1.Association between thyroid function and 10-year cardiovascular disease risk of patients with diabetes: a cross-sectional study using KNHANES 2013–2014
Bogyeong KIM ; Minjin JEON ; Yuseop LEE ; Hyunji REEM ; Seung Min CHUNG
Journal of Yeungnam Medical Science 2026;43(1):28-
Background:
This study investigated the association between thyroid function and the 10-year cardiovascular disease (CVD) risk in patients with diabetes.
Methods:
This retrospective cross-sectional study analyzed 246 patients with diabetes aged 30 to 79 years (weighted n=1,611,708) from the 2013 to 2014 Korea National Health and Nutrition Examination Survey. Individuals with a history of CVD, thyroid disease, or pregnancy were excluded. Thyroid function was categorized as euthyroid, hypothyroid, or hyperthyroid, based on serum thyroid-stimulating hormone (TSH) levels (reference in Koreans, 0.62–6.86 mIU/L). The 10-year CVD risk was estimated using the Predicting Risk of CVD EVENTs calculator.
Results:
The mean participant age was 54.3±10.1 years, with a male-to-female ratio of 1.41:1. Although patients with hypothyroid (14.1%) and hyperthyroid (15.7%) statuses showed a higher CVD risk than those with euthyroid status (12.3%), the difference was not statistically significant (p=0.337). However, in the hypothyroid group (n=11), TSH levels showed a moderate correlation with 10-year CVD risk (r=0.603, p<0.05), although this finding should be interpreted with caution owing to the small sample size. After adjusting for diabetes- and thyroid-related variables, TSH level was independently associated with higher estimated 10-year CVD risk, particularly in patients with a glycated hemoglobin level of <7% (adjusted coefficient, 0.17; 95% confidence interval, 0.05–0.29; p<0.05).
Conclusion
Monitoring TSH levels in patients with well-controlled diabetes may provide additional information regarding the risk of CVD; however, prospective studies are needed to confirm the long-term prognostic value.
2.Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease
Eun Pyo HONG ; Eun Jin HA ; Dong Hyuk YOUN ; Yuwhan CHUNG ; Kang Min KIM ; Sung Ho LEE ; Won-Sang CHO ; Hyun-Seung KANG ; Jin Pyeong JEON ; Jeong Eun KIM ;
Journal of Clinical Neurology 2026;22(2):160-172
Background:
and Purpose Whole-exome sequencing (WES) is a valuable tool for identifying causative mutations in adult moyamoya disease (MMD), thereby advancing our understanding of the genetic mechanisms underlying this condition. Here, we conducted the first WESbased association study aimed at identifying genetic modifiers implicated in MMD.
Methods:
This WES study involved 160 patients with MMD and 189 controls from a multicenter hospital-based biobank, and evaluated combined annotation-dependent depletion (CADD) scores. Mutant-allele frequencies were compared in 369,121 individuals derived from the UK Biobank (UKB) WES. Mutant-allele risk scores (MARSs) were created based on WESidentified mutations. Gene-based association analyses and pooled analyses in East-Asian populations were further performed.
Results:
Fourteen mutations reached the genome-wide significance criterion (p<5×10-8 ), among which the p.R4810K mutation in the ring finger protein 213 gene (RNF213) showed the strongest significance (odds ratio=117.4, p=8.54×10-24 ). Notably, two mutations—p.G576S (alpha-glucosidase [GAA]) and p.D54N (charged multivesicular body protein 6 [CHMP6])— exhibited high CADD scores of 32 and 25, respectively, whereas the RNF213 p.R4810K mutation demonstrated a moderate deleteriousness score of 10.63. Fourteen mutations exhibited significant differences in allele frequencies between patients and UKB controlled data (p<1×10-8 ).The MARS9 model (incorporating nine missense mutations) showed better predictability for MMD (90.89%). The analysis of gene-based associations revealed four candidate genes: GAA, RNF213, CHMP6, and CARD14 (p=5×10-19 to 4×10-7 ). The subsequent pooled analyses validated four mutations in East Asian populations: p.V1195M, p.D1331G, p.S2334N, and p.R4810K (p<3×10-8 ).
Conclusions
This pioneering study has corroborated the significance of p.R4810K and identified several causative mutations predisposing patients to MMD, which helps to improve the understanding of its polygenetic nature.
3.Clinical Analysis of Auricular Tumors
Jung Min PARK ; Gilmoon LEE ; Ki-Won KIM ; Seung Jae LEE ; Jeon Mi LEE
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(1):19-26
Background and Objectives:
Various distinct types of tumors can develop in the auricles; however, those have not been thoroughly studied clinically. The aim of the study is to assess the clinical nature of auricular tumors.Subjects and Method We retrospectively reviewed medical records and pathological findings in patients with auricular tumors who underwent surgical interventions at a single institution from January 2011 to October 2023. Cases in which the location of the tumor could be identified and pathological results were confirmed were included. We analyzed age, sex, tumor location and size, tumor occurrence period and causes, recurrence, and pathological results.
Results:
A total of 98 auricular tumors were included in the study. Auricular tumors were most commonly found on the lobule (32.3%), followed by the helix (30.1%) and the posterior auricle (15.1%). The most prevalent pathological type of auricular tumors was an epidermal cyst (45.2%), followed by keloid (21.5%). A single case of squamous cell carcinoma was reported. Eight tumors recurred following surgical resection, with five cases of keloid, two cases of epidermal cyst, and one case of squamous cell carcinoma, with an average recurrence interval of 6.1 months.
Conclusion
The present study assessed the largest number of auricular tumors collected in a single institution. Tumors with diverse clinical characteristics can develop in the auricle, and cosmetic considerations must be taken into account before undergoing surgical treatment. The findings of the present study could provide proper approaches to the auricular tumors.
