Familial Cancer

, Volume 17, Issue 2, pp 275–280 | Cite as

Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature

  • Parisa Mortaji
  • Katherine T. Morris
  • Von Samedi
  • Steven Eberhardt
  • Shawnia Ryan


The majority of pancreatic neuroendocrine tumors (PNETs) are sporadic while 10–15% are attributable to one of several familial cancer syndromes. Hereditary forms are more commonly associated with Multiple Endocrine Neoplasia Type I and von Hippel Lindau Syndrome. However, patients with Tuberous sclerosis complex also have an increased incidence of PNETs. More often this has been reported in patients with TSC2 variants. In this case report, we summarize the literature regarding PNETs associated with Tuberous sclerosis complex, as well as present a case of a patient with a TSC1 variant and a PNET. This case highlights the association of TSC1 gene variants with these tumors and emphasizes the importance of considering such diagnoses in this patient population.


Hereditary cancer syndromes Pancreatic neuroendocrine tumors TSC1 Tuberous sclerosis complex 


Compliance with ethical standards

Conflict of interest

The authors do not identify any conflicts of interest.


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Copyright information

© Springer Science+Business Media B.V. 2017

Authors and Affiliations

  1. 1.University of New Mexico School of MedicineAlbuquerqueUSA
  2. 2.Department of SurgeryUniversity of Oklahoma Health Sciences CenterOklahoma CityUSA
  3. 3.Department of PathologyUniversity of New Mexico School of MedicineAlbuquerqueUSA
  4. 4.Department of RadiologyUniversity of New Mexico School of MedicineAlbuquerqueUSA
  5. 5.The University of New Mexico Comprehensive Cancer CenterAlbuquerqueUSA

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