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Purpose@#Targeted next-generation sequencing (NGS) is widely used for simultaneously detecting clinically informative genetic alterations in a single assay. Its application in clinical settings requires the validation of NGS gene panels. In this study, we aimed to validate a targeted hybridization capture-based DNA panel (ONCOaccuPanel) using the Illumina MiSeq sequencing platform. The panel allows the simultaneous detection of single-nucleotide variants (SNVs), insertions, deletions, and copy number changes of 323 genes and fusions of 17 genes in solid tumors. @*Materials and Methods@#We used 16 formalin-fixed paraffin-embedded (FFPE) tumor samples with previously known genetic mutations and one reference material (HD827) for validation. Moreover, we sequenced an additional 117 FFPE tumor samples to demonstrate the clinical utility of this panel. @*Results@#Validation revealed a 100% positive percentage agreement and positive predictive value for the detection of SNVs, insertions, deletions, copy number changes, fusion genes, and microsatellite instability–high types. We observed high levels of reproducibility and repeatability (R2 correlation coefficients=0.96-0.98). In the limit of detection assessment, we identified all clinically relevant genes with allele frequencies > 3%. Furthermore, the clinical application of ONCOaccuPanel using 117 FFPE samples demonstrated robust detection of oncogenic alterations. Oncogenic alterations and targetable genetic alterations were detected in 98.2% and 27.4% cases, respectively. @*Conclusion@#ONCOaccuPanel demonstrated high analytical sensitivity, reproducibility, and repeatability and is feasible for the detection of clinically relevant mutations in clinical settings.
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Purpose@#Assessing lymph node metastasis, tumor-derived DNA, or tumor-derived RNA has previously been studied in place of immunohistochemical assay. Because a direct reverse transcription loop-mediated isothermal amplification method (direct RT-LAMP) has been previously developed in order to rapidly identify viruses in place of RNA extraction, our team hypothesized that a direct RT-LAMP assay can be employed as a substitute in order to detect tumor involvement of lymph nodes within breast cancer patients. @*Materials and Methods@#A total amount of 92 lymph nodes removed across 40 patients possessing breast cancer were collected at Kyungpook National University Chilgok Hospital between the months of November 2015 and February 2016. All samples were then evaluated and contrasted via both a direct RT-LAMP assay and routine histopathologic examination. @*Results@#The sensitivity and specificity of the direct RT-LAMP assay were 85.7% and 100%, respectively. The positive predictive value and negative predictive value were 100% and 94.4%, respectively. @*Conclusion@#Direct RT-LAMP assay is capable of facilitating the detection of sentinel lymph node metastasis within breast cancer patients intraoperatively possessing an excellent sensitivity via a cost-effective and time-saving manner.
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Hyperechoic lesions of the breast encompass a wide range of conditions that are occasionally encountered during breast ultrasonography. Although typical hyperechoic lesions with a distinct fat component on imaging are well known, some hyperechoic lesions are diagnosed as unexpected pathology, making the radiology-pathology correlation difficult. Therefore, understanding the pathology of these lesions and how it correlates with imaging findings can help radiologists accurately diagnose and properly manage a range of related conditions. This article presents a pictorial review of unexpected hyperechoic benign and malignant breast lesions, with a focus on the pathological conditions that give rise to the hyperechoic pattern.
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Given the recent advances in management and understanding of breast cancer, a standardized pathology report reflecting these changes is critical. To meet this need, the Breast Pathology Study Group of the Korean Society of Pathologists has developed a standardized pathology reporting format for breast cancer, consisting of ‘standard data elements,’ ‘conditional data elements,’ and a biomarker report form. The ‘standard data elements’ consist of the basic pathologic features used for prognostication, while other factors related to prognosis or diagnosis are described in the ‘conditional data elements.’ In addition to standard data elements, all recommended issues are also presented. We expect that this standardized pathology report for breast cancer will improve diagnostic concordance and communication between pathologists and clinicians, as well as between pathologists inter-institutionally.
