Living with a RET gene mutation: patient perspectives.

Abstract

Multiple endocrine neoplasia type 2 (MEN2) is the collective term for two distinct types of autosomal dominantly inherited neuroendocrine neoplasm syndromes: MEN2A and MEN2B (or MEN3). MEN2 is characterised by medullary thyroid cancer (MTC) (99%) and phaeochromocytoma (50%) and also other conditions according to specific genotype. MEN2A also includes a 25% risk of developing parathyroid hyperplasia and is now recognised as four separate syndromes: classic MEN2A, MEN2A with cutaneous lichen amyloidosis, MEN2A with Hirschsprung's disease and familial MTC. MEN2B accounts for around 5% of all MEN2 cases and predisposes patients to diffuse intestinal ganglioneuromatosis, mucosal neuromas and musculoskeletal abnormalities. MEN2 is autosomal dominantly inherited, meaning that several generations in a single family may be affected by the same syndrome. We present a mini review of four case studies (×2 MEN2A and ×2 MEN2B) that illustrate the advantages of RET testing, as well as some of the likely obstacles that must be overcome to receive a diagnosis of MEN2A or MEN2B. In addition, despite improved genotype/phenotype correlation in MEN2, we highlight that not all cases are 'typical', which emphasises the need for all MEN2 patients to be cared for in a centre of expertise and experience. Some of our case study patients or their parents also took this opportunity to personally tell us more about their lives with MEN2, illustrating the need for more research into the psychosocial impact of these hereditary diseases.