Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?

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• 作者：Enrico Erdas (1)
  Nicola Aste (2)
  Luca Pilloni (3)
  Angelo Nicolosi (4)
  Sergio Licheri (1)
  Antonello Cappai (5)
  Marco Mastinu (5)
  Filomena Cetani (6)
  Elena Pardi (6)
  Stefano Mariotti (5)
  Mariano Pomata (1)
  
• 关键词：Multiple endocrine neoplasia type 1 ; Glucagonoma ; Primary hyperparathyroidism
• 刊名：BMC Cancer
• 出版年：2012
• 出版时间：December 2012
• 年：2012
• 卷：12
• 期：1
• 全文大小：772KB
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  36. The pre-publication history for this paper can be accessed here:p://www.biomedcentral.com/1471-2407/12/614/prepub" class="a-plus-plus">http://www.biomedcentral.com/1471-2407/12/614/prepub
  
• 作者单位：Enrico Erdas (1)
  Nicola Aste (2)
  Luca Pilloni (3)
  Angelo Nicolosi (4)
  Sergio Licheri (1)
  Antonello Cappai (5)
  Marco Mastinu (5)
  Filomena Cetani (6)
  Elena Pardi (6)
  Stefano Mariotti (5)
  Mariano Pomata (1)
  
  1. General Surgery Unit, Department of Surgical Sciences, San Giovanni di Dio Hospital, University of Cagliari, Cagliari, Italy
  2. Dermatology Unit, Department of Medical Sciences, San Giovanni di Dio Hospital, University of Cagliari, Cagliari, Italy
  3. Pathology Unit, Department of Surgical Sciences, San Giovanni di Dio Hospital, University of Cagliari, Cagliari, Italy
  4. Endocrine Surgery Unit, Department of Surgical Sciences, Policlinico di Monserrato, University of Cagliari, Cagliari, Italy
  5. Endocrinology Unit, Department of Medical Sciences, Policlinico di Monserrato, University of Cagliari, Cagliari, Italy
  6. Endocrinology Unit, Department of Internal and Experimental Medicine, University of Pisa, Pisa, Italy
  
• ISSN：1471-2407

文摘

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.