Purpose: Targeted next-generation sequencing (NGS) panels for solid tumors have been useful in clinical framework for accurate tumor diagnosis and identifying essential molecular aberrations. However, most cancer panels have been designed to address a wide spectrum of pan-cancer models, lacking integral prognostic markers that are highly specific to gliomas. Materials and Methods: To address such challenges, we have developed a glioma-specific NGS panel, termed “GliomaSCAN,” that is capable of capturing single nucleotide variations and insertion/deletion, copy number variation, and selected promoter mutations and structural variations that cover a subset of intron regions in 232 essential glioma-associated genes. We confirmed clinical concordance rate using pairwise comparison of the identified variants from whole exome sequencing (WES), immunohistochemical analysis, and fluorescence in situ hybridization. Results: Our panel demonstrated high sensitivity in detecting potential genomic variants that were present in the standard materials. To ensure the accuracy of our targeted sequencing panel, we compared our targeted panel to WES. The comparison results demonstrated a high correlation. Furthermore, we evaluated clinical utility of our panel in 46 glioma patients to assess the detection capacity of potential actionable mutations. Thirty-two patients harbored at least one recurrent somatic mutation in clinically actionable gene. Conclusion We have established a glioma-specific cancer panel. GliomaSCAN highly excelled in capturing somatic variations in terms of both sensitivity and specificity and provided potential clinical implication in facilitating genome-based clinical trials. Our results could provide conceptual advance towards improving the response of genomically guided molecularly targeted therapy in glioma patients.

Mutations of the surfactant protein (SP)-C gene (SFTPC) have been associated with neonatal respiratory distress syndrome (RDS) and childhood interstitial lung disease (ILD). If accurate diagnosis and proper management are delayed, irreversible respiratory failure demanding lung transplantation may ensue. A girl was born at term but was intubated and given exogenous surfactant due to RDS. Cough and tachypnea persisted, and symptoms rapidly progressed at 16 months of age despite treatment with antibiotics, oral prednisolone, methylprednisolone pulse therapy, and intravenous immunoglobulin. At 20 months, she visited our hospital for a second opinion. A computed tomography scan showed a diffuse mosaic pattern with ground-glass opacity and subpleural cysts compatible with ILD. A video-assisted thoracoscopic lung biopsy revealed ILD with eosinophilic proteinaceous material and macrophages in the alveolar space. Bilateral lung transplant from a 30-month-old child was done, and she was discharged in room air without acute complications. Genetic analysis revealed a novel c.203T>A, p.Val68Asp mutation of SP-C, based on the same exon as a known pathogenic mutation, p.Glu66Lys.
Anti-Bacterial Agents ; Biopsy ; Child ; Child, Preschool ; Cough ; Diagnosis ; Eosinophils ; Exons ; Female ; Humans ; Immunoglobulins ; Lung Diseases, Interstitial* ; Lung Transplantation* ; Lung* ; Macrophages ; Methylprednisolone ; Prednisolone ; Referral and Consultation ; Respiratory Distress Syndrome, Newborn ; Respiratory Insufficiency ; Tachypnea

PURPOSE: To evaluate the efficacy and safety of extended-field radiation therapy for patients with thoracic superficial esophageal cancer (SEC). MATERIALS AND METHODS: From May 2007 to October 2016, a total of 24 patients with thoracic SEC (T1a and T1b) who underwent definitive radiotherapy and were analyzed retrospectively. The median total radiotherapy dose was 64 Gy (range, 54 to 66 Gy) in conventional fractionation. All 24 patients received radiotherapy to whole thoracic esophagus and 23 patients received elective nodal irradiation. The supraclavicular lymph nodes, the celiac lymph nodes, and both of those nodal areas were included in 11, 3, and 9 patients, respectively. RESULTS: The median follow-up duration was 28.7 months (range 7.9 to 108.0 months). The 3-year overall survival, local control, and progression-free survival rates were 95.2%, 89.7%, and 78.7%, respectively. There were 5 patients (20.8%) with progression of disease, 2 local failures (8.3%) and 3 (12.5%) regional failures. Three patients also experienced distant metastasis and had died of disease progression. There were no treatment-related toxicities of grade 3 or higher. CONCLUSION: Definitive extended-field radiotherapy for thoracic SEC showed durable disease control rates in medically inoperable and endoscopically unfit patients. Even extended-field radiotherapy with elective nodal irradiation was safe without grade 3 or 4 toxicities.
Disease Progression ; Disease-Free Survival ; Esophageal Neoplasms* ; Esophagus ; Follow-Up Studies ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Radiotherapy ; Retrospective Studies

