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Endocrine Abstracts (2018) 56 P138 | DOI: 10.1530/endoabs.56.P138

Hospital General Universitario Gregorio Marañón, Madrid, Spain.

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with an incidence of 1 in 2600 to 3000 individuals. Patients with this disorder are characterized by multiple neurofibromas, caf-au-lait macules, axillary freckling, optic gliomas, iris hamartomas, and skeletal abnormalities. Overall risk of developing neoplasms is approximately 2 to 4-fold higher in patients with NF1, with a risk of malignancy estimated between 5 and 15%. Endocrinopathies are sometimes associated with this condition. Patients with NF1 usually assessed at Endocrinology consultation are those who suffer from gastroenteropancreatic neuroendocrine tumours (NET) (~1.0%) and/or pheochromocytomas/paragangliomas (~0.1-5.0%). Gastroenteropancreatic involvement in NF1 includes gastrointestinal stromal tumors (GIST), carcinoids, somatostatinomas, gastrinomas, insulinomas and nonfunctioning pancreatic tumors.

Methods: We identified 11 patients with NF1 who are still ongoing follow-ups at the Endocrinology Service of our Centre. Of those, two were found to be affected by NETs. We describe the demographic characteristics, the age of diagnosis, the type of tumor and its current status.

Results: Case 1. A 58-year-old woman that underwent an enucleation of a pancreatic somastotatinoma at the age of 15. She has non-specific lesions in the liver, but none with evidence of metastases and on the other hand has high chromogranin a (CgA) levels, therefore she is being treated with a somatostatin analogue.

Case 2. A 70-year-old man proceded to a pancreatoduodenectomy of a dudodenal somastotinoma at the age of 67. The tumor size was 25 mm and the average Ki67<5%. There is currently no evidence of metastases and CgA levels are normal.

Conclusions: Although association of gastroenteropancreatic NETs in the context of patients with NF1 is uncommon, these patients’ treating physicians should be aware of such possibility. Surgical removal of the NET is the first-line therapy and is potentially curable if there is no significant delay in the diagnosis.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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