Pituitary tumours can occur in a familial setting, either isolated, or as part of a syndromic condition, such as MEN1 or MEN4, Carney complex (CNC), McCune–Albright syndrome (MAS), phaeochromocytoma/paraganglioma with pituitary adenoma ( 3P associations, 3Pa), DICER1 syndrome and a USP8-related syndrome and some other rare conditions where the nature of association with pituitary adenomas needs further studies (Table 1).
Indeed, most pituitary tumours are sporadic, but approximately 5% can be due to a hereditary disease. While in families with multiple endocrine neoplasia type 1 (MEN1) syndrome it was long recognised that members can develop pituitary adenomas with incomplete penetrance, the flurry of conditions we can now list with a genetic cause of pituitary adenoma would have been well beyond imagination 20 years ago. The identification of the causative mutation allows genetic and clinical screening of relatives at risk, resulting in earlier diagnosis, a better therapeutic response and ultimately to better long-term outcomes.Ĭonsideration of genetic abnormalities in a patient with a pituitary tumour has only recently entered the clinical thinking of the practising endocrinologist. In this practical summary, we take a practical approach: which genetic syndromes should be considered in case of different presentation, such as tumour type, family history, age of onset and additional clinical features of the patient. Genetically determined pituitary tumours usually present at younger age and show aggressive behaviour, and are often resistant to different treatment modalities. While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated, or in a syndromic disorder, such as multiple endocrine neoplasia type 1 or 4, Carney complex, McCune–Albright syndrome, phaeochromocytoma/paraganglioma with pituitary adenoma, DICER1 syndrome, Lynch syndrome, and USP8-related syndrome. Pituitary tumours are usually benign and relatively common intracranial tumours, with under- and overexpression of pituitary hormones and local mass effects causing considerable morbidity and increased mortality.
0 kommentar(er)
