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.

Background: s/Aims: Reported incidence of extrahepatic bile duct cancer is higher in Asians than in Western populations. Korea, in particular, is one of the countries with the highest incidence rates of extrahepatic bile duct cancer in the world. Although research and innovative therapeutic modalities for extrahepatic bile duct cancer are emerging, clinical guidelines are currently unavailable in Korea. The Korean Society of Hepato-Biliary-Pancreatic Surgery in collaboration with related societies (Korean Pancreatic and Biliary Surgery Society, Korean Society of Abdominal Radiology, Korean Society of Medical Oncology, Korean Society of Radiation Oncology, Korean Society of Pathologists, and Korean Society of Nuclear Medicine) decided to establish clinical guideline for extrahepatic bile duct cancer in June 2021. Methods: Contents of the guidelines were developed through subgroup meetings for each key question and a preliminary draft was finalized through a Clinical Guidelines Committee workshop. Results: In November 2021, the finalized draft was presented for public scrutiny during a formal hearing. Conclusions The extrahepatic guideline committee believed that this guideline could be helpful in the treatment of patients.

Background/Aims: Gastroesophageal reflux disease (GERD) is typically managed based on the clinical phenotype. We evaluated the efficacy and safety of potassium-competitive acid blockers (PCABs) in patients with various clinical GERD phenotypes. Methods: Core databases were searched for studies comparing PCABs and proton pump inhibitors (PPIs) in clinical GERD phenotypes of erosive reflux disease (ERD), non-erosive reflux disease (NERD), PPI-resistant GERD and night-time heartburn. Additional analysis was performed based on disease severity and drug dosage, and pooled efficacy was calculated. Results: In 9 randomized controlled trials (RCTs) evaluating the initial treatment of ERD, the risk ratio for healing with PCABs versus PPIs was 1.09 (95% CI, 1.04-1.13) at 2 weeks and 1.03 (95% CI, 1.00-1.07) at 8 weeks, respectively. PCABs exhibited a significant increase in both initial and sustained healing of ERD compared to PPIs in RCTs, driven particularly in severe ERD (Los Angeles grade C/D).In 3 NERD RCTs, PCAB was superior to placebo in proportion of days without heartburn. Observational studies on PPI-resistant symptomatic GERD reported symptom frequency improvement in 86.3% of patients, while 90.7% showed improvement in PPIresistant ERD across 5 observational studies. Two RCTs for night-time heartburn had different endpoints, limiting meta-analysis. Pronounced hypergastrinemia was observed in patients treated with PCABs. Conclusions Compared to PPIs, PCABs have superior efficacy and faster therapeutic effect in the initial and maintenance therapy of ERD, particularly severe ERD. While PCABs may be an alternative treatment option in NERD and PPI-resistant GERD, findings were inconclusive in patients with night-time heartburn.

Purpose: The aim of this study was to assess the effects of tyrosine kinase inhibitors (TKIs) following metastasectomy in patients with metastatic renal cell carcinoma (mRCC). Materials and Methods: A systematic search of multiple electronic databases was conducted. The inclusion criteria encompassed randomized clinical trials evaluating the use of TKIs after metastasectomy in mRCC patients. Study outcomes were relapse-free survival (RFS)/disease-free survival (DFS), overall survival (OS), and adverse events of TKIs. Results: Two studies with 197 randomized participants that compared TKIs following metastasectomy versus metastasectomy alone were identified. According to these studies, TKIs following metastasectomy may result in little to no difference in RFS/DFS (hazard ratio [HR], 1.01; 95% confidence interval [CI], 0.65–1.57; I2=29%; low-certainty evidence). TKIs after metastasectomy may slightly increase OS, but the CI crossed the line of no effect (HR, 0.80; 95% CI, 0.06–9.87; I2=86%; low-certainty evidence). TKIs after metastasectomy likely resulted in a large increase in adverse events (risk ratio, 2.76; 95% CI: 1.65–4.62; I2=not applicable; moderatecertainty evidence). Conclusions TKIs following metastasectomy did not improve RFS/DFS, but slightly improved OS. It is likely that TKIs following metastasectomy increase adverse events compared to surgery only. The certainty of evidence ranged from moderate (signaling confidence that the reported effect size is likely close to the true effect) to low (indicating that the true effect may be substantially different from the effect estimate). The findings of this study should help to inform future guidelines and clinical decision-making at the point of care.

