Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient.

Renal cell carcinoma (RCC) is known to be more prevalent in autosomal dominant polycystic kidney disease (ADPKD) patients than in the general population. However, little is known about genetic alterations or changes in signaling pathways in RCC in patients with ADPKD.In the current report, whole-exome and transcriptome sequencing was performed for paired samples of tumor tissue, cyst tissue, and peripheral blood (triple set) from a patient diagnosed with ADPKD and RCC.A 68-year-old man with ADPKD underwent left partial nephrectomy and was diagnosed with RCC. DNA and RNA were extracted from the triple set of the patient. A nonsense mutation in PKD2 (p.Arg742X), which is well known as a pathogenic variant in ADPKD, was identified in the paired triple set. In the tumor sample, a somatic missense mutation of VHL (p.S65L) was found, which is known as a pathogenic mutation in Von Hippel-Lindau syndrome and RCC. Furthermore, loss of chromosome 3p, where VHL is located, was detected. Upregulated VEGFA was found in the analysis of RCC mRNA, which might be caused by the loss of VHL and accelerate angiogenesis in RCC.Proliferation was also expected to be activated by the MAPK signaling pathway, including NRAS and MAPK1 expression.

Liver Infarction and Venous Thromboembolism after Tamoxifen Use in an ADPKD Patient with Encapsulating Peritoneal Sclerosis: A Case Report.

Encapsulating peritoneal sclerosis (EPS) is a potentially fatal complication after long-term peritoneal dialysis, and tamoxifen can be used for its prevention and treatment. However, tamoxifen is known to increase the risk of venous thromboembolism. A 49-year-old woman was admitted with sudden abdominal pain. The patient had received peritoneal dialysis for 20 years and switched to hemodialysis after the diagnosis of EPS. Tamoxifen (10mg) and prednisolone (20mg) had been administered for 8 months. On computed tomography, the left hepatic lobe was hardly illuminated, leading to a diagnosis of liver infarction. A month later, she was re-admitted due to abdominal pain and extensive deep vein thrombosis of the leg. The administration of tamoxifen was stopped and prednisolone was reduced to 10mg. As her malnutrition progressed, she succumbed to death of gram negative sepsis. The patient was concluded to have liver infarction and extensive venous thrombosis as a side effect of tamoxifen.

Invasive pulmonary aspergillosis after influenza a infection in an immunocompetent patient.

Invasive aspergillosis has emerged as a major cause of life-threatening infections in immunocompromised patients. Recently, patients with chronic obstructive pulmonary disease, who have been receiving corticosteroids for a long period, and immunocompetent patients in the intensive care unit have been identified as nontraditional hosts at risk for invasive aspergillosis. Here, we report a case of invasive pulmonary aspergillosis after influenza in an immunocompetent patient. The patient's symptoms were nonspecific, and the patient was unresponsive to treatments for pulmonary bacterial infection. Bronchoscopy revealed mucosa hyperemia, and wide, raised and cream-colored plaques throughout the trachea and both the main bronchi. Histologic examination revealed aspergillosis. The patient recovered quickly when treated systemically with voriconazole, although the reported mortality rates for aspergillosis are extremely high. This study showed that invasive aspergillosis should be considered in immunocompetent patients who are unresponsive to antibiotic treatments; further, early extensive use of all available diagnostic tools, especially bronchoscopy, is mandatory.