@article {LOPEZ115, author = {CHRISTIAN LOPEZ and MOHAMMAD ABUEL-HAIJA and LUIS PENA and DOMENICO COPPOLA}, title = {Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma}, volume = {15}, number = {2}, pages = {115--120}, year = {2018}, publisher = {International Institute of Anticancer Research}, 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{\textquoteright}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.}, issn = {1109-6535}, URL = {https://cgp.iiarjournals.org/content/15/2/115}, eprint = {https://cgp.iiarjournals.org/content/15/2/115.full.pdf}, journal = {Cancer Genomics \& Proteomics} }