Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Purpose: The novel curability criteria for elderly (EL) patients have been proposed to stratify their risk of lymph node metastasis (LNM), following non-curative endoscopic submucosal dissection (ESD) for early gastric cancer (EGC). Hence, this study aimed to evaluate the effectiveness of the EL criteria and compare them with those of the well-known eCura system. Materials and Methods: A retrospective analysis was performed on 143 patients who did not meet the curative ESD criteria at a tertiary hospital in Korea between 2011 and 2022. Of these, 102 underwent additional surgery, while 41 were followed up without further treatment. The LNM rates based on the EL and eCura systems were stratified and compared. Results: In the surgery group, 29.4% (30/102) patients were classified as EL-low (EL-L) and 70.2% (72/102) as EL-high (EL-H). The LNM rates (95% confidence interval) were 0.0% (0.0–11.6) and 9.7% (4.0–19.0) for EL-L and EL-H, respectively (P=0.102). EL-L was closely aligned with the eCura low-risk category, with a similar patient proportion (32.4%) and an LNM rate of 0.0% (0.0–10.6). The eCura system classified 94.1% (48/51) of the EL-L patients as lowrisk, with an 86% concordance rate (123/143). Discordant cases included patients with positive vertical margins, but without other risk factors, who were classified as EL-H without LNM. Conclusions Patients with EL-L showed no LNM, and the EL criteria demonstrated high concordance with the eCura system. The EL criteria may be as effective as the eCura system in identifying low-risk patients after non-curative ESD for EGC.

Purpose: The classification of asthma phenotypes frequently depends on the age of onset. However, the rationale for specific age cutoffs remains unclear. This study aimed to explore the distribution of asthma onset age, to define subgroups based on onset age, and to examine their characteristics within a broad Korean population. Methods: An analysis of cross-sectional data involving 56,632 participants from the Korean National Health and Nutrition Examination Survey (2010–2016) was conducted. Data on asthma history, including diagnosis, self-reported age of asthma onset, and current disease status, were collected using structured questionnaires. Results: The distribution of asthma onset age showed a distinct peak in early childhood, with a decline between the ages 15 and 20.Based on this distribution, asthma was categorized into childhood-onset ( ≤ 18 years) and adult-onset ( > 18 years) for further analysis.Multivariate analyses indicated that adult-onset asthma was associated with older age, female sex, obesity, and a history of smoking, whereas childhood-onset asthma was linked to younger age, male sex, allergic rhinitis, and atopic dermatitis. Among the adultonset group, current asthma had a later onset age, increased history of smoking history, and atopic dermatitis compared to past asthma. Conclusion This analysis of nationwide general population data suggests that an age threshold around 18 years may be relevant for defining adult-onset asthma.

Purpose: The classification of asthma phenotypes frequently depends on the age of onset. However, the rationale for specific age cutoffs remains unclear. This study aimed to explore the distribution of asthma onset age, to define subgroups based on onset age, and to examine their characteristics within a broad Korean population. Methods: An analysis of cross-sectional data involving 56,632 participants from the Korean National Health and Nutrition Examination Survey (2010–2016) was conducted. Data on asthma history, including diagnosis, self-reported age of asthma onset, and current disease status, were collected using structured questionnaires. Results: The distribution of asthma onset age showed a distinct peak in early childhood, with a decline between the ages 15 and 20.Based on this distribution, asthma was categorized into childhood-onset ( ≤ 18 years) and adult-onset ( > 18 years) for further analysis.Multivariate analyses indicated that adult-onset asthma was associated with older age, female sex, obesity, and a history of smoking, whereas childhood-onset asthma was linked to younger age, male sex, allergic rhinitis, and atopic dermatitis. Among the adultonset group, current asthma had a later onset age, increased history of smoking history, and atopic dermatitis compared to past asthma. Conclusion This analysis of nationwide general population data suggests that an age threshold around 18 years may be relevant for defining adult-onset asthma.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

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.

Purpose: The novel curability criteria for elderly (EL) patients have been proposed to stratify their risk of lymph node metastasis (LNM), following non-curative endoscopic submucosal dissection (ESD) for early gastric cancer (EGC). Hence, this study aimed to evaluate the effectiveness of the EL criteria and compare them with those of the well-known eCura system. Materials and Methods: A retrospective analysis was performed on 143 patients who did not meet the curative ESD criteria at a tertiary hospital in Korea between 2011 and 2022. Of these, 102 underwent additional surgery, while 41 were followed up without further treatment. The LNM rates based on the EL and eCura systems were stratified and compared. Results: In the surgery group, 29.4% (30/102) patients were classified as EL-low (EL-L) and 70.2% (72/102) as EL-high (EL-H). The LNM rates (95% confidence interval) were 0.0% (0.0–11.6) and 9.7% (4.0–19.0) for EL-L and EL-H, respectively (P=0.102). EL-L was closely aligned with the eCura low-risk category, with a similar patient proportion (32.4%) and an LNM rate of 0.0% (0.0–10.6). The eCura system classified 94.1% (48/51) of the EL-L patients as lowrisk, with an 86% concordance rate (123/143). Discordant cases included patients with positive vertical margins, but without other risk factors, who were classified as EL-H without LNM. Conclusions Patients with EL-L showed no LNM, and the EL criteria demonstrated high concordance with the eCura system. The EL criteria may be as effective as the eCura system in identifying low-risk patients after non-curative ESD for EGC.

Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.