SFE2005 Poster Presentations Endocrine tumours and neoplasia (5 abstracts)
The RET mutation E768D confers a late onset FMTC-only phenotype with incomplete penetrance
DO McCall 1 , T Dabir 3 , CFJ Russell 2 , PJ Morrison 3 & SJ Hunter 1
1Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast, United Kingdom , 2Department of Endocrine Surgery, Royal Victoria Hospital, Belfast, United Kingdom , 3Department of Medical Genetics, Belfast City Hospital, Belfast, United Kingdom.
Mutations of the RET proto-oncogene are associated with MEN and FMTC and aid diagnosis and predictive testing in family members. Genotype-phenotype correlations are also used to plan therapeutic decisions. We describe a 4 generation family with a rare E768D mutation in exon 13. The index case was diagnosed with MTC at age 54 and remains free of clinical disease 11 years following thyroidectomy and neck irradiation. 2 further family members were identified with MTC at age 25 and 50y. Of 5 gene carriers two are asymptomatic at age 70 and 61y. The former of these asymptomatic carriers has 3 gene carrier sons who have undergone prophylactic surgery with one having a normal thyroid at age 46, one with C-cell hyperplasia at age 39 and one with a focus of MTC at age 45. No members had evidence of phaeochromocytoma or parathyroid disease on screening.
The RET E768D mutation is associated with a MTC-only syndrome with a later age at onset, incomplete penetrance and less aggressive clinical course compared with other high risk RET mutations. The appropriate screening strategy for and management of E768D carriers is difficult reflecting the phenotypic heterogeneity.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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