Pancreatic neuroendocrine tumor in an individual with Von Hippel Lindau syndrome. A case report and review literature

Sandip Ganguly, Linu A Jacob, Siddhartha Biswas, K C Lakshmaiah


Von Hippel Lindau (VHL) disease is a heritable cancer syndrome characterized by VHL gene mutation in 3p chromosome. Mutations occur at the exons. Rarely mutations at introns have been reported. It leads to accumulation of Hypoxic ischemic factor α (HIF α) which in turn leads to uncontrolled cellular proliferation. Few reports of pancreatic neuroendocrine tumors (PNETs) are there in the literature. Most of them are associated with a mutation in the exon of VHL gene. Association with intron mutation is not there. Here we are reporting a case of PNET in a patient who has a simultaneous mutation both at the exon and the intron.


Pancreatic Neuro Endocrine; Von-Hippel Lindau; Sunitinib

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International Journal of Cancer Therapy and Oncology (ISSN 2330-4049)

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