Title |
Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature
|
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Published in |
Familial Cancer, September 2017
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DOI | 10.1007/s10689-017-0029-3 |
Pubmed ID | |
Authors |
Parisa Mortaji, Katherine T. Morris, Von Samedi, Steven Eberhardt, Shawnia Ryan |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 5 | 20% |
Researcher | 4 | 16% |
Student > Bachelor | 3 | 12% |
Other | 3 | 12% |
Professor > Associate Professor | 2 | 8% |
Other | 4 | 16% |
Unknown | 4 | 16% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 11 | 44% |
Biochemistry, Genetics and Molecular Biology | 5 | 20% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
Agricultural and Biological Sciences | 1 | 4% |
Neuroscience | 1 | 4% |
Other | 0 | 0% |
Unknown | 6 | 24% |