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.

Purpose: We aimed to assess the real-world efficacy of nab-paclitaxel in metastatic breast cancer patients. Materials and Methods: This is a retrospective study performed in two tertiary referral hospitals in Korea. Patients with metastatic breast cancer treated with nab-paclitaxel (Abraxane®) between March 2016 and March 2020 were enrolled. Results: A total of 102 patients with metastatic breast cancer were included. Patients were heavily pre-treated with a median of four prior lines of chemotherapy (5 lines when including endocrine therapy in hormone-receptor-positive patients), and 66 patients (64.7%) were exposed to taxanes in the metastatic setting. According to St. Gallen molecular subtypes, 36 patients (35.3%) were luminal A, 28 (27.5%) were luminal B, 18 (17.7%) were human epidermal growth factor receptor 2–positive and 20 (19.6%) had triple-negative disease. Fifty patients (49.0%) were treated with a 3-weekly regimen (260 mg/m2 on day 1 every 3 weeks), and 52 (51.0%) were treated with a weekly regimen (100 mg/m2 every week). Objective response rate was 22.9%. After a median follow-up of 22.0 months, median progression-free survival (PFS) was 4.0 months (95% confidence interval [CI], 2.6 to 4.8) and median overall survival was 8.7 months (95% CI, 7.5 to 11.2). Patients treated with weekly regimen had longer PFS compared to 3-weekly regimen (5.5 vs. 2.3 months, p < 0.001). Multivariate analysis revealed the treatment regimen as an independent prognostic factor for PFS. There was no grade 3 or 4 hypersensitivity reaction. Conclusion This real-world data shows that nab-paclitaxel is a reasonable treatment option in heavily pre-treated and/or taxane-exposed metastatic breast cancer patients.

Purpose: Endocrine therapy is a standard treatment for hormone receptor-positive breast cancer, which accounts for 60%–75% of all breast cancer. Hormone receptor positivity is a prognostic and predictive biomarker in breast cancer. Approximately 50%–80% of breast cancer is also positive for androgen receptor (AR), but the prognostic and predictive value of AR expression in breast cancer is controversial. Here, we investigated AR expression and its prognostic value in patients with surgically resected breast cancer in Korea. Methods: We retrospectively reviewed the medical records of patients who had surgically resected breast cancer to collect AR expression data and other clinicopathological data. The optimal cut-off for AR positivity was determined using a receiver operating characteristic curve analysis. Results: We reviewed 957 patients with surgically resected breast cancer from June 2012 to April 2013. The median follow-up was 62 months, and relapse events occurred in 101 (10.6%) patients. Unlike the cut-off value of 1% or 10% in previous reports, 35% was determined to be best for predicting relapse-free survival (RFS) in this study. At the cut-off value of 35%, 654 (68.4%) patients were AR-positive. AR expression was more prevalent in luminal A (87.6%) and luminal B (73.1%) types than in human epidermal growth factor receptor 2-positive (56.2%) or triple-negative (20.6%) types. AR expression of ≥ 35% was significantly related to longer RFS in a multivariate analysis (hazard ratio, 0.430; 95% confidence interval, 0.260–0.709; p = 0.001). Conclusion We propose a cut-off value of 35% to best predict RFS in patients with surgically resected breast cancer. AR expression was positive in 68.4% of patients, and AR positivity was found to be an independent prognostic factor for longer RFS.

PURPOSE: In order to prevent tuberculosis transmission early, it is important to diagnose and treat tuberculosis infection by investigating people who have contact with patients with active tuberculosis. METHODS: From July 2014 to June 2017, the intrafamilial childhood contacts of the patients who were diagnosed with active tuberculosis at Chungnam National University Hospital were investigated for the presence of tuberculosis infection. We also retrospectively analyzed the treatment status of children treated with latent tuberculosis infection (LTBI) during the same period. RESULTS: Among the 269 children who had intrafamilial contact with active tuberculosis patient, 20 (7.4%) did not receive any screening. At the first screening, one (0.4%) was diagnosed with pulmonary tuberculosis, seven (2.8%) had a previous history of tuberculosis infection, and 42 patients (16.9%) were diagnosed with LTBI. At the second screening, 29 patients (11.6%) were diagnosed with LTBI, and 61 patients did not finish the investigation. Only 188 (69.9%) out of 269 patients completed the investigation. Ninety patients received treatment for LTBI and 83 patients (92.2%) completed the treatment, of which 18 patients had side effects such as rash, fatigue, and gastrointestinal symptoms. However, there were no serious side effects requiring treatment discontinuation. CONCLUSIONS: The completion rate of childhood tuberculosis contact investigation was low, but the completion rate of LTBI treatment was high in children without serious side effects. In order to prevent and manage the spread of tuberculosis, active private-public partnership efforts and education of the patient and guardian are needed.
Child ; Chungcheongnam-do ; Disease Transmission, Infectious ; Education ; Exanthema ; Fatigue ; Humans ; Latent Tuberculosis ; Mass Screening ; Retrospective Studies ; Tuberculosis ; Tuberculosis, Pulmonary

