Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies.
Pancreatic endocrine tumors (PETs) can occur as part of 4 inherited disorders, including Multiple Endocrine Neoplasia type 1 (MEN1), von Hippel-Lindau disease (VHL), neurofibromatosis 1 (NF-1) (von Recklinghausen disease), and the tuberous sclerosis complex (TSC). The relative frequency with which patients who have these disorders develop PETs is MEN1>VHL>NF-1>TSC. Over the last few years, there have been major advances in the understanding of the genetics and molecular pathogenesis of these disorders as well in the localization and the medical and surgical treatment of PETs in such patients. The study of PETs in these disorders not only has provided insights into the possible pathogenesis of sporadic PETs but also has presented several unique management and treatment issues, some of which are applicable to patients with sporadic PETs. Therefore, the study of PETs in these uncommon disorders has provided valuable insights that, in many cases, are applicable to the general group of patients with sporadic PETs. In this article, these areas are reviewed briefly along with the current state of knowledge of the PETs in these disorders, and the controversies that exist in their management are summarized briefly and discussed.
Jensen
Robert T
RT
Digestive Diseases Branch, National Institutes of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA. roberj@bdg10.niddk.nih.gov
Berna
Marc J
MJ
Bingham
David B
DB
Norton
Jeffrey A
JA
D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011379:Prognosis; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
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