Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation

dc.contributor.authorWilliams, Alexander J.en
dc.contributor.authorDoherty, Emily S.en
dc.contributor.authorHart, Michael H.en
dc.contributor.authorGrider, Douglas J.en
dc.date.accessioned2018-04-30T12:33:07Zen
dc.date.available2018-04-30T12:33:07Zen
dc.date.issued2018-03-25en
dc.date.updated2018-04-29T08:40:10Zen
dc.description.abstractGastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis. A diagnosis of diffuse ganglioneuromatosis is relevant for patient care because, unlike sporadic polypoid ganglioneuromas or ganglioneuromatous polyposis, most are syndromic. Diffuse ganglioneuromatosis is commonly associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2b, and Cowden Syndrome, one of the phenotypes of PTEN hamartoma tumor syndrome. The patient had the noted gastric diffuse ganglioneuromatosis, as well as other major and minor criteria for Cowden syndrome. Genetic testing revealed a novel frameshift mutation in the PTEN gene in the patient, her father, paternal aunt, and the aunt’s son who is a paternal first cousin of the patient.en
dc.description.versionPublished versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationAlexander J. Williams, Emily S. Doherty, Michael H. Hart, and Douglas J. Grider, “Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation,” Case Reports in Medicine, vol. 2018, Article ID 4319818, 6 pages, 2018. doi:10.1155/2018/4319818en
dc.identifier.doihttps://doi.org/10.1155/2018/4319818en
dc.identifier.urihttp://hdl.handle.net/10919/82940en
dc.language.isoenen
dc.publisherHindawien
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.rights.holderCopyright © 2018 Alexander J. Williams et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.en
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.titleDiffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutationen
dc.title.serialCase Reports in Medicineen
dc.typeArticle - Refereeden
dc.type.dcmitypeTexten
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