Pituitary Adenoma as Part of Inherited Tumor Syndromes |
Syndrome |
Gene |
Pituitary Pathology |
Notes |
MEN1 |
MEN1 |
Prolactin-producing adenoma (66%); GH-producing adenoma; nonfunctional adenoma |
40% of patients with MEN1 develop PA; MEN1 mutation uncommon in sporadic cases |
McCune-Albright syndrome |
GNAS1 |
GH-producing adenoma; somatomammotrope hyperplasia |
GNAS1 mutation present in 40% of sporadic; high GH and IGF1 levels |
Carney complex |
PRKAR1A |
GH-producing adenoma; characterized by multiple microadenomas and somatomammotrope hyperplasia |
Acromegaly occurs in 10% of patients with Carney complex; pituitary hyperplasia is characteristic |
FIPA |
AIP |
GH-producing adenoma; prolactin-producing adenoma; other subtypes of PA |
AIP mutation is present in 15-20% of FIPAs, in 50% of familial acromegaly, and in a small proportion of sporadic PAs; almost 90% are GH-producing PAs; most patients with AIP mutation are men (70%), have macroadenomas (97%), and are younger at time of diagnosis than patients with other PAs |
IFS |
AIP |
GH-producing adenoma |
MEN4 |
CDKN1B |
GH-producing PA |
Associated with hyperparathyroidism; few reported cases and families |
FIPA: Familial isolated pituitary adenoma; GH: Growth hormone; IFS: Isolated familial somatotropinoma syndrome; MEN1: Multiple endocrine neoplasia 1; MEN4: Multiple endocrine neoplasia 4; PA: Pituitary adenoma. |
