MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics

摘要: Pituitary adenomas are a common feature of subset endocrine neoplasia syndromes, which have otherwise highly variable disease manifestations. We provide here review the clinical features and human molecular genetics multiple (MEN) type 1 4 (MEN1 MEN4, respectively) Carney complex (CNC). MEN1, CNC hereditary autosomal dominant syndromes that can present with pituitary adenomas. MEN1 is caused by inactivating mutations in gene, whose product menin involved intracellular pathways contributing to transcriptional control cell proliferation. include primary hyperparathyroidism, pancreatic neuroendocrine tumours prolactinomas as well other A patients CDKN1B gene; their has been called MEN4. Inactivating 1α regulatory subunit protein kinase (PKA; PRKAR1A gene), lead dysregulation activation PKA pathway, main genetic cause CNC, clinically characterised pigmented nodular adrenocortical disease, spotty skin pigmentation (lentigines), cardiac myxomas acromegaly due somatotropinomas or somatotrope hyperplasia.