Molecular Genetics of Cushing's Disease

摘要: Cushing's disease is a rare severe condition caused by pituitary tumors that chronically hypersecrete ACTH leading to excessive endogenous glucocorticoid production. or corticotropinomas are typically monoclonal neoplasms mainly occur sporadically. very rarely encountered in genetic familial syndromes, such as MEN, FIPA, McCune–Albright and DICER syndrome, tuberosis sclerosis, Carney complex. Oncogenes tumor suppressor genes commonly associated with other types muted this type. The advent of next generation sequencing led the identification single mutational hotspot ubiquitin-specific protease 8 ( USP8 ) gene almost half tumors. This new discovery showcases novel mechanism responsible for corticotroph tumorigenesis hypersecretion highlights its downstream signaling pathways potential promising pharmacological targets management disease.