Unusual clinical presentation of a patient with multiple endocrine neoplasia type 2A.
The present report describes an unusual presentation of a female with MEN-2A. During 14 years she only had moderate symptoms. Occasionally she had slightly elevated basal calcitonin levels and abnormal pentagastrin tests, whereas thyroid scanning and echography were normal. At the age of 70 she developed bilateral pheochromocytoma. DNA-analysis demonstrated a germline Cys 611 Tyr mutation in the RET proto-oncogen on chromosome 10q11.2. One year after bilateral adrenalectomy again she developed overt symptoms of pheochromocytoma. The differential diagnosis and the importance of routine screening for RET mutations are discussed.
Schuurman
B
B
Department of Internal Medicine, Canisius-Wilhelmina hospital, Weg door Jonkerbos 100, 6532 SZ, Nijmegen, The Netherlands. miba@xs4all.nl
D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000368:Aged; D002879:Chromosomes, Human, Pair 10; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D011519:Proto-Oncogenes / Q000235:genetics*