PMID- 23259638
OWN - NLM
STAT- MEDLINE
DCOM- 20130722
LR  - 20211021
IS  - 1471-2407 (Electronic)
IS  - 1471-2407 (Linking)
VI  - 12
DP  - 2012 Dec 22
TI  - Functioning glucagonoma associated with primary hyperparathyroidism: multiple 
      endocrine neoplasia type 1 or incidental association?
PG  - 614
LID - 10.1186/1471-2407-12-614 [doi]
AB  - BACKGROUND: 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. CASE PRESENTATION: The patient, a 65-year old woman, had 
      been suffering for more than 1 year from weakness, progressive weight loss, 
      angular cheilitis, glossitis and, more recently, skin rashes on the perineum, 
      perioral skin and groin folds. After multidisciplinary investigations, 
      functioning glucagonoma and asymptomatic pHPT were diagnosed and, since family 
      history was negative, sporadic MEN1 was suspected. However, genetic testing 
      revealed neither MEN-1 nor other gene mutations responsible for rarer cases of 
      MEN1 (CDKN1B/p27 and other cyclin-dependent kinase inhibitor genes CDKN1A/p15, 
      CDKN2C/p18, CDKN2B/p21). The patient underwent distal splenopancreatectomy and at 
      the 4-month follow-up she showed complete remission of symptoms. Six months 
      later, a thyroid nodule, suspected to be a malignant neoplasia, and two 
      hyperfunctioning parathyroid glands were detected respectively by ultrasound with 
      fine needle aspiration cytology and 99mTc-sestamibi scan with SPECT acquisition. 
      Total thyroidectomy was performed, whereas selective parathyroidectomy was 
      preferred to a more extensive procedure because the diagnosis of MEN1 was not 
      supported by genetic analysis and intraoperative intact parathyroid hormone had 
      revealed "adenoma-like" kinetics after the second parathyroid resection. 
      Thirty-nine and 25 months after respectively the first and the second operation, 
      the patient is well and shows no signs or symptoms of recurrence. CONCLUSIONS: 
      Despite well-defined diagnostic criteria and guidelines, diagnosis of MEN1 can 
      still be challenging. When diagnosis is doubtful, appropriate management may be 
      difficult to establish.
FAU - Erdas, Enrico
AU  - Erdas E
AD  - General Surgery Unit, Department of Surgical Sciences, San Giovanni di Dio 
      Hospital, University of Cagliari, Cagliari, Italy. enricoerdas@medicina.unica.it
FAU - Aste, Nicola
AU  - Aste N
FAU - Pilloni, Luca
AU  - Pilloni L
FAU - Nicolosi, Angelo
AU  - Nicolosi A
FAU - Licheri, Sergio
AU  - Licheri S
FAU - Cappai, Antonello
AU  - Cappai A
FAU - Mastinu, Marco
AU  - Mastinu M
FAU - Cetani, Filomena
AU  - Cetani F
FAU - Pardi, Elena
AU  - Pardi E
FAU - Mariotti, Stefano
AU  - Mariotti S
FAU - Pomata, Mariano
AU  - Pomata M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20121222
PL  - England
TA  - BMC Cancer
JT  - BMC cancer
JID - 100967800
SB  - IM
MH  - Adenoma, Oxyphilic/complications/physiopathology
MH  - Aged
MH  - Female
MH  - Glucagonoma/*complications/physiopathology
MH  - Humans
MH  - Hyperparathyroidism, Primary/*complications/physiopathology/surgery
MH  - *Multiple Endocrine Neoplasia Type 1
MH  - Pancreatic Neoplasms/*complications/physiopathology
MH  - Thyroid Neoplasms/*complications/physiopathology
PMC - PMC3543729
EDAT- 2012/12/25 06:00
MHDA- 2013/07/23 06:00
PMCR- 2012/12/22
CRDT- 2012/12/25 06:00
PHST- 2012/10/25 00:00 [received]
PHST- 2012/12/18 00:00 [accepted]
PHST- 2012/12/25 06:00 [entrez]
PHST- 2012/12/25 06:00 [pubmed]
PHST- 2013/07/23 06:00 [medline]
PHST- 2012/12/22 00:00 [pmc-release]
AID - 1471-2407-12-614 [pii]
AID - 10.1186/1471-2407-12-614 [doi]
PST - epublish
SO  - BMC Cancer. 2012 Dec 22;12:614. doi: 10.1186/1471-2407-12-614.