Abstrakt
Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome which main component is medullary thyroid carcinoma (MTC). The natural history of MTC is mainly determined by RET mutations.
The second main component of MEN2A is pheochromocytoma. The latest American Thyroid Association guidelines suggested ages to begin biological screening for pheochromocytoma depending on RET mutations.
However, other factors could modify the natural history of pheochromocytoma. We collected data from a large international cohort, based on 812 patients, and grouped them according to 4 geographical areas: South America, Southern Europe, Central Europe and Western Europe.
Our results show that MEN2 pheochromocytoma penetrance is different in South America compared to Europe, with a later age at diagnosis of unilateral and bilateral pheochromocytoma. We hypothesize that modifier variants or environmental factors could explain this difference, but they remain to be determined.
Our results emphasize the fact that personalized medicine in MEN2 should not only focus on RET mutations to determine the outcome of this rare syndrome.