PURPOSE: To evaluate the efficacy and safety of extended-field radiation therapy for patients with thoracic superficial esophageal cancer (SEC). MATERIALS AND METHODS: From May 2007 to October 2016, a total of 24 patients with thoracic SEC (T1a and T1b) who underwent definitive radiotherapy and were analyzed retrospectively. The median total radiotherapy dose was 64 Gy (range, 54 to 66 Gy) in conventional fractionation. All 24 patients received radiotherapy to whole thoracic esophagus and 23 patients received elective nodal irradiation. The supraclavicular lymph nodes, the celiac lymph nodes, and both of those nodal areas were included in 11, 3, and 9 patients, respectively. RESULTS: The median follow-up duration was 28.7 months (range 7.9 to 108.0 months). The 3-year overall survival, local control, and progression-free survival rates were 95.2%, 89.7%, and 78.7%, respectively. There were 5 patients (20.8%) with progression of disease, 2 local failures (8.3%) and 3 (12.5%) regional failures. Three patients also experienced distant metastasis and had died of disease progression. There were no treatment-related toxicities of grade 3 or higher. CONCLUSION: Definitive extended-field radiotherapy for thoracic SEC showed durable disease control rates in medically inoperable and endoscopically unfit patients. Even extended-field radiotherapy with elective nodal irradiation was safe without grade 3 or 4 toxicities.
Disease Progression ; Disease-Free Survival ; Esophageal Neoplasms* ; Esophagus ; Follow-Up Studies ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Radiotherapy ; Retrospective Studies

BACKGROUND/AIMS: Colonoscopy has emerged as the dominant colorectal cancer screening strategy, yet the data on the results of performing screening colonoscopy in asymptomatic average risk Koreans is limited. The aim of this study is to determine the results of screening colonoscopy at a community-based single center in Korea. METHODS: A total of 13,743 individuals (5,935 males and 7,808 females, age: 50.6+/-11.8 years) who underwent screening colonoscopy at a community based hospital from April 2006 to March 2008 were analyzed. RESULTS: Of the 13,743 subjects, neoplasia, advanced neoplasia and early colon cancer were detected in 3,270 subjects (23.8%), 315 subjects (2.3%) and 60 subjects (0.5%), respectively. The prevalence of neoplasia and advanced neoplasia increased with age (p<0.001), and this was higher among males as compared to that of females (p<0.001). Of the 3,666 subjects with neoplasia, 1,440 subjects (38.3%) had multiple neoplasia. Old age and male gender were associated with multiple neoplasia. CONCLUSIONS: The overall prevalence of colorectal neoplasia in asymptomatic average-risk Koreans at a community based hospital is comparable with that in a health care setting or university hospitals. Old age and male gender are associated with a higher risk of colorectal neoplasia and having multiple neoplasia.
Colonic Neoplasms ; Colonoscopy ; Colorectal Neoplasms ; Delivery of Health Care ; Female ; Hospitals, University ; Humans ; Korea ; Male ; Mass Screening ; Prevalence

In this study, we developed the protopype of QA phantom for image QA including an additional component for image based radiation treatment system. The new phantom considered two main parts: Image quality and fusion accuracy. Image quality part included for daily CT number linearity and spatial resolution, and fusion accuracy part designed to simulate a simple translation-rotation setting. The CT scans of the phantom obtained from conventional CT, MVCT of Tomotherapy unit, and both image sets were satisfied the recommendation of spatial resolution. This phantom was simple and efficient for daily imaging QA, and it is important to provide a new concept of verification of image registration.

