Multiple endocrine neoplasia type 2 (MEN2) is characterised by tumour development in various endocrine organs and is caused by germline missense mutations in the RET proto-oncogene.

In a retrospective study conducted in a specialised ambulatory care centre in Germany, Mucha et al. aimed to characterise the exon- and codon-specific penetrance and age-related development of phaeochromocytoma among 309 MEN2 patients. Phaeochromocytoma penetrance and age of diagnosis were highly correlated with medullary thyroid cancer (MTC) aggressiveness based on RET mutation status, with higher penetrance and younger age of diagnosis associated with more aggressive MTC. Penetrance steadily increased with age.

The authors comment that while RET mutations at codon 634 and 918 are reported to be strongly associated with the presence of phaeochromocytoma, it is still necessary to screen the MEN2 kindred for phaeochromocytoma, regardless of the RET mutation present. At-risk patients require lifelong follow-up.

Read the full article in Clinical Endocrinology 87 320–326.