Patients with phenotypic features resembling MEN2B always require genetic testing even if the family history is negative, because of the high incidence of spontaneous mutations (approximately 50%) (32,33) and the early onset of MTC.
The high incidence of early aggressive tumours associated with MEN2B (11,34) warrants an aggressive surgical approach with early prophylactic thyroidectomy in gene carriers (<1 year).6,13 Total thyroidectomy is recommended, with central lymph node dissection being added in cases of MEN2B.