{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T05:54:39Z","timestamp":1790056479831,"version":"4.0.1"},"reference-count":65,"publisher":"Bioscientifica","issue":"5","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,3,28]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1530\/erc-23-0245","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T10:45:27Z","timestamp":1711622727000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":9,"title":["Genetic disorders and insulinoma\/glucagonoma"],"prefix":"10.1530","volume":"31","author":[{"given":"Francesca","family":"Marini","sequence":"first","affiliation":[{"name":"Fondazione FIRMO Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Giusti","sequence":"additional","affiliation":[{"name":"Donatello Bone Clinic, Villa Donatello Hospital, Sesto Fiorentino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8741-0592","authenticated-orcid":true,"given":"Maria Luisa","family":"Brandi","sequence":"additional","affiliation":[{"name":"Fondazione FIRMO Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy"},{"name":"Donatello Bone Clinic, Villa Donatello Hospital, Sesto Fiorentino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Saudi Medical Journal","first-page":"332","article-title":"Insulinoma in tuberous sclerosis: an entity not to be missed","volume":"42","author":"Al Qahtani","year":"2021","unstructured":"Al Qahtani MSBojal SAAlqarzaie AA & Alqahtani AA2021Insulinoma in tuberous sclerosis: an entity not to be missed. 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(https:\/\/doi.org\/10.1186\/1471-2407-12-614)"},{"key":"bib21","series-title":"Journal of Gastroenterology","first-page":"59","article-title":"Malignant endocrine tumor of the pancreas associated with von Recklinghausen\u2019s disease","volume":"37","author":"Fujisawa","year":"2002","unstructured":"Fujisawa TOsuga TMaeda MSakamoto NMaeda TSakaguchi KOnishi YToyoda MMaeda HMiyamoto K, et al.2002Malignant endocrine tumor of the pancreas associated with von Recklinghausen\u2019s disease. Journal of Gastroenterology3759\u201367. (https:\/\/doi.org\/10.1007\/s535-002-8135-x)"},{"key":"bib22","series-title":"JBUON","first-page":"1302","article-title":"Insulinomas: from diagnosis to treatment. A review of the literature","volume":"25","author":"Giannis","year":"2020","unstructured":"Giannis DMoris DKarachaliou GSTsilimigras DIKaraolanis GPapalampros A & Felekouras E2020Insulinomas: from diagnosis to treatment. A review of the literature. JBUON251302\u20131314."},{"key":"bib23","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3119","article-title":"Hypercalcemia in glucagon cell hyperplasia and neoplasia (Mahvash syndrome): a new association","volume":"103","author":"Gild","year":"2018","unstructured":"Gild MLTsang VSamra JClifton-Bligh RJTacon L & Gill AJ2018Hypercalcemia in glucagon cell hyperplasia and neoplasia (Mahvash syndrome): a new association. Journal of Clinical Endocrinology and Metabolism1033119\u20133123. (https:\/\/doi.org\/10.1210\/jc.2018-01074)"},{"key":"bib24","series-title":"Pancreas","first-page":"547","article-title":"Surgical management of insulinomas in multiple endocrine neoplasia type 1","volume":"41","author":"Giudici","year":"2012","unstructured":"Giudici FNesi GBrandi ML & Tonelli F2012Surgical management of insulinomas in multiple endocrine neoplasia type 1. Pancreas41547\u2013553. 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