Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?
Authors:
- Enrico ErdasEEEnrico Erdas
- Nicola AsteNANicola Aste
- Luca PilloniLPLuca Pilloni
- Angelo NicolosiANAngelo Nicolosi
- Sergio LicheriSLSergio Licheri
- Antonello CappaiACAntonello Cappai
- Marco MastinuMMMarco Mastinu
- Filomena CetaniFCFilomena Cetani
- Elena PardiEPElena Pardi
- Stefano MariottiSMStefano Mariotti
- Mariano PomataMPMariano Pomata
Open Access
- 22 December 2012
- journal article
- case report
- Published by Springer Nature in BMC Cancer
- Vol. 12 (1) , 614
Abstract
Diagnosis of multiple endocrine neoplasia type 1 (MEN1) is commonly based on clinical criteria, and confirmed by genetic testing. In patients without known MEN1-related germline mutations, the possibility of a casual association between two or more endocrine tumors cannot be excluded and subsequent management may be difficult to plan. We describe a very uncommon case of functioning glucagonoma associated with primary hyperparathyroidism (pHPT) in which genetic testing failed to detect germline mutations of MEN-1 and other known genes responsible for MEN1.Keywords
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