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

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

J Clin Endocrinol Metab. 2015 Dec 17;:jc20153684

Authors: Neychev V, Sadowski SM, Jack Z, Allgaeuer M, Kilian K, Meltzer P, Kebebew E

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 LOH or any copy number changes, and no other deleterious genetic alterations including those commonly mutated in sporadic pancreatic NETs; MEN1, ATRX, DAXX, TP53, and genes involved in the mTOR pathway. In addition, the high-throughput transcriptome analyzed by RNA-seq did not reveal any missed genetic alterations, aberrant splicing variants, gene fusions or gene expression alterations. The IHC staining of the tumor for PTEN revealed an abnormal, uniformly strong cytoplasmic staining of tumor cells with virtually absent nuclear staining.
CONCLUSION: The results from genetic testing and histopathological techniques used to confirm CS diagnosis and characterize this unusual tumor tempted us to believe that in this case the pancreatic NET was not a sporadic malignancy that occurred by coincidence, but rather represented a new entity in the spectrum of malignancies associated with CS.

PMID: 26678657 [PubMed - as supplied by publisher]

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