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Given the recent advances in management and understanding of breast cancer, a standardized pathology report reflecting these changes is critical. To meet this need, the Breast Pathology Study Group of the Korean Society of Pathologists has developed a standardized pathology reporting format for breast cancer, consisting of ‘standard data elements,’ ‘conditional data elements,’ and a biomarker report form. The ‘standard data elements’ consist of the basic pathologic features used for prognostication, while other factors related to prognosis or diagnosis are described in the ‘conditional data elements.’ In addition to standard data elements, all recommended issues are also presented. We expect that this standardized pathology report for breast cancer will improve diagnostic concordance and communication between pathologists and clinicians, as well as between pathologists inter-institutionally.
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Given the recent advances in management and understanding of breast cancer, a standardized pathology report reflecting these changes is critical. To meet this need, the Breast Pathology Study Group of the Korean Society of Pathologists has developed a standardized pathology reporting format for breast cancer, consisting of ‘standard data elements,’ ‘conditional data elements,’ and a biomarker report form. The ‘standard data elements’ consist of the basic pathologic features used for prognostication, while other factors related to prognosis or diagnosis are described in the ‘conditional data elements.’ In addition to standard data elements, all recommended issues are also presented. We expect that this standardized pathology report for breast cancer will improve diagnostic concordance and communication between pathologists and clinicians, as well as between pathologists inter-institutionally.
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Purpose@#In patients with locally advanced breast cancer, neoadjuvant chemotherapy is widely used. It has a distinct advantage in the downstaging of the primary tumor and provides important information about treatment response. With its increasing usage, concerns over the appropriate management of the axilla have emerged. In this study, we compared oncological outcomes of conventional axillary lymph node dissection (ALND) over axillary sampling (AS) with radiotherapy (RT) in patients who received neoadjuvant chemotherapy. @*Methods@#In this retrospective study, we included female patients with triple negative breast cancer (TNBC) and HER2 type breast cancer who underwent breast and axillary surgery after neoadjuvant chemotherapy between May 2011 to December 2016. A total of 89 patients’ medical records were eligible for analysis. We defined AS as removal of at least four axillary lymph nodes located near the sentinel lymph nodes without full exposure of the axillary vein, long thoracic nerve, and thoracodorsal nerve. @*Results@#The median follow-up period was 47.00 months. The disease-free survival was 69.66 months in the AS with RT group and 69.02 months in the ALND group (p=0.280). The invasive disease-free survival was 75.16 months in the AS with RT group and 78.44 months in the ALND group (p=0.218). @*Conclusion@#AS with radiotherapy might be a feasible surgical option in patients with TNBC and HER2 type breast cancer after neoadjuvant chemotherapy.
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Ectopic male breast cancer is very rare. Consequently, there is a lack of prospective clinical trials, and most recommendations for treatment are based on the experiences of clinicians and data from female breast cancer patients. The United States Food and Drug Administration has recently approved palbociclib combined with endocrine therapy for advanced male breast cancer because of the positive results of its use in metastatic female breast cancer. Therefore, it is worth considering cyclin-dependent kinase 4/6 inhibitors as alternatives to conventional chemotherapies for advanced male breast cancer patients with hormone receptor-positive and human epidermal growth factor receptor 2-negative cancers. The present case report introduces the use of palbociclib plus letrozole as first-line therapy for an elderly male patient with relapsed ectopic breast cancer, notwithstanding the limitations of the current national health insurance policy.
