Risk category system to identify pituitary adenoma patients with AIP mutations

Pituitary tumours arise from the master gland located at the bottom of the brain. They can cause severe disease due to their abnormal hormone secretion and local damaging key structures such as vision. Around 5% of pituitary adenomas occur due to a heritable condition, we specifically studied patients and their families with mutation in the AIP gene often leading to abnormally rapid growth and gigantism.

With the help of a large international cohort of patients, we tried to predict, based on simple clinical data such as age of onset of disease and tumour size, who may carry an AIP gene mutation. This will help to identify patients who should be screened for the mutation and whose family therefore may benefit from early diagnosis and treatment. (By Dr. Dr. Francisca Caimari, http://jmg.bmj.com/content/early/2018/02/10/jmedgenet-2017-104957 )