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

PURPOSE: There are numerous prostate cancer-related genes that involve in carcinogenesis and tumor progression. Among the genes, DNA mismatch repair genes recognize and repair misincorporated nucleotides during DNA replication. In this analysis, we evaluated the association of hMSH2 which is one of the mismatch repair genes, with risk of aggressive prostate cancer and prostate cancer recurrence. MATERIALS AND METHODS: Immunohistochemistry was performed in 46 patients who diagnosed prostate cancer and underwent radical prostatectomy between January 2006 and December 2012 at Kyung Hee University Hospital at Gangdong. We evaluated an association between the degree of hMSH2 immunohistochemical staining and various clinical variables including prostate-specific antigen (PSA), Gleason score, pathological stage, and biochemical recurrence. The intensity of immunostaining for hMSH2 was divided into 2 groups: low expression group (immunostaining score < 2) and high expression group (immunostaining score ≥2). RESULTS: Although seminal vesicle invasion was marginally associated with the degree of hMSH2 immunohistochemical staining, PSA, Gleason score, lymph node metastasis, presence of lymphatic, perineural, vascular invasion, and extracapsular extension were not associated with the degree of hMSH2 immunohistochemical staining. Furthermore, the association of biochemical recurrence free survival with hMSH2 expression was not statistically significant. CONCLUSIONS: The hMSH2 expression was marginally associated with risk of aggressive prostate cancer such as seminal vesicle invasion. Further evaluation with a larger number of cases is needed to verify these results.
Base Pair Mismatch ; Carcinogenesis ; DNA Mismatch Repair ; DNA Repair ; DNA Replication ; Gene Expression ; Humans ; Immunohistochemistry ; Lymph Nodes ; Neoplasm Grading ; Neoplasm Metastasis ; Nucleotides ; Prostate ; Prostate-Specific Antigen ; Prostatectomy ; Prostatic Neoplasms ; Recurrence ; Seminal Vesicles

PURPOSE: A multi-subunit transcription factor NF-κB is associated with anti-apoptotic signals in several cancers including renal cell carcinoma (RCC). In this study, we investigated whether the expression levels of the NF-κB were related to the clinical properties of human renal cell carcinoma such as nuclear grade, TNM stage, and recurrence free survival. MATERIALS AND METHODS: Patients who were diagnosed with clear cell RCC between January 2006 and February 2013 were included. Clinicopathological data and survival were investigated. The expressions of NF-κB were investigated by performing immunohistochemical staining on 61 clear cell RCC. The expression levels of NF-κB were divided two groups by the expression levels. RESULTS: Results on the expression of NF-κB were not significant. Analysis of NF-κB expressions is not associated with any of the clinical properties including age, nuclear grade and TNM stage (p=0.613, p=0.059, p=0.107, p=0.570, and p=0.760, respectively). Also, a statistically correlation was not observed between recurrence free survival and NF-κB expression levels (p=0.573). CONCLUSIONS: The expressions of the NF-κB were not associated with the clinical properties of clear cell RCC such as age, nuclear grade, TNM stage, and recurrence free survival.
Carcinoma, Renal Cell* ; Humans ; Immunohistochemistry ; Prognosis ; Recurrence ; Transcription Factors

PURPOSE: The aim of our study was to evaluate the association of several factors with spontaneous stone expulsion, including ureteral stone characteristics (size, location, hydronephrosis, perinephric stranding), types of medications prescribed (alpha-blocker, low-dose steroid), and other possible demographic and health-history factors (gender, age, serum creatinine, underlying diabetes mellitus [DM], and hypertension). MATERIALS AND METHODS: A total of 366 patients with ureteral stones were enrolled. All patients underwent watchful waiting without any invasive procedures. Initial diagnoses of ureteral stones were confirmed by computed tomography scans, which were taken at approximately 1-month intervals to check for stone expulsion. Univariate and multivariate analyses were conducted to identify significant factors that contributed to stone expulsion. RESULTS: Among 366 patients, 335 patients (91.5%) experienced spontaneous stone passage during a mean follow-up period of 2.95+/-2.62 weeks. The patients were divided into two groups depending on the success of spontaneous stone passage. Univariate analyses revealed that stone location (p=0.003), stone size (p=0.021), and underlying DM (p<0.001) were significant predictors of stone passage. Multivariate analyses confirmed that stone size (p=0.010), stone location (p=0.008), and underlying DM (p=0.003) were independent predictive factors affecting stone passage. CONCLUSIONS: Stone size, location, and underlying DM were confirmed to be significant predictive factors for spontaneous passage of ureteral stones. Urologists should consider active procedures, such as shock wave lithotripsy or ureteroscopy, rather than conservative management in patients presenting with proximally located stones, large ureteral stones, or underlying DM.
Adult ; Aged ; Diabetes Complications/*therapy ; Female ; Humans ; Male ; Middle Aged ; Prognosis ; Remission, Spontaneous ; Retrospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome ; Ureteral Calculi/pathology/radiography/*therapy ; *Watchful Waiting