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Purpose@#In patients with locally advanced breast cancer, neoadjuvant chemotherapy is widely used. It has a distinct advantage in the downstaging of the primary tumor and provides important information about treatment response. With its increasing usage, concerns over the appropriate management of the axilla have emerged. In this study, we compared oncological outcomes of conventional axillary lymph node dissection (ALND) over axillary sampling (AS) with radiotherapy (RT) in patients who received neoadjuvant chemotherapy. @*Methods@#In this retrospective study, we included female patients with triple negative breast cancer (TNBC) and HER2 type breast cancer who underwent breast and axillary surgery after neoadjuvant chemotherapy between May 2011 to December 2016. A total of 89 patients’ medical records were eligible for analysis. We defined AS as removal of at least four axillary lymph nodes located near the sentinel lymph nodes without full exposure of the axillary vein, long thoracic nerve, and thoracodorsal nerve. @*Results@#The median follow-up period was 47.00 months. The disease-free survival was 69.66 months in the AS with RT group and 69.02 months in the ALND group (p=0.280). The invasive disease-free survival was 75.16 months in the AS with RT group and 78.44 months in the ALND group (p=0.218). @*Conclusion@#AS with radiotherapy might be a feasible surgical option in patients with TNBC and HER2 type breast cancer after neoadjuvant chemotherapy.
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Ectopic male breast cancer is very rare. Consequently, there is a lack of prospective clinical trials, and most recommendations for treatment are based on the experiences of clinicians and data from female breast cancer patients. The United States Food and Drug Administration has recently approved palbociclib combined with endocrine therapy for advanced male breast cancer because of the positive results of its use in metastatic female breast cancer. Therefore, it is worth considering cyclin-dependent kinase 4/6 inhibitors as alternatives to conventional chemotherapies for advanced male breast cancer patients with hormone receptor-positive and human epidermal growth factor receptor 2-negative cancers. The present case report introduces the use of palbociclib plus letrozole as first-line therapy for an elderly male patient with relapsed ectopic breast cancer, notwithstanding the limitations of the current national health insurance policy.
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The sphingolipid rheostat concept states that the cellular fate is largely determined by various sphingolipid metabolites and the associated signaling pathways. Aberrant regulation of the sphingolipid metabolism-related components is closely associated with cancer survival and death, including aspects like cancer development, proliferation, progression, and response to anticancer drugs. In the present study, we investigated the expression and prognostic significance of the sphingolipid metabolism-related genes in clear cell renal cell carcinoma (ccRCC), the most common pathological subtype of kidney cancer, using an RNA-sequencing dataset of The Cancer Genome Atlas Kidney Clear Cell Carcinoma (TCGA KIRC) cohort. Expression levels of various sphingolipid metabolism-related genes were significantly altered in ccRCC tissues compared with those of normal solid tissues. Notably, the expression of B4GALNT1, BNIP3, DEGS1, GAL3ST1, S1PR4, SLC26A10, SMPDL3A, and SPHK1 was significantly upregulated, whereas the expression of B4GALT6, HPGD, LPAR1, SFTPB, ST6GALNAC5, and UGT8 was significantly downregulated in ccRCC tissues. Notably, among these significantly-altered sphingolipid metabolism-related genes, the Kaplan-Meier survival analyses showed that high expression levels of B4GALNT1, SLC26A10, and SPHK1 were associated with a poor prognosis of patients with ccRCC, whereas high expression levels of BNIP3, HPGD, and SMPDL3A were associated with a better prognosis. Taken together, our study suggests that B4GALNT1, SLC26A10, SPHK1, BNIP3, HPGD, and SMPDL3A may be novel prognostic biomarkers and targets for a therapeutic strategy to improve the treatment of ccRCC.
