Poster Presentation The International Congress of Neuroendocrinology 2014

Multiple Endocrine Neoplasia type 1 (MEN1) and malignant peripheral nerve sheath tumour (MPNST) – a new association? (#330)

Veronica Preda 1 , Mark Sywak 2 , Richard Maher 3 , Steve Ackland 4 , Diana Learoyd 1
  1. Department of Endocrinology, Royal North Shore Hospital, Sydney, St Leonards, NSW, Australia
  2. Department of Endocrine Surgery, Royal North Shore Hospital, St Leonards, NSW, Australia
  3. Department of Radiology, Royal North Shore Hospital, St Leonards, NSW, Australia
  4. Department of Oncology, Calvary Mater Newcastle Hospital,, Waratah, , NSW , Australia

A 69-year-old gentleman was diagnosed with MEN-1 in 2000; with hyperparathyroidism, pituitary prolactinoma, gastrinomas and skin lesions.  His hyperparathyroidism was managed with 3&½ gland parathyroidectomy in 2003.  The pituitary macroprolactinoma is managed with cabergoline, 1mg twice weekly, with MRI demonstrating a lesion 11mm in size and prolactin level of 500mIU/L.  Pancreatic gastrinomas have been controlled with Sandostatin LAR 20mg IM monthly since 2011.  Dotatate PET scanning suggests that the  gastrinomas have produced asymptomatic bony metastatic disease involving his humerus and 11th thoracic vertebra.  He was also found to have an asymptomatic non-functioning enlarging left adrenal mass from 9mm-30mm during serial imaging 2011-2013.  He underwent left retroperitoneoscopic adrenalectomy with the histopathology demonstrating a 50mm MPNST.  Postoperatively he underwent adjuvant radiotherapy.  Despite this there has been extensive recurrent sarcoma and he is currently palliated. 

MEN-1 is characterized by parathyroid tumours or hyperplasia, anterior pituitary adenomas and pancreatic neuroendocrine tumours.  A clinical diagnosis of MEN-1 is reached in the presence of 2 out of 3 or 1 of these tumours in the context of a family history of MEN-1.  The prevalence of MEN-1 is 1:10 000.  It is an autosomal dominant condition with an estimated penetrance of 98% by age 40 and due to a mutation in the MEN-1 gene.  Genetic testing is only approximately 85% sensitive, as in our case, where testing was negative. Other tumours and lesions are associated with MEN-1.  This includes; adrenal cortical tumours, carcinoid tumours, lipomas, pheochromocytomas, malignant melanoma, testicular teratoma and multiple (>3) angiofibromas.  To date there has not been to our knowledge an association with MPNSTs, otherwise known as schwannomas.    It is important to clinically consider the variety of associations with MEN-1, including the unusual, particularly given the malignant behavior, with poor clinical outcome and difficulty obtaining disease control despite surgery and radiotherapy.

  1. Wass JAH et al. Oxford Textbook of Endocrinology and Diabetes. Second Edition. Oxford University Press 2011.