Novel mutation in the TMEM127 gene associated with phaeochromocytoma. Issue 4 (1st April 2013)

• Record Type: Journal Article
• Authors: Elston, M. S.; Meyer‐Rochow, G. Y.; Prosser, D.; Love, D. R.; Conaglen, J. V.
• Is Part Of: Internal medicine journal. Volume 43:Issue 4(2013)
• Page Start: 449
• Page End: 451
• Publication Date: 2013-04-01
• Subjects: Medicine -- Periodicals; 616
• DOI: 10.1111/imj.12088
• Languages: English
• ISSNs: 1444-0903

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>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 <italic>TMEM127</italic> 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 <italic>TMEM127</italic> germline mutation, p.Gln139X. Patients harbouring a germline <italic>TMEM127</italic> 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.</p> </abstract>