title: The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond.
abstract: Patients suffering from the neurofibromatosis type 1 syndrome, which is caused by germline mutations in the NF1 gene, have a tiny but not negligible risk of developing pheochromocytomas. It is, therefore, of interest that the NF1 gene has recently been revealed to carry somatic, inactivating mutations in a total of 35 (21.7%) of 161 sporadic pheochromocytomas in two independent tumor series. A majority of the tumors in both studies displayed loss of heterozygosity at the NF1 locus and a low NF1 mRNA expression. In view of previous findings that many sporadic pheochromocytomas cluster with neurofibromatosis type 1 syndrome-associated pheochromocytomas instead of forming clusters of their own, NF1 inactivation appears to be an important step in the pathogenesis of a large number of sporadic pheochromocytomas. A literature and public mutation database review has revealed that pheochromocytomas are among those human neoplasms in which somatic NF1 alterations are most frequent.
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden. jenny.welander@liu.se
authors.forename: Jenny
authors.initials: J
authors.lastname: Welander
authors.forename: Peter
authors.initials: P
authors.lastname: Söderkvist
authors.forename: Oliver
authors.initials: O
authors.lastname: Gimm
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*
chemical_list: D025542:Neurofibromin 1
keywords: NF1; molecular genetics; pheochromocytomas; somatic mutations; sporadic tumors