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OBJECTIVES: The purpose of this study was to identify the risk factors of metabolic syndrome (MS) and to analyze the relationship between the risk factors of MS and medical cost of major diseases related to MS in Korean workers, according to the scale of the enterprise. METHODS: Data was obtained from annual physical examinations, health insurance qualification and premiums, and health insurance benefits of 4,094,217 male and female workers who underwent medical examinations provided by the National Health Insurance Corporation in 2009. Logistic regression analyses were used to the identify risk factors of MS and multiple regression was used to find factors associated with medical expenditures due to major diseases related to MS. RESULT: The study found that low-income workers were more likely to work in small-scale enterprises. The prevalence rate of MS in males and females, respectively, was 17.2% and 9.4% in small-scale enterprises, 15.9% and 8.9% in medium-scale enterprises, and 15.9% and 5.5% in large-scale enterprises. The risks of MS increased with age, lower income status, and smoking in small-scale enterprise workers. The medical costs increased in workers with old age and past smoking history. There was also a gender difference in the pattern of medical expenditures related to MS. CONCLUSIONS: Health promotion programs to manage metabolic syndrome should be developed to focus on workers who smoke, drink, and do little exercise in small scale enterprises.
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Femenino , Humanos , Masculino , Gastos en Salud , Promoción de la Salud , Seguro de Salud , Corea (Geográfico) , Modelos Logísticos , Programas Nacionales de Salud , Examen Físico , Prevalencia , Factores de Riesgo , Humo , FumarRESUMEN
The purpose of this study was to provide fundamental data for health promotion and improvement of the dietary life in students who receive school lunch support (SLS) by comparative analysis of food service satisfaction, dietary habits, and nutrition intakes according to SLS. The subjects of this study consisted of 258 boys and 233 girls at a middle school in Incheon. The students' average age was 14.9 years, average height was 161.3 cm, and average weight was 52.0 kg. The breakfast eating frequency of the No-SLS (NSLS) group was significantly greater than that of the SLS group (P<0.05). The time spent for eating breakfast in the SLS group was significantly shorter than that of the NSLS group for boys. There was no significant difference in dietary attitudes according to SLS. For satisfaction of the quantity and diversity of the school lunch menu in girls, the SLS group had higher satisfaction than the NSLS group. The daily energy intake of the SLS group was significantly lower than that of the NSLS group in both boys and girls. The majority of daily nutrients intakes in the SLS group were also significantly lower than those in the NSLS group. In summary, the female students in the SLS group were more satisfied with school lunch service than general students. However, SLS students less frequently ate breakfast and showed lower energy and nutrient intakes. Therefore, in order to improve the nutritional status and dietary life of students who receive school lunch support, consistent nutrition management and support in schools are required.
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Adolescente , Femenino , Humanos , Desayuno , Ingestión de Alimentos , Ingestión de Energía , Conducta Alimentaria , Servicios de Alimentación , Promoción de la Salud , Almuerzo , Comidas , Estado NutricionalRESUMEN
BACKGROUND: Various kinds of disease can cause chronic diffuse hair loss in females such as female pattern hair loss and chronic telogen effluvium etc, but differential diagnosis between these diseases are so sophisticated that an easy and feasible diagnostic approach to chronic female diffuse alopecia has not yet been established. OBJECTIVE: The purpose of this study is to differentiate chronic female diffuse alopecia through several clinical and laboratory methods, which, can be tried easily in a short time with little doctor and assistants input in the ordinary dermatologic outpatient clinic. METHODS: We examined 187 female patients with a chief complaint of chronic diffuse hair loss and/or decreased hair density for more than 6 months. History taking, detailed patient's questionnaire, physical examination including hair pull test and hormonal test or skin biopsy were performed. RESULTS: Common age of onset was 20~29 years (62 cases, 33.1%) and below 19 years old (41 cases, 21.9%). A family history of similar alopecia including female pattern hair loss was seen in 50% (91 cases) and the father was the most common relative (61 cases). Crash diet restriction for weight reduction was the most common aggravating factor (14 cases, 16.1%) of hair loss and seborrheic dermatitis was the most common associated disease (24 cases, 12.8%). The serum ferritin level was lower than normal in 61 cases (40.7%) and serum copper and zinc were decreased in 22 cases (14.7%) respectively. The result of presumptive diagnosis by our checklists were as follows: female pattern hair loss (149 cases, 83.2%), diffuse alopecia areata (13 cases, 7.3%), chronic telogen effluvium (6 cases, 3.4%), and polycystic ovarian syndrome (3 cases, 1.7%). CONCLUSION: Female pattern hair loss might be the most common disease in chronic diffuse alopecia in females and a decrease of the serum ferritin level was most frequently observed. Further study about diagnostic methods such as transverse section of skin biopsy and phototrichogram will be needed for a more accurate final diagnosis.
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Femenino , Humanos , Adulto Joven , Edad de Inicio , Alopecia Areata , Alopecia , Instituciones de Atención Ambulatoria , Biopsia , Lista de Verificación , Cobre , Dermatitis Seborreica , Diagnóstico , Diagnóstico Diferencial , Dieta , Padre , Ferritinas , Cabello , Pacientes Ambulatorios , Examen Físico , Síndrome del Ovario Poliquístico , Piel , Pérdida de Peso , Zinc , Encuestas y CuestionariosRESUMEN
Nontraumatic spinal epidural hematoma (SEH) is a rare condition and the exact cause of the hemorrhage in SEH has never been established. However, there have been a few recent reports on some types of the epidural hematoma with a detectable origin of hemorrhage. We encountered a case of chronic SEH in a patient who had spondylolytic spondylolisthesis, which is also a rare condition to be associated with SEH. We report here on the radiologic findings of a case of chronic epidural hematoma in a patient who had spondylolytic spondylolisthesis at the L4-5 level, and we include a review of the related literatures.
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Humanos , Hematoma , Hematoma Espinal Epidural , Hemorragia , Médula Espinal , Espondilolistesis , EspondilólisisRESUMEN
PURPOSE: We wanted to analyze the radiological changes of the patients who underwent percutaneous endoscopic lumbar discectomy (PELD) for treating soft disc herniation. MATERIALS AND METHODS: We retrospectively reviewed 30 patients (32 cases) who were observed for a minimum of 3 years after they underwent PELD. The authors investigated the postoperative radiological changes after PELD and the related clinical outcomes. All the patients received plain X-rays, CT and MRI both preoperatively and at the final follow-up. The radiological parameters were evaluated, including the disc height, the disc signal intensity, the subchondral marrow signal intensity, the sagittal plane instability and the facet joint osteoarthritis. RESULTS: The average amount of removed disc was 1.363 g and a significant correlation was detected between the narrowing of disc height and the amount of removed disc. Although the disc height and the disc height ratio were significantly decreased (-0.97 mm and 86.9%, respectively), the angle of sagittal rotation was well maintained. There were 18 (56.3%) cases of disc signal changes, six cases (18.8%) of subchondral marrow signal changes, and three cases (9.4%) of facet joint osteoarthritis. The success rate was 90.6%. CONCLUSION: Although disc height narrowing was observed, there was no postoperative instability and the overall clinical outcome was satisfactory. Our results show that PELD is a useful and minimal invasive procedure for the selected patients who are suffering with lumbar disc herniation.