BACKGROUND: The clinical and pathological heterogeneity of progressive supranuclear palsy (PSP) is well established. Even with a well-defined clinical phenotype and a thorough laboratory workup, PSP can be misdiagnosed, especially in its early stages. CASE REPORT: A 52-year-old woman, who we initially diagnosed with a behavioral variant of frontotemporal dementia developed parkinsonian features, which then progressed to gait instability and gaze abnormality. CONCLUSIONS: We report herein a pathologically confirmed case of PSP presenting with behavioral changes including agitation and irritability, which eventually led to the cardinal symptoms of progressive supranuclear palsy.
Dihydroergotamine ; Female ; Frontotemporal Dementia ; Gait ; Humans ; Middle Aged ; Parkinsonian Disorders ; Phenotype ; Population Characteristics ; Supranuclear Palsy, Progressive

diopathic facial nerve paralysis after surgery is not common but has clinical significance. We report a case of facial nerve paralysis in the immediate postanesthetic period after cervical spine surgery. A 41-year-old man with cervical herniated disc was scheduled for cervical laminectomy. After uneventful surgery, he suffered from left facial numbness and weakness. Imaging study and audiogram couldn't reveal any anatomic abnormality except Thornwaldt cyst. Conservative treatment with steroids and antivirals resolved his symptoms until 16th day after surgery.
Adult ; Anesthesia, General ; Antiviral Agents ; Facial Nerve ; Facial Paralysis ; Humans ; Hypesthesia ; Intervertebral Disc Displacement ; Laminectomy ; Paralysis ; Spine ; Steroids

Anterograde amnesia in Behcet's disease is a rare occurrence. A 50-year-old man presented with anterograde amnesia. He had been suffering multiple oral aphthous ulcers and genital ulcers with erythema nodosum. A neurological examination revealed prominent anterograde memory disturbance. Brain MRI revealed high signal intensity lesions involving the anterior thalamus, posterior part of the basal ganglia and the mesial temporal lobe. We report a rare case of Behcet's disease manifesting severe anterograde amnesia resulting from thalamic and mesial temporal lesions.
Amnesia, Anterograde* ; Basal Ganglia ; Brain ; Erythema Nodosum ; Humans ; Magnetic Resonance Imaging ; Memory ; Middle Aged ; Neurologic Examination ; Stomatitis, Aphthous ; Temporal Lobe ; Thalamus ; Ulcer

BACKGROUND: Platelets play a key role in many occlusive vascular disorders and anti-platelet agents are the most important therapeutic strategy in preventing the recurrence of cerebral infarction. In order to know the platelet aggregability according to the strategy of anti-platelet agents, we measured platelet aggregability in patients who were taking anti-platelet agents for cerebral infarction. METHODS: Platelet aggregability in response to adenosine diphosphate (ADP) or collagen was measured in whole blood samples from 175 patients (48 females and 137 males). It was analyzed according to the type of cerebral infarction, vascular risk factors, and each anti-platelet agent. RESULTS: Platelet aggregability induced by ADP or collagen was significantly increased in patients with large artery atherosclerotic infarction compared to those with small vessel disease. Among anti-platelet regimens, combined therapy with aspirin and clopidogrel decreased platelet aggregability most effectively. CONCLUSIONS: These findings suggest that anti-platelet treatment should be tailored to the vascular status of each patient, and that combination therapy with aspirin and clopidogrel can effectively modulate platelet aggregability in preventing the recurrence of cerebral infarction.
Adenosine Diphosphate ; Arteries ; Aspirin ; Atherosclerosis ; Blood Platelets* ; Cerebral Arterial Diseases ; Cerebral Infarction* ; Collagen ; Female ; Humans ; Infarction ; Recurrence ; Risk Factors