Adult pancreatic hemangioma is an extremely rare disease, with only 22 cases reported since 1939. Pancreatic hemangioma has no specific symptoms, diagnostic imaging, or laboratory findings, making it difficult to be clinically suspected and diagnosed. The majority are confirmed after surgery. In this report, a 61-year-old woman presented with melena and showed multiple small hyper- vascular lesions in the pancreas. A pancreatic neuroendocrine tumor was suspected, and the patient underwent a distal pancreatectomy. The pathology examination and immunohistochemical study revealed a pancreatic hemangioma.

The incidence of colorectal cancer (CRC) is increasing among young adults in several countries including the United States. Early-onset colorectal cancer (EO-CRC) is heterogenous group and appears to have a distinct clinical, pathologic, and molecular presentation compared to CRC diagnosed in older patients. EO-CRC patients tend to be diagnosed at later stage and with symptomatic disease. Tumors arise predominantly in the distal colon and rectum and have poorer histological features. Microsatellite and chromosome stable molecular pathway is frequently observed in EO-CRC. Survival data of EO-CRC is conflicting and younger patients tend to be treated more aggressively. It is important to identify high risk and have them screened appropriately to address increasing EO-CRC. Screening and treatment strategies for EO-CRC should be developed through further investigation of molecular mechanism and various environmental risk factors. In Korea, EO-CRC and late-onset CRC have both declined in recent several years, probably due to many screening colonoscopies in young population. Close observation and analysis of EO-CRC in Korea is necessary.
Colon ; Colonoscopy ; Colorectal Neoplasms ; Humans ; Incidence ; Korea ; Mass Screening ; Microsatellite Repeats ; Rectum ; Risk Factors ; United States ; Young Adult

The incidence of colorectal cancer (CRC) is increasing among young adults in several countries including the United States. Early-onset colorectal cancer (EO-CRC) is heterogenous group and appears to have a distinct clinical, pathologic, and molecular presentation compared to CRC diagnosed in older patients. EO-CRC patients tend to be diagnosed at later stage and with symptomatic disease. Tumors arise predominantly in the distal colon and rectum and have poorer histological features. Microsatellite and chromosome stable molecular pathway is frequently observed in EO-CRC. Survival data of EO-CRC is conflicting and younger patients tend to be treated more aggressively. It is important to identify high risk and have them screened appropriately to address increasing EO-CRC. Screening and treatment strategies for EO-CRC should be developed through further investigation of molecular mechanism and various environmental risk factors. In Korea, EO-CRC and late-onset CRC have both declined in recent several years, probably due to many screening colonoscopies in young population. Close observation and analysis of EO-CRC in Korea is necessary.
Colon ; Colonoscopy ; Colorectal Neoplasms ; Humans ; Incidence ; Korea ; Mass Screening ; Microsatellite Repeats ; Rectum ; Risk Factors ; United States ; Young Adult

PURPOSE: In the present study, factors related to the recurrence of breast ductal carcinoma in situ (DCIS) in Korean patients were identified, and the prognostic factors for each age group were explored.METHODS: The subjects were 226 patients who were diagnosed with DCIS by histopathologic examination, and the effect of representative prognostic factors that are known already, including estrogen receptor (ER), progesterone receptor (PR) and the human epidermal growth factor receptor 2 (HER2) status, Ki-67 levels, and adjuvant therapy on the recurrence of DCIS was analyzed by using the Cox proportional hazard model.RESULTS: Among the 226 subjects, 11 patients underwent the recurrence of breast cancer. The average follow-up period was 52.7±23.5 months. The average age of the subjects was 50.6±9.3 years. Among the DCIS patients, the recurrence of breast cancer was significantly higher in the ER negative patients and those who have a Ki-67 level over 20%. However, the PR and HER2 status did not significantly affect breast cancer recurrence. The result also showed that only ER negative was a significant factor before the age of 50 years and that only the Ki-67 level over 20% was a significant factor to the patients 50 years of age or older.CONCLUSION: DCIS patients should be appropriately treated and managed depending on their age and clinicopathological factors to prevent the recurrence of DCIS.
Breast Neoplasms ; Breast ; Carcinoma, Ductal ; Carcinoma, Intraductal, Noninfiltrating ; Estrogens ; Follow-Up Studies ; Humans ; Proportional Hazards Models ; Receptor, Epidermal Growth Factor ; Receptors, Progesterone ; Recurrence