4.Factors Associated with Postoperative Recurrence in Stage I to IIIA Non–Small Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation: Analysis of Korean National Population Data
Kyu Yean KIM ; Ho Cheol KIM ; Tae Jung KIM ; Hong Kwan KIM ; Mi Hyung MOON ; Kyongmin Sarah BECK ; Yang Gun SUH ; Chang Hoon SONG ; Jin Seok AHN ; Jeong Eun LEE ; Jae Hyun JEON ; Chi Young JUNG ; Jeong Su CHO ; Yoo Duk CHOI ; Seung Sik HWANG ; Chang Min CHOI ; Seung Hun JANG ; Jeong Uk LIM ;
Cancer Research and Treatment 2025;57(1):83-94
Purpose:
Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection.
Materials and Methods:
Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee.
Results:
A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors.
Conclusion
Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.
5.Factors Associated with Postoperative Recurrence in Stage I to IIIA Non–Small Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation: Analysis of Korean National Population Data
Kyu Yean KIM ; Ho Cheol KIM ; Tae Jung KIM ; Hong Kwan KIM ; Mi Hyung MOON ; Kyongmin Sarah BECK ; Yang Gun SUH ; Chang Hoon SONG ; Jin Seok AHN ; Jeong Eun LEE ; Jae Hyun JEON ; Chi Young JUNG ; Jeong Su CHO ; Yoo Duk CHOI ; Seung Sik HWANG ; Chang Min CHOI ; Seung Hun JANG ; Jeong Uk LIM ;
Cancer Research and Treatment 2025;57(1):83-94
Purpose:
Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection.
Materials and Methods:
Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee.
Results:
A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors.
Conclusion
Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.
6.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.
7.Factors Associated with Postoperative Recurrence in Stage I to IIIA Non–Small Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation: Analysis of Korean National Population Data
Kyu Yean KIM ; Ho Cheol KIM ; Tae Jung KIM ; Hong Kwan KIM ; Mi Hyung MOON ; Kyongmin Sarah BECK ; Yang Gun SUH ; Chang Hoon SONG ; Jin Seok AHN ; Jeong Eun LEE ; Jae Hyun JEON ; Chi Young JUNG ; Jeong Su CHO ; Yoo Duk CHOI ; Seung Sik HWANG ; Chang Min CHOI ; Seung Hun JANG ; Jeong Uk LIM ;
Cancer Research and Treatment 2025;57(1):83-94
Purpose:
Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection.
Materials and Methods:
Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee.
Results:
A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors.
Conclusion
Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.
8.Clinical Analysis of Auricular Tumors
Jung Min PARK ; Gilmoon LEE ; Ki-Won KIM ; Seung Jae LEE ; Jeon Mi LEE
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(1):19-26
Background and Objectives:
Various distinct types of tumors can develop in the auricles; however, those have not been thoroughly studied clinically. The aim of the study is to assess the clinical nature of auricular tumors.Subjects and Method We retrospectively reviewed medical records and pathological findings in patients with auricular tumors who underwent surgical interventions at a single institution from January 2011 to October 2023. Cases in which the location of the tumor could be identified and pathological results were confirmed were included. We analyzed age, sex, tumor location and size, tumor occurrence period and causes, recurrence, and pathological results.
Results:
A total of 98 auricular tumors were included in the study. Auricular tumors were most commonly found on the lobule (32.3%), followed by the helix (30.1%) and the posterior auricle (15.1%). The most prevalent pathological type of auricular tumors was an epidermal cyst (45.2%), followed by keloid (21.5%). A single case of squamous cell carcinoma was reported. Eight tumors recurred following surgical resection, with five cases of keloid, two cases of epidermal cyst, and one case of squamous cell carcinoma, with an average recurrence interval of 6.1 months.
Conclusion
The present study assessed the largest number of auricular tumors collected in a single institution. Tumors with diverse clinical characteristics can develop in the auricle, and cosmetic considerations must be taken into account before undergoing surgical treatment. The findings of the present study could provide proper approaches to the auricular tumors.
9.Clinical Analysis of Auricular Tumors
Jung Min PARK ; Gilmoon LEE ; Ki-Won KIM ; Seung Jae LEE ; Jeon Mi LEE
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(1):19-26
Background and Objectives:
Various distinct types of tumors can develop in the auricles; however, those have not been thoroughly studied clinically. The aim of the study is to assess the clinical nature of auricular tumors.Subjects and Method We retrospectively reviewed medical records and pathological findings in patients with auricular tumors who underwent surgical interventions at a single institution from January 2011 to October 2023. Cases in which the location of the tumor could be identified and pathological results were confirmed were included. We analyzed age, sex, tumor location and size, tumor occurrence period and causes, recurrence, and pathological results.
Results:
A total of 98 auricular tumors were included in the study. Auricular tumors were most commonly found on the lobule (32.3%), followed by the helix (30.1%) and the posterior auricle (15.1%). The most prevalent pathological type of auricular tumors was an epidermal cyst (45.2%), followed by keloid (21.5%). A single case of squamous cell carcinoma was reported. Eight tumors recurred following surgical resection, with five cases of keloid, two cases of epidermal cyst, and one case of squamous cell carcinoma, with an average recurrence interval of 6.1 months.
Conclusion
The present study assessed the largest number of auricular tumors collected in a single institution. Tumors with diverse clinical characteristics can develop in the auricle, and cosmetic considerations must be taken into account before undergoing surgical treatment. The findings of the present study could provide proper approaches to the auricular tumors.
10.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.

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