title: Novel mutation in the TMEM127 gene associated with phaeochromocytoma.
abstract: Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal glands or paraganglia (paragangliomas) within the abdomen, thorax and neck. Although it was originally suggested that approximately 10% of these tumours were inherited, it is now recognised that up to approximately 30% of these tumours are associated with a germline mutation in one of the phaeochromocytoma/paraganglioma susceptibility genes. Of the 12 currently known genes predisposing to these tumours, the TMEM127 gene is one of the more recently identified and appears to be present in approximately 2% of apparently sporadic phaeochromocytomas. We report a 33-year-old man who presented with an apparently sporadic adrenal phaeochromocytoma and was identified as carrying a novel TMEM127 germline mutation, p.Gln139X. Patients harbouring a germline TMEM127 mutation most commonly present with an apparently sporadic solitary adrenal phaeochromocytoma. Testing patients who present with a phaeochromocytoma or paraganglioma for an underlying germline mutation needs to be considered in all patients due to implications for family members, but a strategy based on clinical and immunohistochemical findings would be prudent to limit costs.
authors.affiliation: Department of Endocrinology, Waikato Hospital, Hamilton, New Zealand. marianne.elston@waikatodhb.health.nz
authors.forename: M S
authors.initials: MS
authors.lastname: Elston
authors.forename: G Y
authors.initials: GY
authors.lastname: Meyer-Rochow
authors.forename: D
authors.initials: D
authors.lastname: Prosser
authors.forename: D R
authors.initials: DR
authors.lastname: Love
authors.forename: J V
authors.initials: JV
authors.lastname: Conaglen
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C548370:TMEM127 protein, human