Ritchierowe0003

Malignant gastrointestinal neuroectodermal tumors (GNETs), also called clear-cell sarcoma-like tumors of the gastrointestinal tract, are rare and highly aggressive tumors originating in the gastrointestinal tract. These tumors are generally immunohistochemically positive for S-100 protein (S-100) and SRY-related HMG-box 10 (SOX10), and often contain EWSR1-ATF1 or EWSR1-CREB1. The histological features of GNETs overlap with those of clear-cell sarcoma of the tendons and aponeuroses. However, GNETs immunohistochemically lack melanocyte-specific markers and often demonstrate positivity for CD56, synaptophysin and neuron-specific enolase. The present case reports a woman with a history of desmoplastic malignant melanoma exhibiting a BRAF mutation, which later transformed into a GNET of the small intestine with both a BRAF mutation and two subtypes of EWSR1-ATF1 fusion genes. Tumor cells were revealed to be weakly immunoreactive or negative for S-100 and SOX10, lacked markers of melanocytic differentiation and were focally positive for CD56. Combination therapy with dabrafenib mesylate and trametinib dimethyl sulfoxide proved to be temporarily effective against this tumor. The present case is relatively unique as, to the best of our knowledge, there is no case of GNET with a history of melanoma. Furthermore, there is no report of GNET exhibiting both a BRAF mutation and an EWSR1-ATF1 fusion gene. Further accumulation of similar cases is necessary to elucidate the pathological significance of this GNET having a BRAF mutation.Sarcoidosis is a multisystemic granulomatous disease. It is rarely isolated in the spleen. The present report describes a case of isolated splenic sarcoidosis that was diagnosed histologically following laparoscopic splenectomy. A 76-year-old woman, who underwent radical nephroureterectomy 7 years earlier for left renal pelvic cancer and mastectomy 6 years earlier for left breast cancer in another facility, was referred to our hospital for assessment of splenic tumors that were identified during a follow-up examination. The computed tomography scans revealed multiple nodules in the spleen, which had increased in size over 2 years. Olaparib mw Positron emission tomography revealed accumulation of [18F]-fluorodeoxyglucose in the spleen. Laparoscopic splenectomy was performed and the diagnosis of sarcoidosis was confirmed histologically. A review of previous reports and the present case suggested that diagnosis of splenic sarcoidosis should be considered when the CT scans show multinodular splenic tumors, and sarcoidosis might be associated with malignant tumors.In Japan, ~3 million individuals are estimated to be infected with hepatitis B virus (HBV) or hepatitis C virus (HCV). The rates of hepatitis virus infection amongst dentists is higher than that amongst other healthcare workers due to increased exposure to both saliva and blood. However, an efficient method for the testing of hepatitis virus infections amongst dentists remains to be established. The aim of the present study was to examine the rate of hepatitis virus infection amongst dental healthcare workers (DHWs) by introducing a health checkup that included screening for HBV and HCV infections. A total of 1,834 members of the Dental National Health Insurance Society in the Oita Prefecture, consisting of dentists and other employees, were tested for hepatitis B surface antigen (HBsAg), antibodies to HBsAg (anti-HBs) and antibodies to HCV (anti-HCV) during routine medical checkups. Anonymized data, including the age, sex, occupation (dentist or employee), and presence of a hepatitis virus marker, was collected and analyzed. The positive rates of HBsAg, anti-HBs and anti-HCV in the study sample were 0.6, 44.1 and 0.5%, respectively; the positive rates were higher amongst dentists than the employees. Furthermore, the positive rates of HBsAg and anti-HCV increased with age and were higher in subjects aged 50-79 (1.7-2.2%). The positive rate of presence of anti-HBs was significantly higher in the dentists compared with employees (56.4 vs. 39.6%; respectively; P less then 0.0001). The three factors associated with anti-HB positivity were HBsAg negativity, occupation (dentist) and age (20-29 years) with adjusted odds ratios of 8.29, 2.27 and 1.59, respectively (P less then 0.05). These results suggest that introducing a hepatitis virus examination during routine health checkups of DHWs may prove useful in identifying infected individuals.In Argentina, porphyria cutanea tarda (PCT) is strongly associated with infection with human immunodeficiency virus (HIV); however, whether the onset of this disease is associated with HIV infection and/or the antiretroviral therapy has not been determined. The ABCB1 gene variants c.1236C>T, c.2677G>T/A and c.3435C>T affect drug efflux. The GSTT1 null, GSTM1 null and GSTP1 (c.313A>G) gene variants alter Glutathione S-transferase (GST) activity, modifying the levels of xenobiotics. The aim of the present study was to evaluate the role of genetic variants in initiation of PCT and to analyze the genetic basis of the PCT-HIV association. Control individuals, and HIV, PCT and PCT-HIV patients were recruited, PCR-restriction fragment length polymorphism was used to genotype the ABCB1 and GSTP1 variants, and multiplex PCR was used to study the GSTM1 and GSTT1 variants. The high frequency of c.3435C>T (PCT and PCT-HIV) and c.1236C>T (PCT) suggested that the onset of PCT were not specifically related to HIV infection or antiretroviral therapy for these variants. c.2677G>T/A frequencies in the PCT-HIV patients were higher compared with the other groups, suggesting that a mechanism involving antiretroviral therapy served a role in this association. PCT-HIV patients also had a high frequency of GSTT1 null and low frequency for GSTM1 null variants; thus, the genetic basis for PCT onset may involve a combination between the absence of GSTT1 and the presence of GSTM1. In conclusion, genes encoding for proteins involved in the flow and metabolism of xenobiotics may influence the PCT-HIV association. The present study is the first to investigate the possible role of GST and ABCB1 gene variants in the triggering of PCT in HIV-infected individuals, to the best of our knowledge, and may provide novel insights into the molecular basis of the association between PCT and HIV.