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Genetic disorders and insulinoma/glucagonoma.

Insulinoma and glucagonoma are two rare functioning neoplasms of the neuroendocrine cells of the pancreas, respectively characterized by an uncontrolled over-secretion of insulin or glucagon, responsible for the development of the hypoglycemic syndrome and the glucagonoma syndrome. They prevalently arise as sporadic tumors; only about 10% of cases develop in the context of rare inherited tumor syndromes, such as Multiple Endocrine Neoplasia Type 1 (MEN1), Neurofibromatosis type 1 (NF1), and Tuberous Sclerosis Complex (TSC), being the result of an autosomal dominant germline heterozygous loss-of-function mutation in a tumor suppressor gene. Here, we reviewed the main epidemiological and clinical aspects of insulinoma and glucagonoma in the context of genetic syndromes.

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