Based on a large study enrolling 323 MEN 2A patients, Quayle et al.
Therefore, the ATA recommends that pheochromocytoma screening (by plasma or 24-hour urine fractionated metanephrines) should begin by age 8 in carriers of RET mutations associated with MEN 2B and mutated RET codons 634 and 630 and by the age 20 years in carriers of other MEN 2A RET mutations.
For instance, the presence of hemangioblastomas (suggestive of von Hippel-Lindau) or medullary thyroid carcinoma along with pheochromocytoma (suggestive of MEN 2A) strongly implies mutations in VHL or RET gene, respectively [27, 29].
We think it is useful in the screening of RET for the most common mutation in MEN 2A and especially to establish the carrier status in members of families with MEN 2A and FMTC already characterized as having the 634 mutation.
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.