ; Sae Byul LEE ; Il Yong CHUNG ; Hee Jeong KIM ; Beom Seok KO ; Jong Won LEE ; Byung Ho SON ; Sei Hyun AHN ; Hyehyun JEONG ; Jae Ho JUNG ; Jin-Hee AHN ; Kyung Hae JUNG ; Sung-Bae KIM ; Hee Jin LEE ; Gyungyub GONG ; Jisun KIM
Journal of Breast Cancer 2025;28(1):11-22
Purpose:
This study analyzed the pathological complete response (pCR) rates, long-term outcomes, and biological features of human epidermal growth factor receptor 2 (HER2)-zero, HER2-low, and HER2-positive breast cancer patients undergoing neoadjuvant treatment.
Methods:
This single-center study included 1,667 patients who underwent neoadjuvant chemotherapy from 2008 to 2014. Patients were categorized by HER2 status, and their clinicopathological characteristics, chemotherapy responses, and recurrence-free survival (RFS) rates were analyzed.
Results:
Patients with HER2-low tumors were more likely to be older (p = 0.081), have a lower histological grade (p < 0.001), and have hormone receptor (HorR)-positive tumors (p < 0.001). The HER2-positive group exhibited the highest pCR rate (23.3%), followed by the HER2-zero (15.5%) and HER2-low (10.9%) groups. However, the pCR rate did not differ between HER2-low and HER2-zero tumors in the HorR-positive or HorR-negative subgroups.The 5-year RFS rates increased in the following order: HER2-low, HER2-positive, and HER2-zero (80.0%, 77.5%, and 74.5%, respectively) (log-rank test p = 0.017). A significant survival difference between patients with HER2-low and HER2-zero tumors was only identified in HorR-negative tumors (5-year RFS for HER2-low, 74.5% vs. HER2-zero, 66.0%; log-rank test p-value = 0.04). Multivariate survival analysis revealed that achieving a pCR was the most significant factor associated with improved survival (hazard ratio [HR], 4.279; p < 0.001).Compared with HER2-zero, the HRs for HER2-low and HER2-positive tumors were 0.787 (p = 0.042) and 0.728 (p = 0.005), respectively. After excluding patients who received HER2-targeted therapy, patients with HER2-low tumors exhibited better RFS than those with HER2-zero (HR 0.784, p = 0.04), whereas those with HER2-positive tumors exhibited no significant difference compared with those with HER2-low tumors (HR, 0.975; p = 0.953).
Conclusion
Patients with HER2-low tumors had no significant difference in pCR rate compared to HER2-zero but showed better survival, especially in HorR-negative tumors.Further investigation into biological differences is warranted.
3.Genome-Wide Association Study Identifying a Novel Gene Related to a History of Febrile Convulsions in Patients With Focal Epilepsy
Joonho KIM ; Hye Jeong LEE ; Hyung Jun PARK ; Ji Hyun LEE ; Won-Joo KIM
Journal of Clinical Neurology 2025;21(2):123-130
Background:
and Purpose The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genomewide association study of Korean epilepsy patients.
Methods:
We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history.
Results:
Among 288,394 SNPs, 5 candidate SNPs showed p<1×10-4 . Regional association plots of these SNPs identified a novel locus adjacent to PROX1 that is implicated in hippocampal neurogenesis and epileptogenesis. The allele frequencies of the SNPs upstream of PROX1 including two candidate SNPs (rs1159179 and rs7554295 on chromosome 1) differed significantly between the groups with and without an FC history. In contrast, the allele frequencies of the SNPs inside PROX1 showed no differences, indicating dysregulated expression of PROX1 rather than a functional alteration in the PROX1 protein.
Conclusions
This novel discovery of SNPs upstream of PROX1 suggests that the dysregulated expression of PROX1 contributes to the development of focal epilepsy following FC. We propose that these SNPs are potential genetic markers for focal epilepsy following FC, and that PROX1 represents a potential therapeutic target of antiseizure medications.
