PURPOSE: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data. MATERIALS AND METHODS: To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared. RESULTS: We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration. CONCLUSION: In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.
Academies and Institutes ; Asian Continental Ancestry Group ; DNA ; Humans ; Korea ; Methods ; Paraffin ; Point Mutation ; Precision Medicine ; Prevalence

BACKGROUND/OBJECTIVES: Despite the importance of a low-iodine diet (LID) for thyroid cancer patients preparing for radioactive iodine (RAI) therapy, few studies have evaluated dietary intake during LID. This study evaluated the amount of dietary iodine intake and its major food sources during a typical diet and during LID periods for thyroid cancer patients preparing for RAI therapy, and examined how the type of nutrition education of LID affects iodine intake. SUBJECTS/METHODS: A total of 92 differentiated thyroid cancer patients with total thyroidectomy were enrolled from Seoul National University Hospital. All subjects completed three days of dietary records during usual and low-iodine diets before 131I administration. RESULTS: The median iodine intake was 290 µg/day on the usual diet and 63.2 µg/day on the LID. The major food groups during the usual diet were seaweed, salted vegetables, fish, milk, and dairy products and the consumption of these foods decreased significantly during LID. The mean energy intake on the LID was 1,325 kcal, which was 446 kcal lower than on the usual diet (1,771 kcal). By avoiding iodine, the intake of most other nutrients, including sodium, was significantly reduced during LID (P < 0.005). Regarding nutritional education, intensive education was more effective than a simple education at reducing iodine intake. CONCLUSION: Iodine intake for thyroid cancer patients was significantly reduced during LID and was within the recommended amount. However, the intake of most other nutrients and calories was also reduced. Future studies are needed to develop a practical dietary protocol for a LID in Korean patients.
Dairy Products ; Diet Records ; Diet* ; Education ; Energy Intake ; Humans ; Iodine* ; Milk ; Seaweed ; Seoul ; Sodium ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy ; Vegetables

No abstract available.
Aged ; Anemia/diagnosis ; Bone Marrow Cells/pathology ; Chromosomes, Human, Pair 11 ; Electrophoresis ; Glomerulonephritis, IGA/complications/*diagnosis ; Hematuria/pathology ; Hemoglobin A/analysis ; Heterozygote ; Humans ; Male ; Renal Insufficiency/diagnosis ; beta-Globins/genetics ; beta-Thalassemia/*diagnosis/etiology

PURPOSE: To evaluate the effectiveness and safety of fentanyl-TTS in the management of radiotherapy induced acute pain and cancer pain treated with radiotherapy. MATERIALS AND METHODS: Our study was open labelled prospective phase IV multi-center study. the study population included patients with more 4 numeric rating scale(NRS) score pain although managed with other analgesics or more than 6 NRS score pain without analgesics. Patients divided into two groups; patients with radiotherapy induced pain (Group A) and patients with cancer pain treated with radiotherapy (Group B). All patients received 25 ug/hr of fentanyl transdermal patch. Primary end point was pain relief; second end points were change in patient quality of life, a degree of satisfaction for patients and clinician, side effects. RESULTS: Between March 2005 and June 2005, 312 patients from 26 participating institutes were registered, but 249 patients completed this study. Total number of patients in each group was 185 in Group A, 64 in Group B. Mean age was 60 years and male to female ratio was 76:24. Severe pain NRS score at 2 weeks after the application of fentanyl was decreased from 7.03 to 4.01, p=0.003. There was a significant improvement in insomnia, social functioning, and quality of life. A degree of satisfaction for patients and clinician was very high. The most common reasons of patients' satisfactions was good pain control. Ninety six patients reported side effect. Nausea was the most common side effect. There was no serious side effect. CONCLUSION: Fentanyl-TTS was effective in both relieving pain with good tolerability and improving the quality of life for patients with radiotherapy induced acute pain and cancer pain treated with radiotherapy. The satisfaction of the patients and doctors was good. There was no major side effect.
Academies and Institutes ; Acute Pain ; Analgesics ; Female ; Fentanyl* ; Humans ; Male ; Nausea ; Prospective Studies ; Quality of Life ; Radiotherapy* ; Sleep Initiation and Maintenance Disorders ; Transdermal Patch*

Age Distribution ; Dentistry ; Dentofacial Deformities ; Diagnosis ; Facial Asymmetry ; Female ; Genioplasty ; Humans ; Inpatients ; Jeollabuk-do ; Male ; Orthognathic Surgery ; Osteotomy ; Osteotomy, Sagittal Split Ramus ; Prognathism ; Retrognathia ; Surgery, Oral

We report a case of Pituicytoma, which is a rare brain tumor occuring in the sellar region. A 44-year-old woman presented with polyuria, polydipsia, visual disturbance, amenorrhea and galactorrhea 1 year prior to admission. A magnetic resonance image revealed a well enhancing pituitary mass with large suprasellar extension. There was no area of normal hyperintensity showing the posterior lobe of the pituitary gland. The tumor was subtotally removed via transsphenoidal surgery. Pathological examination of the surgical specimen showed astrocytes with spindle-shaped fibrillary cytoplams. Immunohistochemical staining was positive for glial fibrillary acidic protein, S-100, vimentin. Radiotherapy was not given after surgery.
Adult ; Amenorrhea ; Astrocytes ; Brain Neoplasms ; Female ; Galactorrhea ; Glial Fibrillary Acidic Protein ; Humans ; Pituitary Gland ; Polydipsia ; Polyuria ; Pregnancy ; Radiotherapy ; Vimentin

Two patients presenting with intraventricular meningioma and callosal astrocytoma are described. The first case is a 51 year old female presented with headache and paraparesis. Magnetic resonance imaging revealed meningioma in the left occipital horn of lateral ventricle and astrocytoma in the corpus callosum, which were confirmed by operative removal and biopsy respectively. The second patient had been removed the meningioma in the left lateral ventricle. Seven years later poorly marginated enhancing lesion was found on the corpus callusum which was confirmed as astrocytoma by computed tomography guided biopsy.
Animals ; Astrocytoma* ; Biopsy ; Brain Neoplasms* ; Corpus Callosum ; Female ; Headache ; Horns ; Humans ; Lateral Ventricles ; Magnetic Resonance Imaging ; Meningioma* ; Middle Aged ; Paraparesis

OBJECTIVES: Gliomatosis cerebri is an uncommon primary brain tumor characterized by diffuse neoplastic proliferation of glial cells, with the preservation of the underlying cytoarchitecture. The aim of this study is to evaluate clinical features, outcome of surgical treatment and adjuvant therapy of gliomatosis cerebri. METHODS: Between Jan. 1990 and Dec. 2000, 12 patients were diagnosed with gliomatosis cerebri based on characteristic radiological and histological findings. The patients' age ranged from 18 to 77(mean 44) years and the male to female ratio was 7: 5. Nine patients underwent decompressive surgery and three, biopsy only. Postoperative radiation therapy was given in all cases except three. In addition to radiation therapy, four patients received chemotherapy. The mean duration of follow-up period was 18.8 months. RESULTS: The most common presenting symptom were seizure and motor weakness. The mean duration of symptom was 5.9 months. There was 5 bilateral lesions and tumor involved corpus callosum in 5, basal ganglia-thalamus in 4, and brain stem in 2. There was no operative mortality but four patients died during the follow-up. The mean survival period for 11 patients was 20.5 months from the time of diagnosis. In univariate analysis, the lesion involving corpus callosum, basal ganglia-thalamus and brain stem correlated significantly with the short length of survival(p<0.05). Also, postoperative radiation as a adjuvant therapy prolonged the patient's survival(p<0.05). CONCLUSIONS: In the management of gliomatosis cerebri patients, early detection by MR imaging, active management of increased intracranial pressure, decompressive surgical removal and postoperative adjuvant therapy such as radiation is thought to be a good treatment modality.
Biopsy ; Brain Neoplasms ; Brain Stem ; Corpus Callosum ; Diagnosis ; Drug Therapy ; Female ; Follow-Up Studies ; Humans ; Intracranial Pressure ; Magnetic Resonance Imaging ; Male ; Mortality ; Neoplasms, Neuroepithelial* ; Neuroglia ; Prognosis* ; Seizures

No abstract available.
Aneurysm* ; Humans ; Hydrocephalus*

No abstract available.