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

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Abstract

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.

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Authors and Affiliations

  1. University of New Mexico School of Medicine, Albuquerque, NM, USA

    Parisa Mortaji

  2. Department of Surgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

    Katherine T. Morris

  3. Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM, USA

    Von Samedi

  4. Department of Radiology, University of New Mexico School of Medicine, Albuquerque, NM, USA

    Steven Eberhardt

  5. The University of New Mexico Comprehensive Cancer Center, 1201 Camino de Salud, MSC07 4025, Albuquerque, NM, 87131, USA

    Shawnia Ryan

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  1. Parisa Mortaji
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  2. Katherine T. Morris
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  3. Von Samedi
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  4. Steven Eberhardt
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  5. Shawnia Ryan
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Correspondence to Shawnia Ryan.

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Mortaji, P., Morris, K.T., Samedi, V. et al. Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature. Familial Cancer 17, 275–280 (2018). https://doi.org/10.1007/s10689-017-0029-3

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  • DOI: https://doi.org/10.1007/s10689-017-0029-3

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