Table 3.

Clinical and therapeutic implications

Clinical

- The MEN1 syndrome causes tumours in more tissue types than any other syndrome - Pituitary tumours in MEN1 have the same hormonal profile as sporadic pituitary tumours. All other pituitary tumour syndromes (isolated pituitary tumours, Carney complex, McCune-Albright) favour GH tumours - Pituitary tumours are larger in MEN1 cases than in sporadic cases - Germline mutation is the basis for multiplicity of hereditary tumours. Surprisingly, pituitary tumour in MEN1 is rarely multiple - Most cases of MEN1 have a germline MEN1 mutation. About 1% have p27 mutation

Therapeutic

- The MEN1 gene contributes by mutation to tumorigenesis in many tissues, mainly endocrine. MEN1 mutation is less frequent in sporadic tumours of pituitary tissue than of other endocrine tissues. Detecting such a mutation is not important in clinical practice - More importantly, understanding the molecular pathway of MEN1 and its encoded menin could lead to new drugs for many endocrine tumours - Germline MEN1 mutation testing can provide useful information for patients and caregivers - For example, early diagnosis of MEN1 cannot guide the prevention of MEN1 cancers due to their critical locations. However, it can lead to the monitoring for emergence of morbid but treatable tumours, such as macro-prolactinoma