Testicular torsion is a surgical emergency in the field of urology. Knowledge of the epidemiology and pathophysiology is significant to an urologist. However, the epidemiology of testicular torsion in Korea has not been studied. We performed a nationwide epidemiological study to improve knowledge of the epidemiology of testicular torsion. From 2006-2011, the Korean Urologic Association began the patient registry service. The annual number of patients with testicular torsion from 2006 to 2011 were 225, 250, 271, 277, 345, and 210, respectively. The overall incidence of testicular torsion in males was 1.1 per 100,000; However, the incidence in men less than 25 yr old was 2.9 per 100,000. Adolescents showed the highest incidence. Total testicular salvage rate was 75.7% in this survey. There was no geographic difference of testicular salvage rate. Minimizing the possibility of orchiectomy for testicular torsion is important to improve public awareness to expedite presentation and provider education to improve diagnosis and surgery.
Adolescent ; Age Distribution ; Child ; Child, Preschool ; Humans ; Incidence ; Infant ; Infant, Newborn ; Korea/epidemiology ; Male ; Orchiectomy/*statistics & numerical data ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Factors ; Spermatic Cord Torsion/diagnosis/*epidemiology/*surgery ; Treatment Outcome ; Young Adult

PURPOSE: Ureteroscopic stone removal is frequently used to remove ureteral stones. Mucosal edema and bleeding are the two most important obstacles to a successful operation. This study analyzed relationships between unenhanced computed tomography (UECT) findings and ureteroscopic findings to determine whether ureteroscopic results could be predicted preoperatively by using UECT imaging. MATERIALS AND METHODS: From January 2009 to July 2011, 675 patients were diagnosed with ureteral stones through UECT. Among them, we retrospectively reviewed 92 cases of patients who underwent ureteroscopy (URS). We identified findings such as hydronephrosis, rim sign, periureteral fat stranding, and perinephric fat stranding on the UECT and then categorized these findings into four categories (none, mild, moderate, and severe) according to their severity. We also divided the URS findings of mucosal edema and bleeding into four categories (none, mild, moderate, and severe) and compared these findings with the UECT images. RESULTS: A total of 92 study patients were included in this study: 59 were male and 33 were female patients. According to the location of the stone, 31 cases were classified as upper ureteral stones, 15 were midureteral stones, and 46 were lower ureteral stones. Hydronephrosis identified with UECT was correlated with the mucosal edema severity observed during URS (p=0.004). The rim signs identified with UECT were proportional to the grade of mucosal edema (p=0.010). CONCLUSIONS: Hydronephrosis and rim signs observed during UECT can be used as a predictive factor for intraoperative mucosal edema in patients undergoing URS.
Edema ; Female ; Hemorrhage ; Humans ; Hydronephrosis ; Lithotripsy* ; Male ; Retrospective Studies ; Tomography, X-Ray Computed ; Ureter ; Ureteral Calculi ; Ureteroscopy

Immunoglobulin (Ig) G4-related sclerosing disease is a newly defined clinicopathological entity characterized by lymphoplasmacytic infiltration of IgG4-positive plasma cells and varying degrees of fibrosis within affected tissues. Patients usually exhibit multisystem involvement and often respond well to steroid and immunosuppressive therapy. This report presents a case of IgG4-related sclerosing disease involving the ureter and kidney. We hope to bring IgG4-related sclerosing disease to the attention of urologists, because it is an uncommon disease that commonly responds to systemic corticosteroids.
Adrenal Cortex Hormones ; Fibrosis ; Humans ; Immunoglobulin G ; Immunoglobulins ; Kidney ; Plasma Cells ; Sclerosis ; Ureter