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Humanos , Médula Ósea , Discectomía , Estudios de Seguimiento , Imagen por Resonancia Magnética , Osteoartritis , Estudios Retrospectivos , Articulación CigapofisariaRESUMEN
PURPOSE: The aim of this study was to evaluate the diagnostic value of the MR Imaging findings with provoked discography used as the standard for painful lumbar disc derangement. MATERIALS AND METHODS: Two hundred patients (412 discs), (age range: 21-77 years), with chronic low back pain underwent MRI and provoked discography. We evaluated the MRI T2-WI findings such as disc degeneration, high-Intensity zones and endplate abnormalities. Subsequently, provocative discography was independently performed with using MR imaging, and a painful disc was defined when moderate to severe and concordant pain was provoked. We calculated the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the MRI findings with using provoked discography as the standard. RESULTS: 400 discs showed abnormal findings such as disc degeneration, HIZ and endplate abnormalities on the T2-WI images. 12 discs showed normal findings. HIZ or endplate abnormalities were always combined with disc degeneration. The prevalence of each findings were disc degeneration (400 discs: 97.1%), HIZ (111 discs: 26.9%), type I endplate abnormalities (34 discs: 8.3%), type II endplate abnormalities (75 discs: 18.2%), the combined findings of HIZ and type I endplate abnormalities (2 discs: 0.5%) and the combined findings of HIZ and type II endplate abnormalities (7 discs: 1.7%). The disc degeneration showed high sensitivity (99.5%) and low specificity (5.0%), so only the NPV (91.7%) was significant, and not the PPV (47.8%). Each findings of HIZ (sensitivity, 36.5%; specificity, 81.4%; PPV, 63.18%; NPV, 59.5%), type I endplate abnormalities (11.0%, 94.1%, 61.8% and 54.8%, respectively), type II endplate abnormalities (19.8%, 83.2%, 50.7% and 54.3%, respectively), the combined findings of HIZ and type I endplate abnormalities (0.5%, 99.6%, 50.0% and 53.4%, respectively) and the combined findings of HIZ and type II endplate abnormalities (26.0%, 99.1%, 71.4% and 53.8%, respectively) show high specificity, but low sensitivity, so the PPV and NPV were also not significant. CONCLUSION: For diagnosing painful lumbar disc derangement, the MR imaging findings seem to be inadequate as predictive factors when provoked discography was used as the standard.
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Humanos , Degeneración del Disco Intervertebral , Dolor de la Región Lumbar , Imagen por Resonancia Magnética , Prevalencia , Sensibilidad y EspecificidadRESUMEN
Symptomatic spinal epidural gas-containing cystic lesion is a rare clinical disease entity. We recently experienced two cases of symptomatic epidural gas-containing cysts that were the main cause of the patients?radiculopathy and the cysts were removed surgically. These lesions were actually gas containing ruptured disc herniations from the vacuum discs at the same level. We report herein on the radiological findings along with conducting a review of the related literature.
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Columna Vertebral , VacioRESUMEN
Capillary hemangioma of the cauda equina is extremely rare. We present the MR imaging and histologic findings of a case of this disease. The tumor was well demarcated, 0.9x1.3 cm in diameter and 1.2 cm in length. On the MR images, the tumor showed isointensity relative to the spinal cord on the T1-weighted images, hyperintensity on the T2-weighted images, and strong homogeneous enhancement on the contrast-enhanced T1-weighted images. Capillary hemangioma should be included in the differential diagnosis of a spinal tumor of the cauda equina.
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Capilares , Cauda Equina , Diagnóstico Diferencial , Hemangioma Capilar , Imagen por Resonancia Magnética , Médula EspinalRESUMEN
This study aimed to evaluate current clinical assessments and management of obesity in the primary care setting in Korea since anti-obesity agents have become available. A questionnaire was sent to eligible primary care physicians selected from a national probability sample in two specialties: family physicians and internists. Of 939 randomly selected physicians, 452 (48.1%) replied. We found that 51.8% of physicians were aware of the definition of obesity, and 33.8% were aware of the definition of abdominal obesity proposed by Asia-Pacific guideline. When evaluating apparently obese patients, 50.0% of respondents measured body mass index (BMI) and 20.4% measured waist circumference. Fewer than 50% of physicians measured blood glucose or lipid profiles, both of which are risk factors for obesity. About 47.3% of physicians prescribed an anti-obesity medication without allowing sufficient time for nonpharmacologic therapy to take effect, and 68.8% of physicians prescribed anti-obesity medications to patients that requested them regardless of obesity status. The majority of respondents did not appropriately evaluate obesity and its risk factors, and were readily susceptible to prescribing anti-obesity medications. Our findings suggest that primary care physicians in Korea need additional education on obesity and its management.