4.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
5.Korean Practice Guidelines for Gastric Cancer 2024: An Evidence-based, Multidisciplinary Approach (Update of 2022 Guideline)
In-Ho KIM ; Seung Joo KANG ; Wonyoung CHOI ; An Na SEO ; Bang Wool EOM ; Beodeul KANG ; Bum Jun KIM ; Byung-Hoon MIN ; Chung Hyun TAE ; Chang In CHOI ; Choong-kun LEE ; Ho Jung AN ; Hwa Kyung BYUN ; Hyeon-Su IM ; Hyung-Don KIM ; Jang Ho CHO ; Kyoungjune PAK ; Jae-Joon KIM ; Jae Seok BAE ; Jeong Il YU ; Jeong Won LEE ; Jungyoon CHOI ; Jwa Hoon KIM ; Miyoung CHOI ; Mi Ran JUNG ; Nieun SEO ; Sang Soo EOM ; Soomin AHN ; Soo Jin KIM ; Sung Hak LEE ; Sung Hee LIM ; Tae-Han KIM ; Hye Sook HAN ; On behalf of The Development Working Group for the Korean Practice Guideline for Gastric Cancer 2024
Journal of Gastric Cancer 2025;25(1):5-114
Gastric cancer is one of the most common cancers in both Korea and worldwide. Since 2004, the Korean Practice Guidelines for Gastric Cancer have been regularly updated, with the 4th edition published in 2022. The 4th edition was the result of a collaborative work by an interdisciplinary team, including experts in gastric surgery, gastroenterology, endoscopy, medical oncology, abdominal radiology, pathology, nuclear medicine, radiation oncology, and guideline development methodology. The current guideline is the 5th version, an updated version of the 4th edition. In this guideline, 6 key questions (KQs) were updated or proposed after a collaborative review by the working group, and 7 statements were developed, or revised, or discussed based on a systematic review using the MEDLINE, Embase, Cochrane Library, and KoreaMed database. Over the past 2 years, there have been significant changes in systemic treatment, leading to major updates and revisions focused on this area.Additionally, minor modifications have been made in other sections, incorporating recent research findings. The level of evidence and grading of recommendations were categorized according to the Grading of Recommendations, Assessment, Development and Evaluation system. Key factors for recommendation included the level of evidence, benefit, harm, and clinical applicability. The working group reviewed and discussed the recommendations to reach a consensus. The structure of this guideline remains similar to the 2022 version.Earlier sections cover general considerations, such as screening, diagnosis, and staging of endoscopy, pathology, radiology, and nuclear medicine. In the latter sections, statements are provided for each KQ based on clinical evidence, with flowcharts supporting these statements through meta-analysis and references. This multidisciplinary, evidence-based gastric cancer guideline aims to support clinicians in providing optimal care for gastric cancer patients.
6.Unlocking the Potential of Chest MRI: Strategies for Establishing a Successful Practice
Kyubin KIM ; Kun-Il KIM ; Ji Won LEE ; Yeon Joo JEONG
Journal of the Korean Society of Radiology 2025;86(1):83-104
Chest MRI is a valuable tool for assessing chest structures, particularly when CT produces inconclusive results. MRI provides exceptional soft-tissue resolution and enables the determination of lesion location, size, and invasion into neighboring structures. Its applications span various clinical scenarios, including the differentiation of non-tumorous and tumorous conditions in the mediastinum or pleura, planning of surgical interventions and treatments for such tumors, evaluation of post-treatment recurrence, staging of lung cancer, and diagnosis of progressive massive fibrosis. Despite the technical hurdles posed by cardiac and respiratory motion, advancements in sequence and scan techniques have enabled high-quality chest MRI examinations to be conducted across diverse clinical settings. This pictorial essay aims to offer comprehensive resources and strategies for radiologists to integrate chest MRI into clinical practice and to overcome its present challenges.
7.Outcomes of Deferring Percutaneous Coronary Intervention Without Physiologic Assessment for Intermediate Coronary Lesions
Jihoon KIM ; Seong-Hoon LIM ; Joo-Yong HAHN ; Jin-Ok JEONG ; Yong Hwan PARK ; Woo Jung CHUN ; Ju Hyeon OH ; Dae Kyoung CHO ; Yu Jeong CHOI ; Eul-Soon IM ; Kyung-Heon WON ; Sung Yun LEE ; Sang-Wook KIM ; Ki Hong CHOI ; Joo Myung LEE ; Taek Kyu PARK ; Jeong Hoon YANG ; Young Bin SONG ; Seung-Hyuk CHOI ; Hyeon-Cheol GWON
Korean Circulation Journal 2025;55(3):185-195
Background and Objectives:
Outcomes of deferring percutaneous coronary intervention (PCI) without invasive physiologic assessment for intermediate coronary lesions is uncertain.We sought to compare long-term outcomes between medical treatment and PCI of intermediate lesions without invasive physiologic assessment.
Methods:
A total of 899 patients with intermediate coronary lesions between 50% and 70% diameter-stenosis were randomized to the conservative group (n=449) or the aggressive group (n=450). For intermediate lesions, PCI was performed in the aggressive group, but was deferred in the conservative group. The primary endpoint was major adverse cardiac events (MACE, a composite of all-cause death, myocardial infarction [MI], or ischemia-driven any revascularization) at 3 years.
Results:
The number of treated lesions per patient was 0.8±0.9 in the conservative group and 1.7±0.9 in the aggressive group (p=0.001). At 3 years, the conservative group had a significantly higher incidence of MACE than the aggressive group (13.8% vs. 9.3%; hazard ratio [HR], 1.49; 95% confidence interval [CI], 1.00–2.21; p=0.049), mainly driven by revascularization of target intermediate lesion (6.5% vs. 1.1%; HR, 5.69; 95% CI, 2.20–14.73;p<0.001). Between 1 and 3 years after the index procedure, compared to the aggressive group, the conservative group had significantly higher incidence of cardiac death or MI (3.2% vs.0.7%; HR, 4.34; 95% CI, 1.24–15.22; p=0.022) and ischemia-driven any revascularization.
