Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental associationReport as inadecuate

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BMC Cancer

, 12:614

Clinical oncology


BackgroundDiagnosis 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 presentationThe 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 Tc-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.

ConclusionsDespite well-defined diagnostic criteria and guidelines, diagnosis of MEN1 can still be challenging. When diagnosis is doubtful, appropriate management may be difficult to establish.

KeywordsMultiple endocrine neoplasia type 1 Glucagonoma Primary hyperparathyroidism AbbreviationsMEN 1Multiple endocrine neoplasia type 1

pHPTPrimary hyperparathyroidism

PETsPancreatic endocrine tumors

CDKNCyclin-dependent kinase inhibitor genes

AIPAryl hydrocarbon receptor Interacting Protein

nrNormal range

iPTHIntact parathyroid hormone


NMENecrolytic migratory erythema

MDCTMultidetector-row computed tomography

nvNormal value

HPFHigh Power Field

WHOWorld Health Organization

AJCCAmerican Joint Committee on Cancer

BTABritish Thyroid Association


GTEGroupe d’etude des Tumours Endocrines

NIHNational Institute of Health

AACE-AAESAmerican Association of Clinical Endocrinologists-American Association of Endocrine Surgeons

PCRPolymerase chain reaction

MLPAMultiplex ligation-dependent probe amplification.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2407-12-614 contains supplementary material, which is available to authorized users.

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