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

A 38-year-old man, who underwent a second kidney transplantation (KT), was admitted because of antibody-mediated rejection (AMR) complicated by BK virus-associated nephropathy (BKVAN). He was placed on hemodialysis at the age of 24 years because of membranoproliferative glomerulonephritis. At the age of 28 years, he underwent a living donor KT from his father; however, 1 year after the transplantation, he developed a recurrence of the primary glomerular disease, resulting in graft failure 2 years after the first KT. Ten years later, he received a deceased-donor kidney with a B-cell-positive-cross-match. He received 600 mg of rituximab before the KT with three cycles of plasmapheresis and immunoglobulin (0.5 g/kg) therapy after KT. During the follow-up, the first and second allograft biopsies at 4 and 10 months after KT revealed AMR with a recurrence of primary glomerular disease that was reclassified as C3 glomerulonephritis (C3GN). He received a steroid pulse, rituximab, plasmapheresis, and immunoglobulin therapies. The third allograft biopsy demonstrated that the BKVAN was complicated with AMR and C3GN. As the azotemia did not improve after repeated conventional therapies for AMR, one cycle of bortezomib (1.3 mg/m²×4 doses) was administered. The allograft function stabilized, and BK viremia became undetectable after 6 months. The present case suggests that bortezomib therapy may be applicable to patients with refractory AMR, even in cases complicated with BKVAN.
Adult ; Allografts ; Azotemia ; Biopsy ; BK Virus ; Bortezomib* ; Fathers ; Follow-Up Studies ; Glomerulonephritis* ; Glomerulonephritis, Membranoproliferative ; Graft Rejection ; Humans ; Immunization, Passive ; Immunoglobulins ; Kidney ; Kidney Transplantation ; Living Donors ; Plasmapheresis ; Recurrence ; Renal Dialysis ; Rituximab ; Transplants ; Viremia

BACKGROUND: Spinal pain is most common symptom in pain clinic. In most cases, before the treatment of spinal pain, physician explains the patient's disease and treatment. We investigated patient's satisfaction and physician's explanation related to treatments in spinal pain patients by questionnaires. METHODS: Anonymous questionnaires about physician's explanation and patient's satisfaction in each treatment and post-treatment management were asked to individuals suffering from spinal pain. Patients who have spinal pain were participated in our survey of nationwide university hospitals in Korea. The relationships between patient's satisfaction and other factors were analyzed. RESULTS: Between June 2016 and August 2016, 1007 patients in 37 university hospitals completed the questionnaire. In the statistical analysis, patient's satisfaction of treatment increased when pain severity was low or received sufficient preceding explanation about nerve block and medication (P < 0.01). Sufficient explanation increased patient's necessity of a post-treatment management and patients' performance rate of post-treatment management (P < 0.01). CONCLUSIONS: These results show that sufficient explanation increased patients' satisfaction after nerve block and medication. Sufficient explanation also increased the practice of patients' post-treatment management.
Anonyms and Pseudonyms ; Hospitals, University ; Humans ; Korea ; Nerve Block ; Pain Clinics ; Patient Satisfaction*

Brunner’s gland hamartomas are small benign lesions that are most commonly found in the bulb of the duodenum. They are very uncommon, and most are found incidentally during upper gastrointestinal series or esophagogastroduodenoscopy. The lesions tend to be asymptomatic, but patients may present with symptoms of duodenal obstruction or hemorrhage secondary to ulceration. Histologically, a Brunner's gland hamartoma consists of the components of Brunner's gland cells, as well as glandular, adipose and muscle cells. In this study, we report the case of a 30-year-old man who presented with upper gastrointestinal bleeding and obstructive symptoms due to a giant Brunner's gland hamartoma in the duodenal bulb. The hamartoma was successfully removed by endoscopic resection. No significant complications were observed. Microscopically, the lesion was found to be entirely composed of variable Brunner's glands and adipocytes.
Adipocytes ; Adult ; Brunner Glands ; Duodenal Obstruction ; Duodenum ; Endoscopy, Digestive System ; Hamartoma* ; Hemorrhage* ; Humans ; Muscle Cells ; Ulcer

Neuromyelitis optica (NMO) is an inflammatory demyelinating disease of the central nervous system associated with longitudinally extensive myelitis and optic neuritis. It is characterized by relapses that lead to blindness and paralysis sequelaes. But, this is rare disease; therefore high clinical suspicion for a correct diagnosis and proper examinations are not easy. However, early diagnosis is essential to prevent sequelae. We report the case of NMO with headache. A 30-year male patient who suffered headache visited our pain clinic because of aggravated pain despite treatment. The cause of the pain was revealed as NMO by more detailed previous history and examination.
Blindness ; Central Nervous System ; Demyelinating Diseases ; Diagnosis ; Early Diagnosis ; Headache ; Humans ; Male ; Myelitis ; Neuromyelitis Optica* ; Optic Neuritis ; Pain Clinics ; Paralysis ; Post-Traumatic Headache* ; Rare Diseases ; Recurrence

Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality.
Arteriovenous Malformations ; Diagnostic Errors ; Early Diagnosis ; Herpes Zoster ; Neuralgia ; Neuralgia, Postherpetic ; Neurologic Manifestations ; Zoster Sine Herpete

There have been reports of abnormalities in the lumbosacral region involving a lower-than-normal termination of the dural sac, which is caused by disease or anatomical variation. Inadvertent dural puncture or other unexpected complications can occur during caudal epidural block or adhesiolysis in patients with these variations, but only a small number of case reports have described this issue. We report a case of dural puncture by the introducer needle before attempting caudal epidural adhesiolysis, which occurred even though the needle was not advanced upward after penetrating the sacrococcygeal ligament. Dural puncture was caused by a morphological abnormality in the lumbosacral region, with no pathological condition; the dural sac terminal was located more distally than normal. However, dural puncture could have been prevented if we had checked for such an abnormality in the magnetic resonance imaging (MRI) taken before the procedure.
Humans ; Ligaments ; Lumbosacral Region ; Magnetic Resonance Imaging ; Needles ; Punctures

Eagle's syndrome is a disease without a clear lesion that is associated with repeated episodes of pharyngalgia, odynophagia, the sensation of a foreign body in the pharynx, tinnitus, and otalgia in which patients displaying these types of symptoms must be given a differential diagnosis. It is known to be characterized by styloid process elongation or increasing compression to adjacent anatomical structures through stylohyoid ligament calcification. In serious cases, continuous pressure to the carotid artery can lead to a stroke. Diagnosis is confirmed through clinical symptoms, radiological findings, and physical examinations. The most common type of treatment consists of a surgical excision of elongated styloid process. Nonetheless, this study presents a case of treating Eagle's syndrome with conservative management.
Carotid Arteries ; Diagnosis, Differential ; Earache ; Foreign Bodies ; Humans ; Ligaments ; Ossification, Heterotopic ; Pharynx ; Physical Examination ; Sensation ; Stroke ; Temporal Bone ; Tinnitus

BACKGROUND: Gabapentin is a safe and well-tolerated anticonvulsant with a wide therapeutic index, and it is used for neuropathic pain. The aim of this study was to compare previous dosing methods with the administration of four different doses of gabapentin while maintaining the same maximum daily dose for the safe administration of high doses of the medication. METHODS: The subjects were outpatients with various neuropathic pain syndromes, with at least two of the following symptoms: allodynia, burning pain, shooting pain, or hyperalgesia. The TID group received equal doses of gabapentin 3 times per day, while the QID group received 4 different doses of gabapentin per day. The pain score, frequency of breakthrough pain (BTP), severity and the duration of pain, sleep disturbance due to nocturnal pain, and adverse effects were recorded each day. RESULTS: The average daily pain score and sleep disturbance were significantly reduced in the QID group between days 3 and 10 of the experiment. The adverse effects of the medication were also reduced in the QID group. However, the frequency of BTP and severity and duration of pain were not significantly different between two groups. CONCLUSIONS: Administration of 4 different doses of gabapentin during the initial titration in outpatients with neuropathic pain resulted in a significant reduction in awakening from breakthrough pain and a reduction in the adverse effects of the medication.
Ambulatory Care ; Amines ; Breakthrough Pain ; Burns ; Cyclohexanecarboxylic Acids ; Drug Administration Schedule ; gamma-Aminobutyric Acid ; Humans ; Hyperalgesia ; Neuralgia ; Outpatients

BACKGROUND/AIMS: Plasminogen activator inhibitor-1 (PAI-1) is important for tumor growth, Invasion, and metastasis. In this study, we investigated the relationship between plasma levels of PAI-1 and colorectal adenomas. METHODS: We reviewed the medical records of 3,136 subjects who underwent colonoscopy as a screening exam. The subjects were classified into a case group with adenomas (n=990) and a control group (n=2,146). Plasma PAI-1 levels were categorized into three groups based on tertile. RESULTS: The plasma levels of PAI-1 were significantly higher in adenoma cases than in controls (p=0.023). The prevalence of colorectal adenomas increased significantly with increasing levels of PAI-1 (p=0.038). In the adenoma group, advanced pathologic features, size, and number of adenomas did not differ among the three groups based on tertiles for plasma PAI-1 levels. Using multivariate analysis, we found that plasma level of PAI-1 was not associated with the risk of colorectal adenomas (p=0.675). Adjusted odds ratios for colorectal adenomas according to increasing plasma levels of PAI-1 were 0.980 (95% confidence interval [CI], 0.768 to 1.251) for the second-highest plasma level and 1.091 (95% CI, 0.898 to 1.326) for the highest level, compared with the lowest levels. CONCLUSIONS: These results suggest that elevated plasma PAI-1 levels are not associated with the risk of colorectal neoplasms.
Adenoma ; Colonoscopy ; Colorectal Neoplasms ; Mass Screening ; Medical Records ; Multivariate Analysis ; Neoplasm Metastasis ; Odds Ratio ; Plasma ; Plasminogen ; Plasminogen Activator Inhibitor 1 ; Plasminogen Activators ; Prevalence