Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

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.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

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.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

Ectopic kidney is a rare congenital anomaly which occurs in approximately 1 in 1,000 live births. Intrathoracic kidney is the rarest type of the ectopic kidney, which constitutes < 5% of all ectopic kidney cases. It is often associated with congenital diaphragmatic hernia, which can cause severe respiratory distress. However, most patients with intrathoracic kidney are asymptomatic, and incidentally diagnosed with prenatal ultrasonography or chest radiography after birth as intrathoracic mass-like lesion. In this study, we report a case of an asymptomatic neonate with intrathoracic kidney. An intrathoracic mass was detected in plain chest radiography of a 17-day-old boy, and it was identified as the right kidney in the thoracic cavity by computed tomography and ultrasonography.Correction of the ectopic kidney and repair of diaphragmatic hernia were successful at the age of 52 days. After the operation, the right kidney was normally detected in the right renal fossa, and there was no recurrence of diaphragmatic hernia. To the best of our knowledge, the present case is the only reported case of intrathoracic kidney at the neonatal period, in South Korea. Careful review of chest radiography at the neonatal period and clinical suspicion of rare diseases like herniation of intraabdominal organ are needed.

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: We aimed to evaluate the effects of baked egg and milk diets on the prognosis of immunoglobulin E (IgE)-mediated food allergy in young children. Methods: In this retrospective study, we enrolled children under 36 months of age who were diagnosed with egg or milk allergy between January 2020 and July 2023. The consumption group underwent oral food challenges with baked egg or milk, and was instructed to include baked eggs and milk in their diet for at least 6 months. The control group, matched for age and specific IgE (sIgE) levels, restricted these foods. We compared the age at which tolerance was achieved, and analyzed changes in total IgE and sIgE levels against egg white (EW), ovomucoid (OM), and cow’s milk (CM) in both groups. Results: Data were collected from 24 children in both the consumption and control groups. The consumption group demonstrated a significantly earlier acquisition of tolerance to egg and milk allergies compared to the control group (median: 24 vs. 31 months, P= 0.045). In the consumption group, total IgE and CM-sIgE levels showed no significant changes (P= 0.073 and P= 0.118, respectively), while EW- and OM-sIgE levels significantly decreased (P < 0.001 and P = 0.016, respectively). In the control group, total IgE and CM-sIgE levels significantly increased from baseline (P = 0.038 and P < 0.001, respectively), whereas there were no significant changes in EW- and OM-sIgE levels (P = 0.054 and P = 0.190, respectively). Between the consumption and control groups, no significant differences were observed in the changes in total IgE or specific IgE to EW, OM, and CM before and after the observation period (P = 0.404, P = 0.238, P = 0.531, and P = 0.167, respectively). Conclusion These findings suggest that diets of baked eggs and milk may accelerate the development of tolerance in children with egg or milk allergies.

Purpose: We aimed to evaluate the effects of baked egg and milk diets on the prognosis of immunoglobulin E (IgE)-mediated food allergy in young children. Methods: In this retrospective study, we enrolled children under 36 months of age who were diagnosed with egg or milk allergy between January 2020 and July 2023. The consumption group underwent oral food challenges with baked egg or milk, and was instructed to include baked eggs and milk in their diet for at least 6 months. The control group, matched for age and specific IgE (sIgE) levels, restricted these foods. We compared the age at which tolerance was achieved, and analyzed changes in total IgE and sIgE levels against egg white (EW), ovomucoid (OM), and cow’s milk (CM) in both groups. Results: Data were collected from 24 children in both the consumption and control groups. The consumption group demonstrated a significantly earlier acquisition of tolerance to egg and milk allergies compared to the control group (median: 24 vs. 31 months, P= 0.045). In the consumption group, total IgE and CM-sIgE levels showed no significant changes (P= 0.073 and P= 0.118, respectively), while EW- and OM-sIgE levels significantly decreased (P < 0.001 and P = 0.016, respectively). In the control group, total IgE and CM-sIgE levels significantly increased from baseline (P = 0.038 and P < 0.001, respectively), whereas there were no significant changes in EW- and OM-sIgE levels (P = 0.054 and P = 0.190, respectively). Between the consumption and control groups, no significant differences were observed in the changes in total IgE or specific IgE to EW, OM, and CM before and after the observation period (P = 0.404, P = 0.238, P = 0.531, and P = 0.167, respectively). Conclusion These findings suggest that diets of baked eggs and milk may accelerate the development of tolerance in children with egg or milk allergies.