Familial isolated pituitary adenoma (FIPA) is an autosomal dominant disease, characterized by low penetrance, early-onset disease, more invasive tumor growth, as well as somatotroph and lactotroph adenomas in most cases. It has been indicated that the aryl hydrocarbon receptor interacting protein (AIP) gene is a tumor suppressor gene.
The exact molecular mechanism by which its disfunction promotes tumorigenesis of pituitary is unclear 1).
Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are present in 15-30% of familial isolated pituitary adenoma (FIPA) families, and are responsible for 30% of pituitary gigantism cases (1). However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes (2).
Marques et al. report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pituitary adenomas and their first-cousin coincidently also having gigantism due to Marfan syndrome 2).