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: 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: 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.

Objective: We elucidated the effect of monochorionicity on neonatal and long-term neurologic outcomes on an individual basis in triplets. Methods: We retrospectively reviewed the perinatal outcomes and development and growth at 18 to 24 months corrected age (CA) of triplets born alive between 24 and 32 weeks of gestational age (GA) between 2009 and 2021 from the Seoul National University Hospital database. Neurod­evelopmental impairment (NDI) was defined as any delay among the Bayley-III domains (motor and language), cerebral palsy, hearing impairment, or visual loss and was performed at a CA of 18 to 24 months. Results: We included 40 sets of triplets (120 infants), comprising 26, 10, and 4 sets of trichorionic (TC), dichorionic (DC), and monochorionic (MC) triplets, respectively. Ten infants, unaffected by monochorionicity out of 30 DC infants, were included in the non-MC group. Eighty-eight infants were included in the non-MC group, and 32 infants were affected by monochorionicity. In vitro fertilization-embryo transfer was more frequent in the non-MC group (P<0.05), and twin-to-twin transfusion syndrome affected only the MC group (P<0.01). At 24 months of CA, a combined delay of language and cognition in Bayley-III was evident in the MC group (P<0.05). Although NDI did not significantly differ between the 2 groups (P=0.059), the composite outcome of NDI+ postnatal death was significantly different (P<0.05). NDI+ postnatal death correlated with GA, Z-score of birth weight, brain injury, and monochorionicity in the univariate analysis (P<0.05). Multivariate analysis revealed a significant correlation between monochorionicity and NDI+ postnatal death. (P<0.05). Conclusion Monochorionicity is associated with adverse long-term neurodevelopmental out comes.

Objective: Research on fetal mortality due to congenital anomalies is insufficient, particularly that utilizing data specific to South Korea. Thus, we aimed to investigate the characteristics and risk factors for fetal death due to congenital anomalies in Korea. Methods: Fetal deaths registered from 2009-2020 with Statistics Korea were assessed. Fetal charac teristics included gestational age, body weight, sex, and multiple fetuses, while maternal characteri stics included age, educational level, nationality, and place of residence. Risk factors for fetal death were analyzed using simple comparison and logistic regression. Changes in fetal mortality by year were examined using Poisson regression analysis. Results: A total of 37,928 fetal deaths occurred, among which 3,758 were classified as congenital anomaly, 710 as non-congenital anomaly, and 33,460 as unknown cause. Fetal mortality for gesta tional weeks 20 to 27 and ≥28 were 75.3% and 24.7%, respectively. The proportion of congenital anomalies among fetal deaths during these gestational age periods is 11.3% and 5.8%. Multiple fetuses, maternal age of <20 years or ≥40 years were identified as risk factors for fetal death due to congenital anomalies. Among the top 30 causes, covering 97.5% of all deaths, unspecified causes were 88.2%, congenital malformations 8.2%, and other causes 2.0%, respectively. Fetal mortality and deaths from congenital anomalies exhibited downward trends. Conclusion Fetal deaths due to congenital anomalies showed a decreasing trend, but the risks, such as multiple fetuses and advanced maternal age are increasing in Korea. Therefore, careful monitoring of fetal deaths due to congenital anomalies are essential.

Objective: We elucidated the effect of monochorionicity on neonatal and long-term neurologic outcomes on an individual basis in triplets. Methods: We retrospectively reviewed the perinatal outcomes and development and growth at 18 to 24 months corrected age (CA) of triplets born alive between 24 and 32 weeks of gestational age (GA) between 2009 and 2021 from the Seoul National University Hospital database. Neurod­evelopmental impairment (NDI) was defined as any delay among the Bayley-III domains (motor and language), cerebral palsy, hearing impairment, or visual loss and was performed at a CA of 18 to 24 months. Results: We included 40 sets of triplets (120 infants), comprising 26, 10, and 4 sets of trichorionic (TC), dichorionic (DC), and monochorionic (MC) triplets, respectively. Ten infants, unaffected by monochorionicity out of 30 DC infants, were included in the non-MC group. Eighty-eight infants were included in the non-MC group, and 32 infants were affected by monochorionicity. In vitro fertilization-embryo transfer was more frequent in the non-MC group (P<0.05), and twin-to-twin transfusion syndrome affected only the MC group (P<0.01). At 24 months of CA, a combined delay of language and cognition in Bayley-III was evident in the MC group (P<0.05). Although NDI did not significantly differ between the 2 groups (P=0.059), the composite outcome of NDI+ postnatal death was significantly different (P<0.05). NDI+ postnatal death correlated with GA, Z-score of birth weight, brain injury, and monochorionicity in the univariate analysis (P<0.05). Multivariate analysis revealed a significant correlation between monochorionicity and NDI+ postnatal death. (P<0.05). Conclusion Monochorionicity is associated with adverse long-term neurodevelopmental out comes.

