Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.

ABSTRACT:

Context

Germline mutations in the phosphatase and tensin homolog (PTEN) tumor suppressor gene are found in the majority of patients with Cowden syndrome (CS), who have an increased risk of breast, thyroid, and endometrial cancer. According to our current understanding of genetic changes in the PTEN gene and the resultant phenotypic features of CS, pancreatic neuroendocrine tumors (NETs) are not considered part of the clinical spectrum of CS.

Case description

We report a unique case of an advanced NET of the pancreas in a patient with CS. The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C→T (p.R233*) causing a premature stop codon in exon 7. The tumor DNA sequencing showed no loss of heterozygosity or any copy number changes

SUBMITTER: Neychev V 

PROVIDER: S-EPMC5393589 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature