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

AbstractThe 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 withTSC2 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 aTSC1 variant and a PNET. This case highlights the association ofTSC1 gene variants with these tumors and emphasizes the importance of considering such diagnoses in this patient population.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research