Pancreatic Neuroendocrine Tumors in Patients With Tuberous Sclerosis Complex

Clin Genet. 2012 Dec;82(6):558-63. doi: 10.1111/j.1399-0004.2011.01805.x. Epub 2011 Nov 29.


We explored pancreatic neuroendocrine tumors (PanNETs) associated with tuberous sclerosis complex (TSC) to determine their incidence in the TSC population; define their clinical, radiological, and pathological characteristics; and investigate their association with underlying genotypes. Retrospectively reviewed abdominal imaging of 219 patients with TSC, evaluating the incidence, size, and architecture of pancreatic lesions. Pathology records at Massachusetts General Hospital (MGH) were reviewed for all PanNET diagnoses in patients with TSC. Literature was reviewed for TSC-related PanNET cases. Nine patients with TSC were found to have a pancreatic lesion(s) on abdominal imaging and six patients have been diagnosed with a PanNET by pathology at MGH. Twelve cases of TSC-associated PanNETs have been reported in the literature. Of these 18 PanNET cases, one third were cystic, and the average age at resection was 26 years. Germline TSC2 mutations were found in all patients for whom genetic data were available (n = 3). We did not identify pancreatic angiomyolipomas in this series. Our results suggest that PanNETs are the most common pancreatic lesion in patients with TSC. Focal pancreatic mass lesions, solid or cystic, in patients with TSC should be considered possible PanNETs, and resection of the lesion may be clinically indicated.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Female
  • Germ-Line Mutation / genetics
  • Humans
  • Incidence
  • Male
  • Massachusetts / epidemiology
  • Middle Aged
  • Neuroendocrine Tumors / diagnostic imaging*
  • Neuroendocrine Tumors / epidemiology*
  • Neuroendocrine Tumors / genetics
  • Pancreatic Neoplasms / diagnostic imaging*
  • Pancreatic Neoplasms / epidemiology*
  • Pancreatic Neoplasms / genetics
  • Tomography, X-Ray Computed
  • Tuberous Sclerosis / diagnostic imaging*
  • Tuberous Sclerosis / epidemiology*
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics*


  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins