A novel RET gene mutation in a patient with apparently sporadic pheochromocytoma.
Catania, Italy. In Endocr J, Nov 2015
The recent discovery of new germline mutations in RET, SDHA, SDHB, SDHC, SDHD, VHL, NF1, TMEM127, MAX genes, increased the rate of genetic disease from 10% to 28% in patients with apparently sporadic tumor.
Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
Paris, France. In Nat Rev Endocrinol, Feb 2015
DNA methylation profiling has uncovered a hypermethylator phenotype in tumours related to SDHx genes (a group of genes comprising SDHA, SDHB, SDHC, SDHD and SDHAF2) and revealed that succinate acts as an oncometabolite, inhibiting 2-oxoglutarate-dependent dioxygenases, such as hypoxia-inducible factor prolyl-hydroxylases and histone and DNA demethylases.
Von Hippel-Lindau disease.
Boston, United States. In Annu Rev Pathol, 2006
pVHL, by inhibiting atypical protein kinase C and hence JunB, also affects neuronal survival, as do the products of the other genes linked to familial pheochromocytoma or paraganglioma (NF1, RET, SDHB, SDHC, and SDHD).