Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation

AbstractHereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253 –260, 2014). HLRCC is caused by germline mutations in theFH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. InFH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to be responsible for the malignant transformation (Yang et al., J Clin Invest 123(9):3652 –3658, 2013) (Bardella et al., J Pathol 225(1):4–11, 2011). Among these events, one that is gaining attention is the pathological activation of the nuclear factor erythroid 2-related factor 2 (NRF2) pathway, which has been found in several types of cancer and is implicated in the expression of genes associated with antioxidant responses (Linehan and Rouault, Clin Cancer Res 19(13):3345 –3352, 2013). In this article, we present the results of a gene expression analysis performed on peripheral blood cells from patients with HLRCC syndrome, where upregulation of numerousNRF2 targets and the differential expression of two key genes, Jun dimerization protein 2 (JDP2) and Phosphoglycerate mutase family member 5 (PGAM5), which are involved in the control of thi...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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Dr John Baillie, Professor Emeritus at Virginia Commonwealth University (VCU) Health System, passed away peacefully on October 29, 2018, after a battle with brain cancer. He was at his home in Durham, North Carolina, surrounded by his wife, Alison, their children, Katie and Chris, and their dogs, Lucy and Dougal. And he wouldn't have wanted it any other way!
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: In memoriam Source Type: research
Duodenal carcinoma is a rare manifestation of familial adenomatous polyposis (FAP). A lifetime cumulative incidence of duodenal cancer of around 4.5% (95% confidence interval, 0.1%-8.9%) was reported by the age of 57 years in the period of 1990 to 2001.1 In the meantime, however, the improved treatment of patients with FAP in general has resulted in longer life expectancy.2 Therefore, the natural course of the disease progresses further, and patients experience more-advanced stages of duodenal polyposis.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Original article Source Type: research
We thank Drs Yang, Ma, and Li for their insightful comments1 on our review article regarding screening advances in esophageal squamous cell carcinoma.2 We agree that minimally invasive methods currently in development for the detection and surveillance of Barrett ’s esophagus (BE)3 can likely improve the yield of screening and evaluating for squamous cell carcinoma.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research
We read with great interest the article by Codipilly et  al,1 which reviewed recent advances in screening for esophageal squamous cell carcinoma (ESCC) and its precursor, including endoscopic and nonendoscopic modalities. Mass endoscopic screening would present a cost-effective challenge and is not tenable in most high-incidence regions except in a few ultra–high-prevalence areas.2,3 Esophageal balloon cytology screening was once widely used in China but is no longer recommended because of its low accuracy in asymptomatic individuals.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research
Recently, Faraz et  al1 reported that multifocal diseases and peritoneal carcinomatosis were risk factors in the technical and clinical success of stent placement in extracolonic malignant large-bowel obstruction. We would like to raise several concerns about the role of colonic stents in relieving intestinal obstruc tion.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research
This article presents a case study of one patient treated with a porcine urinary bladder matrix and negative-pressure wound therapy; this treatment combination provided pain relief, coverage of the wound, an acceptable aesthetic outcome, and long-term stability.
Source: Advances in Skin and Wound Care - Category: Dermatology Tags: FEATURES: CASE REPORT Source Type: research
Authors: Bang CS, Baik GH Abstract Endoscopic submucosal dissection (ESD) is a standard treatment for patients with gastrointestinal neoplasms with a negligible risk of lymph node metastasis. ESD enables en bloc resection of gastrointestinal neoplasms and organ preservation, thereby, avoiding surgical treatment. Although small (
Source: Clinical Endoscopy - Category: Gastroenterology Tags: Clin Endosc Source Type: research
Authors: Mishra J, Joshi A, Rajput R, Singh K, Bansal A, Misra K Abstract Ganoderma lucidum (G. lucidum) fungus (Family Ganodermataceae) is widely used as a traditional medicine in China, Japan, and many Asian countries on account of its numerous medicinal properties such as antioxidant, anticancer, antimicrobial, energy enhancing, and immunostimulatory. This broad spectrum of therapeutic effects exhibited by G. lucidum is ascribed to its abundance in several classes of chemical constituents, namely, carbohydrates, flavonoids, minerals, phenolics, proteins, and steroids which possess substantial bioactivities. The ...
Source: Advances in Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Adv Pharmacol Sci Source Type: research
Authors: Dousset L, Boniface K, Seneschal J Abstract Antibody-based therapeutics targeting programmed cell death 1 (PD-1) have shown strong efficacy in the treatment of metastatic cancers as melanoma. However, restoring the immune function with these therapies to target cancer cells leads to immune side effects including immune cutaneous events. Vitiligo-like lesions in patients receiving anti-PD-1 is one of the most common skin adverse event reported and the incidence seems to be higher than in patients receiving other immune-checkpoints therapies. Initially described in patients with metastatic melanoma, vitiligo...
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
AbstractHereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253 –260, 2014). HLRCC is caused by germline mutations in theFH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. InFH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to ...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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