Objective: Research on fetal mortality due to congenital anomalies is insufficient, particularly that utilizing data specific to South Korea. Thus, we aimed to investigate the characteristics and risk factors for fetal death due to congenital anomalies in Korea. Methods: Fetal deaths registered from 2009-2020 with Statistics Korea were assessed. Fetal charac teristics included gestational age, body weight, sex, and multiple fetuses, while maternal characteri stics included age, educational level, nationality, and place of residence. Risk factors for fetal death were analyzed using simple comparison and logistic regression. Changes in fetal mortality by year were examined using Poisson regression analysis. Results: A total of 37,928 fetal deaths occurred, among which 3,758 were classified as congenital anomaly, 710 as non-congenital anomaly, and 33,460 as unknown cause. Fetal mortality for gesta tional weeks 20 to 27 and ≥28 were 75.3% and 24.7%, respectively. The proportion of congenital anomalies among fetal deaths during these gestational age periods is 11.3% and 5.8%. Multiple fetuses, maternal age of <20 years or ≥40 years were identified as risk factors for fetal death due to congenital anomalies. Among the top 30 causes, covering 97.5% of all deaths, unspecified causes were 88.2%, congenital malformations 8.2%, and other causes 2.0%, respectively. Fetal mortality and deaths from congenital anomalies exhibited downward trends. Conclusion Fetal deaths due to congenital anomalies showed a decreasing trend, but the risks, such as multiple fetuses and advanced maternal age are increasing in Korea. Therefore, careful monitoring of fetal deaths due to congenital anomalies are essential.

Cardio-oncology is a critical field due to the escalating significance of cardiovascular toxicity as a side effect of anti‑ cancer treatments. Cancer therapy-related cardiac dysfunction (CTRCD) is a prevalent condition associated with car‑ diovascular toxicity, necessitating effective strategies for prediction, monitoring, management, and tracking. This comprehensive review examines the definition and risk stratification of CTRCD, explores monitoring approaches during anticancer therapy, and highlights specific cardiovascular toxicities linked to various cancer treatments. These include anthracyclines, HER2-targeted agents, vascular endothelial growth factor inhibitors, immune checkpoint inhibitors, chimeric antigen receptor T-cell therapies, and tumor-infiltrating lymphocytes therapies. Incorporating the Korean data, this review offers insights into the regional nuances in managing CTRCD. Using systematic follow-up incorporating cardiovascular imaging and biomarkers, a better understanding and management of CTRCD can be achieved, optimizing the cardiovascular health of both cancer patients and survivors.

Background: In this study, we examined the impact of a patient blood management (PBM) program on red blood cell (RBC) transfusion practices in cardiothoracic surgery. Methods: The PBM program had 3 components: monitoring transfusions through an order communication system checklist, educating the medical team about PBM, and providing feedback to ordering physicians on the appropriateness of transfusion. The retrospective analysis examined changes in the hemoglobin levels triggering transfusion and the proportions of appropriate RBC transfusions before, during, and after PBM implementation. Further analysis was focused on patients undergoing cardiac surgery, with outcomes including 30-day mortality, durations of intensive care unit and hospital stays, and rates of pneumonia, sepsis, and wound complications. Results: The study included 2,802 patients admitted for cardiothoracic surgery. After the implementation of PBM, a significant decrease was observed in the hemoglobin threshold for RBC transfusion. This threshold dropped from 8.7 g/dL before PBM to 8.3 g/dL during the PBM education phase and 8.0 g/dL during the PBM feedback period. Additionally, the proportion of appropriate RBC transfusions increased markedly, from 23.9% before PBM to 34.9% and 58.2% during the education and feedback phases, respectively. Among the 381 patients who underwent cardiac surgery, a significant reduction was noted in the length of hospitalization over time (p<0.001). However, other clinical outcomes displayed no significant differences. Conclusion PBM implementation effectively reduced the hemoglobin threshold for RBC transfusion and increased the rate of appropriate transfusion in cardiothoracic surgery. Although transfusion practices improved, clinical outcomes were comparable to those observed before PBM implementation.

Background: The treatment success rate for tuberculosis (TB) has stagnated at 80–81% in South Korea, indicating unsatisfactory outcomes. Enhancing treatment success rate necessitates the development of individualized treatment approaches for each patient. This study aimed to identify the risk factors associated with unfavorable treatment outcomes to facilitate tailored TB care. Methods: We retrospectively analyzed the data of patients with active TB between January 2019 and December 2020 at a single tertiary referral center. We classified unfavorable treatment outcomes according to the 2021 World Health Organization guidelines as follows:“lost to follow-up” (LTFU), “not evaluated” (NE), “death,” and “treatment failure” (TF).Moreover, we analyzed risk factors for each unfavorable outcome using Cox proportional hazard regression analysis. Results: A total of 659 patients (median age 62 years; male 54.3%) were included in the study.The total unfavorable outcomes were 28.1%: 4.6% LTFU, 9.6% NE, 9.1% deaths, and 4.9% TF. Multivariate analysis showed that a culture-confirmed diagnosis of TB was associated with a lower risk of LTFU (adjusted hazard ratio [aHR], 0.25; 95% confidence interval [CI], 0.10–0.63), whereas the occurrence of adverse drug reactions (ADRs) significantly increased the risk of LTFU (aHR, 6.63; 95% CI, 2.63–16.69). Patients living far from the hospital (aHR, 4.47; 95% CI, 2.50–7.97) and those with chronic kidney disease (aHR, 3.21; 95% CI, 1.33–7.75) were at higher risk of being transferred out to other health institutions (NE). Higher mortality was associated with older age (aHR, 1.06; 95% CI, 1.04–1.09) and comorbidities. The ADRs that occurred during TB treatment were a risk factor for TF (aHR, 6.88; 95% CI, 2.24–21.13). Conclusion Unfavorable outcomes of patients with TB were substantial at a tertiary referral center, and the risk factors for each unfavorable outcome varied. To improve treatment outcomes, close monitoring and the provision of tailored care for patients with TB are necessary.