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Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma.

Abstract：

BACKGROUND:Cowden syndrome (CS) is a rare autosomal-dominant inherited disorder characterized by multiple hamartomas. While the hamartomas are benign, patients with CS have increased risk of osteosarcoma and of breast, thyroid, endometrial, soft-tissue and colonic neoplasms. Germline mutations of phosphatase and tensin homolog (PTEN) are implicated in CS and in the development of osteosarcoma. We report a patient with CS who presented with osteosarcoma, ganglioneuromatosis and a benign breast mass. Osteosarcoma, as presentation of CS, is rare (only one report in the English literature). Genomic DNA from the patient's peripheral blood was quantified by spectrophotometry, then underwent sequence enrichment, polymerase chain reaction and next-generation sequencing. Molecular analysis revealed a non-synonymous c.17_18delAA frameshift mutation in exon 1 of PTEN and a c.116G>T (p.R39L) missense mutation of serine/threonine kinase 11 (STK11) of unknown significance. CONCLUSION:We report a patient with CS presenting with ganglioneuromatosis, benign breast mass and osteosarcoma, harboring a novel molecular alteration in PTEN which to our knowledge has not been previously reported.

journal_name

Cancer Genomics Proteomics

journal_title

Cancer genomics & proteomics

authors

Lopez C,Abuel-Haija M,Pena L,Coppola D

doi

10.21873/cgp.20069

subject

Has Abstract

pub_date

2018-03-01 00:00:00

pages

115-120

issue

2

eissn

1109-6535

issn

1790-6245

pii

15/2/115

journal_volume

15

pub_type

杂志文章

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