Familial pheochromocytomas and paragangliomas: stories from the sign-out room.
In this overview we present five patients with apparently sporadic pheochromocytomas or paragangliomas which turned out to be associated with an inheritable familial disease. For each patient a family history together with clinical, morphological, as well as molecular data are reported. The identified syndromes include multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), and familial pheochromocytoma/paraganglioma syndrome (SDHx). A brief summary of phenotypes, the genes involved, and typical mutations in these syndromes is provided.
Perren
Aurel
A
Institute of Surgical Pathology, University Hospital Zürich, Switzerland.
Komminoth
Paul
P
D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D010673:Pheochromocytoma / Q000235:genetics* / Q000473:pathology; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology