title: [Hereditary pheochromocytoma-associated syndromes. Part 1].
abstract: Pheochromocytoma (PCC)/paraganglioma is a catecholamine-secreting tumor of the paraganglion. The hereditary variants of PCC have been previously considered to occur in 10% of cases. The latest researches have clearly demonstrated that the hereditary cause of chromaffin tumors is revealed in a much larger number of patients. There have been the most investigated NF, RET, VHL, SDHD, SDHC, and SDHB gene mutations. New EGLN1/PHD2, KIF1B, SDH5/SDHAF2, IDH1, TMEM127, SDHA, MAX, and HIF2A gene mutations have been recently discovered. This review describes new ideas of the genetic bases of PCC. The authors discuss criteria for patient referral for genetic examination on the basis of the phenotypic.manifestations of mutations, such as a malignant course, bilateral adrenal lesion, and age at disease manifestations. Recommendations are determined for carriers to screen for the components of hereditary pathology.
authors.affiliation: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: M Yu
authors.initials: MY
authors.lastname: Yukina
authors.affiliation: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: E A
authors.initials: EA
authors.lastname: Troshina
authors.affiliation: Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: D G
authors.initials: DG
authors.lastname: Beltsevich
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D005817:Genetic Counseling / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010673:Pheochromocytoma / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D011379:Prognosis; D013385:Succinate Dehydrogenase / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C491545:SDHD protein, human; C548370:TMEM127 protein, human; D013385:Succinate Dehydrogenase; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human