Pheochromocytoma Therapeutic Pipeline Review H1 2015 Market Research...
RnRMarketResearch.com adds “Pheochromocytoma – Pipeline Review, H1 2015” to its store. The report provides an overview of the Pheochromocytoma’s therapeutic pipeline.(PRWeb May 20, 2015)Read the full story at http://www.prweb.com/releases/pheochromocytoma-pipeline/review-h1-2015-market/prweb12733418.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - May 20, 2015 Category: Pharmaceuticals Source Type: news

The CNIO identifies a new gene involved in hereditary neuroendocrine tumors
(Centro Nacional de Investigaciones Oncologicas (CNIO)) Mutations in the MDH2 gene, a key factor in cellular metabolism, are associated with the development of pheochromocytomas and paragangliomas, neuroendocrine tumors that affect the suprarenal and parathyroid glands, respectively. Up to 50 percent of patients inherit and/or transmit susceptibility to developing these tumors. The discovery will enable genetic diagnosis prior to the appearance of the disease. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - March 30, 2015 Category: Cancer & Oncology Source Type: news

Progenics Pharmaceuticals Presents Long Term Follow-Up of Pivotal Phase 2 Trial of Azedra in Malignant Pheochromocytoma
(Source: Medical News (via PRIMEZONE))
Source: Medical News (via PRIMEZONE) - September 22, 2014 Category: Pharmaceuticals Source Type: news

TERT promoter mutations in adrenal tumours
The telomerase reverse transcriptase gene (TERT) is essential for telomere stabilization and cell immortalization. A role for TERT promoter mutations C228T and C250T has been demonstrated in aggressive human cancer. The underlying mechanisms of telomerase activation is not known in adrenal tumors. Liu and colleagues assessed C228T and C250T TERT mutations, finding that TERT promoter mutation C228T is a recurrent event associated with adrenocortical carcinoma, but rarely occurs in paraganglioma or pheochromocytoma. The involvement of the TERT gene in adrenocortical carcinoma is a new finding. Read the full article at Liu e...
Source: Society for Endocrinology - June 26, 2014 Category: Endocrinology Source Type: news

Biochemical and radiological features of pheochromocytoma
Pheochromocytomas (PHEOs) are catecholamine-producing neuroendocrine tumours and can cause life-threatening hypertensive crises. An elevation (> 4-fold above the upper limit of normal (ULN)) of fractionated metanephrine (MN) and nor-metanephrine (NMN), collectively called metanephrines (MN and NMN), either in plasma or urine are the most sensitive tests for the diagnosis of PHEO. There are a greater number of false positive results when the elevations are more modest. Kannan et al. retrospectively reviewed the charts of patients with and without PHEO in order to identify biochemical and radiological features in PHE...
Source: Society for Endocrinology - June 26, 2014 Category: Endocrinology Source Type: news

Endocrine Society First to Address Rare Adrenal-Tumor CareEndocrine Society First to Address Rare Adrenal-Tumor Care
New clinical practice guidelines are the first ever to address management of patients with pheochromocytoma and paraganglioma, rare adrenal tumors that can be fatal if not diagnosed. Medscape Medical News (Source: Medscape Diabetes Headlines)
Source: Medscape Diabetes Headlines - June 5, 2014 Category: Endocrinology Tags: Diabetes & Endocrinology News Source Type: news

Experts recommend blood, urine testing to diagnose rare adrenal tumors
(The Endocrine Society) The Endocrine Society today issued a Clinical Practice Guideline for the diagnosis and treatment of two types of rare adrenal tumors -- pheochromocytomas and paragangliomas -- that can raise the risk of cardiovascular disease and even death if left untreated. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 3, 2014 Category: Global & Universal Source Type: news

New Source of Fat Tissue Stem Cells Found
(MedPage Today) -- Islets of brown adipose tissue (BAT) have been identified in the fat deposits surrounding human pheochromocytoma tumors, according to Italian researchers. (Source: MedPage Today Endocrinology)
Source: MedPage Today Endocrinology - May 8, 2014 Category: Endocrinology Source Type: news

Exome sequencing in phaeochromocytoma/paraganglioma
In this study, McInerney-Leo et al. have assessed whether whole exome sequencing (WES), using an off-the-shelf exome capture platform rather than designing individual targeted assays, is a sensitive, time- efficient and cost-effective way to offer genetic testing in a population of individuals with established diagnosis of PCC/PGL. They also evaluated the target capture of the currently available exome capture platforms for exons of the known PCC/PGL genes. They demonstrate that WES accurately diagnosed all mutations in all 11 patients with PCC/PGL in whom mutations had been detected previously by Sanger sequencing. Furth...
Source: Society for Endocrinology - January 27, 2014 Category: Endocrinology Source Type: news

Long-term prognosis in pediatric pheochromocytoma
A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. Using the European–American–Pheochromocytoma–Paraganglioma Registry as a platform, Bausch and colleagues report the first and only population-based study of longterm outcomes in pediatric pheochromocytoma. Read the full article at Bausch et al. (2014) Endocrine-Related Cancer 21; 17&nda...
Source: Society for Endocrinology - January 24, 2014 Category: Endocrinology Source Type: news

Exome sequencing in phaeochromocytoma/paraganglioma
In this study, McInerney-Leo et al. have assessed whether whole exome sequencing (WES), using an off-the-shelf exome capture platform rather than designing individual targeted assays, is a sensitive, time- efficient and cost-effective way to offer genetic testing in a population of individuals with established diagnosis of PCC/PGL. They also evaluated the target capture of the currently available exome capture platforms for exons of the known PCC/PGL genes. They demonstrate that WES accurately diagnosed all mutations in all 11 patients with PCC/PGL in whom mutations had been detected previously by Sanger sequencing. Furth...
Source: Society for Endocrinology - January 24, 2014 Category: Endocrinology Source Type: news

What Neoplasms are Patients with Neurofibromatosis At Risk For?
Discussion Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases with a probable underestimated incidence of 1:3000. Also called phacomatoses, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses? The key elements of NF1 are: Neurofibromatosis Type 1 Epidemiology: 1:2500-3000 – most common phacomatosis Genetics: autosomal dominant with variable penetrance, associated with chromosome 17 Neurological: various central nervous system tumors especially neurofibromas (often benign but may act malignant because of location or size, tumors may also degenerate into a ma...
Source: PediatricEducation.org - September 23, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news

What Neoplasms are Patients with Neurofibromatosis At Risk For?
Discussion Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases with a probable underestimated incidence of 1:3000. Also called phacomatoses, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses? The key elements of NF1 are: Neurofibromatosis Type 1 Epidemiology: 1:2500-3000 – most common phacomatosis Genetics: autosomal dominant with variable penetrance, associated with chromosome 17 Neurological: various central nervous system tumors especially neurofibromas (often benign but may act malignant because of location or size, tumors may also degenerate into a ma...
Source: PediatricEducation.org - September 23, 2013 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Gene susceptibility testing in phaeochromocytoma and paraganglioma
Recent studies have suggested that around one-third of individuals with phaeochromocytoma or paraganglioma have an inherited genetic predisposition, prompting some calls for genetic testing in all patients with phaeochromocytoma or paraganglioma. Such a strategy is expensive, and variation between populations is large. Jafri and colleagues analysed data from a 10-year period in the West Midlands PPGL/HNPGL database, finding that clinical risk factors (positive family history, multiple tumours, earlier age at onset) could be used to target genetic testing in a cost-effective manner, though universal testing would be require...
Source: Society for Endocrinology - June 12, 2013 Category: Endocrinology Source Type: news

What Causes Hypercalcemia?
Discussion Calcium homeostasis is regulated by mechanisms involving the absorption from the gastrointestinal tract, bone deposition and resorption, and renal excretion. To review Vitamin D homeostasis click here. Serum calcium is found in three forms: free (47%), protein bound (43%) and diffusable calcium complexes (10%). The protein binding proteins are albumin (80%) and globulin (20%). The free calcium is the most important biologically. Acidosis also increases free calcium and alkalosis decreases free calcium. Problems associated with hypercalcemia include nausea, emesis, abdominal pain, constipation, polyuria, dehydra...
Source: PediatricEducation.org - March 25, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news