Endocrine Abstracts (2004) 7 P86

A clinic for multiple endocrine neoplasia highlights needs for greater family awareness of type 1 MEN and for genetic testing of other family members

JH Pinkney1, IA MacFarlane1, S Ellard2 & D Cave-Bigley1

1University Hospital Aintree, Liverpool, UK; 2Royal Devon & Exeter NHS Healthcare Trust, UK.

Background: The availability of genetic testing has major implications for family management in MEN syndromes. In order to offer systematic genetic and endocrine screening for type 1 and type 2 MEN we invited patients with possible MEN syndromes to a dedicated clinic.

Outcomes: In the first year 16 subjects (from 12 families) were seen, with a total of 28 previous or current tumours (12 hyperparathyroidism, 10 pituitary and 6 foregut tumours). Eight subjects from 12 families (58%) with clinically probable or possible MEN1 consented to genetic testing. Two had mutations in the MEN1 gene (and by implication their 2 relatives). Two families with clinically likely MEN1 did not want testing. Another six had no mutation and were thought unlikely to have MEN1 clinically, and were discharged. One patient with a family history of phaeochromocytoma screened negative for RET gene mutations. Twenty eight relatives with presumed MEN1 were identified from families histories, along with at least another 18 mainly young potential carriers of MEN1 who had never been offered counselling, genetic testing or endocrine screening.

Conclusions: 1) Genetic testing for MEN1 focused clinic resources on subjects requiring annual endocrine surveillance. 2) There are large number of other family members who should be offered genetic testing.

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