Conclusions
For intermediate lesions, medical therapy alone, guided only by angiography, was associated with a higher risk of MACE at 3 years compared with performing PCI, mainly due to increased revascularization.
8.Fasting is not always good: perioperative fasting leads to pronounced ketone body production in patients treated with SGLT2 inhibitors: a case report
Jae Chan CHOI ; Yo Nam JANG ; Jong Hoon LEE ; Sang Wook PARK ; Jeong A PARK ; Hye Sook KIM ; Jae Won CHOI ; Joo Hyung LEE ; Yong Jae LEE
Korean Journal of Family Medicine 2025;46(3):204-209
Ketone bodies produced by sodium-glucose cotransporter 2 (SGLT2) inhibitors can be advantageous, providing an efficient and stable energy source for the brain and muscles. However, in patients with diabetes, ketogenesis induced by SGLT2 inhibitors may be harmful, potentially resulting in severe diabetic ketoacidosis (DKA). During fasting, ketone body production serves as an alternative and efficient energy source for the brain by utilizing stored fat, promoting mental clarity, and reducing dependence on glucose. The concurrent use of SGLT2 inhibitors during perioperative fasting may further elevate the risk of euglycemic DKA. We describe a case of DKA that occurred during perioperative fasting in a patient receiving empagliflozin, an SGLT2 inhibitor. This case underscores the importance of recognizing the potential risk of DKA in patients with diabetes using SGLT2 inhibitors during perioperative fasting.
9.Unlocking the Potential of Chest MRI: Strategies for Establishing a Successful Practice
Kyubin KIM ; Kun-Il KIM ; Ji Won LEE ; Yeon Joo JEONG
Journal of the Korean Society of Radiology 2025;86(1):83-104
Chest MRI is a valuable tool for assessing chest structures, particularly when CT produces inconclusive results. MRI provides exceptional soft-tissue resolution and enables the determination of lesion location, size, and invasion into neighboring structures. Its applications span various clinical scenarios, including the differentiation of non-tumorous and tumorous conditions in the mediastinum or pleura, planning of surgical interventions and treatments for such tumors, evaluation of post-treatment recurrence, staging of lung cancer, and diagnosis of progressive massive fibrosis. Despite the technical hurdles posed by cardiac and respiratory motion, advancements in sequence and scan techniques have enabled high-quality chest MRI examinations to be conducted across diverse clinical settings. This pictorial essay aims to offer comprehensive resources and strategies for radiologists to integrate chest MRI into clinical practice and to overcome its present challenges.
10.Outcomes of Deferring Percutaneous Coronary Intervention Without Physiologic Assessment for Intermediate Coronary Lesions
Jihoon KIM ; Seong-Hoon LIM ; Joo-Yong HAHN ; Jin-Ok JEONG ; Yong Hwan PARK ; Woo Jung CHUN ; Ju Hyeon OH ; Dae Kyoung CHO ; Yu Jeong CHOI ; Eul-Soon IM ; Kyung-Heon WON ; Sung Yun LEE ; Sang-Wook KIM ; Ki Hong CHOI ; Joo Myung LEE ; Taek Kyu PARK ; Jeong Hoon YANG ; Young Bin SONG ; Seung-Hyuk CHOI ; Hyeon-Cheol GWON
Korean Circulation Journal 2025;55(3):185-195
Background and Objectives:
Outcomes of deferring percutaneous coronary intervention (PCI) without invasive physiologic assessment for intermediate coronary lesions is uncertain.We sought to compare long-term outcomes between medical treatment and PCI of intermediate lesions without invasive physiologic assessment.
Methods:
A total of 899 patients with intermediate coronary lesions between 50% and 70% diameter-stenosis were randomized to the conservative group (n=449) or the aggressive group (n=450). For intermediate lesions, PCI was performed in the aggressive group, but was deferred in the conservative group. The primary endpoint was major adverse cardiac events (MACE, a composite of all-cause death, myocardial infarction [MI], or ischemia-driven any revascularization) at 3 years.
Results:
The number of treated lesions per patient was 0.8±0.9 in the conservative group and 1.7±0.9 in the aggressive group (p=0.001). At 3 years, the conservative group had a significantly higher incidence of MACE than the aggressive group (13.8% vs. 9.3%; hazard ratio [HR], 1.49; 95% confidence interval [CI], 1.00–2.21; p=0.049), mainly driven by revascularization of target intermediate lesion (6.5% vs. 1.1%; HR, 5.69; 95% CI, 2.20–14.73;p<0.001). Between 1 and 3 years after the index procedure, compared to the aggressive group, the conservative group had significantly higher incidence of cardiac death or MI (3.2% vs.0.7%; HR, 4.34; 95% CI, 1.24–15.22; p=0.022) and ischemia-driven any revascularization.
Conclusions
For intermediate lesions, medical therapy alone, guided only by angiography, was associated with a higher risk of MACE at 3 years compared with performing PCI, mainly due to increased revascularization.

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