Perforation of the ureter is a rare condition that causes a series of problems including retroperitoneal urinoma, urosepsis, abscess formation, infection, and subsequent renal impairment. There are causative factors that induce ureteric rupture, including malignancy, urinary calculi, idiopathic retroperitoneal fibrosis, recent iatrogenic manipulation, external trauma, degenerative kidney conditions, urography with external compression, and spontaneous causes. We report a rare case of ureteric rupture caused by urinary retention. The patient was treated with temporary percutaneous drainage and antibiotics. The present case illustrates that urinary retention can induce not only bladder rupture, but also ureteric rupture. It is thus of paramount importance to effectively manage patients with voiding problems.
Abscess ; Anti-Bacterial Agents ; Drainage ; Humans ; Kidney ; Retroperitoneal Fibrosis ; Rupture ; Ureter ; Urinary Bladder ; Urinary Calculi ; Urinary Retention ; Urinoma ; Urography

OBJECTIVE: There was a recent study to explore the cerebral regions associated with sexual arousal in depressed women using functional magnetic resonance imaging (fMRI). The purpose of this neuroimaging study was to investigate the effects of antidepressant treatment on sexual arousal in depressed women. METHODS: Seven depressed women with sexual arousal dysfunction (mean age: 41.7+/-13.8, mean scores of the Beck Depression Inventory (BDI) and the 17-item Hamilton Rating Scale for Depression (HAMD-17): 35.6+/-7.1 and 34.9+/-3.1, respectively) and nine healthy women (mean age: 40.3+/-11.6) underwent fMRI before and after antidepressant treatment. The fMRI paradigm contrasted a 1 minute rest period viewing non-erotic film with 4 minutes of sexual stimulation viewing an erotic video film. Data were analyzed by SPM 2. The relative number of pixels activated in each period was used as an index of activation. All depressed women were treated with mirtazapine (mean dosage: 37.5 mg/day) for 8 to 10 weeks. RESULTS: Levels of brain activity during sexual arousal in depressed women significantly increased with antidepressant treatment (p<0.05) in the regions of the hypothalamus (3.0% to 11.2%), septal area (8.6% to 27.8%) and parahippocampal gyrus (5.8% to 14.6%). Self-reported sexual arousal during visual sexual stimulation also significantly increased post-treatment, and severity of depressive symptoms improved, as measured by the BDI and HAMD-17 (p<0.05). CONCLUSION: These results show that sexual arousal dysfunction of depressed women may improve after treatment of depression, and that this improvement is associated with increased activation of the hypothalamus, septal area, and parahippocampal gyrus during sexual arousal.
Arousal ; Brain ; Depression ; Female ; Humans ; Hypothalamus ; Magnetic Resonance Imaging ; Mianserin ; Neuroimaging ; Parahippocampal Gyrus ; Septum of Brain

BACKGROUND: Manual slide review (MSR) is usually triggered by the results of automated hematolgy analyzers, but each laboaratory has different ciriteria for MSR. This study was carried out to investigate the current status of MSR criteria of automated complete blood cell count (CBC) and white blood cell (WBC) differential results and to propose a basic guideline for MSR. METHODS: Total 111 laboratories were surveyed regarding MSR using questionnaires. The questionnaire asked: kinds of automated hematology analyzers used and the presence of criteria triggering MSR in seven categories: 1) CBC results, 2) 5 differential WBC counts, 3) 3 differential WBC counts, 4) automated reticulocyte counts, 5) delta check, 6) instrument flags (or messages), 7) clinical information (wards or diseases). Based on the survey results, we determined basic and extended criteria for MSR. With these criteria, we consulted nine hematology experts to get a consensus. RESULTS: All 111 laboratories had their own MSR criteria. Among 111 laboratories, 98 (88.3%) used more than three criteria for MSR including CBC results and 5-part WBC differential count results and 95 (85.6%) had criteria of flags triggering MSR. For MSR criteria with numeric values, the 10th, 50th, and 90th percentiles of upper and lower threshold values were obtained. The basic guideline for MSR was made. CONCLUSIONS: We proposed a basic guideline for MSR. This guideline would be helpful to hematology laboratories for their daily operation and providing more rapid and accurate CBC and WBC differential results.
Automation ; Blood Cell Count/instrumentation/*methods/standards ; Humans ; Laboratories, Hospital ; Leukocyte Count/instrumentation/*methods/standards ; Quality Control ; Questionnaires