BACKGROUND AND PURPOSE: This study compared the cognitive effects of 1 year of treatment with lamotrigine (LTG) and oxcarbazepine (OXC) in epilepsy patients. METHODS: This retrospective study investigated 60 epilepsy patients undergoing neuropsychological tests who were either newly diagnosed or untreated in the preceding 6 months. The cognitive function in 30 patients receiving LTG monotherapy and 30 age-matched patients receiving OXC monotherapy was compared after 1 year. The neuropsychological scores at baseline and all of the epilepsy-relevant variables except seizure type did not differ between the groups. The mean daily dosages of LTG and OXC at 1 year were 93 mg and 825 mg, respectively. RESULTS: The posttreatment list-learning performance was better in the LTG group than in the OXC group (p<0.05). The incidence of cognitive complaints did not differ between the two groups. The list-learning performance and Trail Making Test scores were better in each group after treatment. CONCLUSIONS: LTG and OXC monotherapies have similar, slightly beneficial effects on cognitive function, and are probably not harmful.
Cognition ; Epilepsy* ; Humans ; Incidence ; Neuropsychological Tests ; Retrospective Studies ; Seizures ; Trail Making Test

PURPOSE: To identify cognitive effects of lamotrigine (LTG) compared with valproate (VPA) in epilepsy patients after 1 year of treatment. METHODS: Cognitive tests and subjective complaints of 22 patients with LTG monotherapy (50-200 mg/day) were retrospectively compared with those of 22 patients with VPA monotherapy (500-1300 mg/day) at 1 year of medication. RESULTS: LTG group did not show any significant difference in the performance of cognitive tests compared with VPA group. The incidence of cognitive complaints between two drugs were also not different. Both groups showed a better performance of list learning and Trail Making Test type A after antiepileptic drug medication. CONCLUSION: The impact of LTG and VPA monotherapy on cognitive functioning is similar. Both drugs may not be harmful or rather slightly beneficial for cognitive functions.
Cognition ; Epilepsy* ; Humans ; Incidence ; Learning ; Retrospective Studies ; Trail Making Test ; Valproic Acid*

Recurrent hypersomnia is a disorder characterized by recurrent episodes of hypersomnia that typically occur weeks or months apart. We describe a 60-year-old woman with a four-year history of recurrent hypersomnia. Physical examinations, laboratory tests, and brain MRI showed no significant abnormality in the patient. Nocturnal polysomnographic study showed high sleep efficiency, absent sleep stage 3 and 4, and reduced sleep latency. The multiple sleep latency tests showed short sleep latency and five episodes of sleep-onset REM periods. This is the oldest known case of recurrent hypersomnia.
Brain ; Disorders of Excessive Somnolence* ; Female ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Physical Examination ; Sleep Stages

PURPOSE: To conduct a nationwide survey on the principles in radiotherapy for rectal cancer, and produce a database of Korean Patterns of Care Study. MATERIASL AND METHODS: We developed web-based Patterns of Care Study system and a national survey was conducted using random sampling based on power allocation methods. Eligible patients were who had postoperative radiotherapy for rectal cancer without gross residual tumor after surgical resection and without previous history of other cancer and radiotherapy to pelvis. Data of patients were inputted to the web based PCS system by each investigators in 19 institutions. RESULTS: Informations on 309 patients with rectal cancer who received radiotherapy between 1998 and 1999 were collected. Male to female ratio was 59 : 41, and the most common location of tumor was lower rectum (46%). Preoperative CEA was checked in 79% of cases and its value was higher than 6 ng/ml in 32%. Pathologic stage were I in 1.6%, II in 32%, III in 63%, and IV in 1.6%. Low anterior resection was the most common type of surgery and complete resection was performed in 95% of cases. Distal resection margin was less than 2 cm in 30%, and number of lymph node dissected was less than 12 in 31%. Chemotherapy was performed in 91% and most common regimen was 5-FU and leucovorine (69%). The most common type of field arrangement used for the initial pelvic field was the four field box (Posterior-Right-Left) technique (65.0%), and there was no AP-PA parallel opposing field used. Patient position was prone in 81.2%, and the boost field was used in 61.8%. To displace bowel outward, pressure modulating devices or bladder filling was used in 40.1%. Radiation dose was prescribed to isocenter in 45.3% and to isodose line in 123 cases (39.8%). Percent delivered dose over 90% was achieved in 92.9%. CONCLUSION: We could find the Patterns of Care for the radiotherapy in Korean rectal cancer patients was similar to that of US national survey. The type of surgery and the regimen of chemotherapy were variable according to institutions and the variations of radiation dose and field arrangement were within acceptable range.
Drug Therapy ; Female ; Fluorouracil ; Humans ; Leucovorin ; Lymph Nodes ; Male ; Neoplasm, Residual ; Pelvis ; Radiotherapy* ; Rectal Neoplasms* ; Rectum ; Research Personnel ; Urinary Bladder