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

Williams, Alexander J.; Doherty, Emily S.; Hart, Michael H.; Grider, Douglas J.

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.author	Williams, Alexander J.	en
dc.contributor.author	Doherty, Emily S.	en
dc.contributor.author	Hart, Michael H.	en
dc.contributor.author	Grider, Douglas J.	en
dc.date.accessioned	2018-04-30T12:33:07Z	en
dc.date.available	2018-04-30T12:33:07Z	en
dc.date.issued	2018-03-25	en
dc.date.updated	2018-04-29T08:40:10Z	en
dc.description.abstract	Gastrointestinal 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.version	Published version	en
dc.format.mimetype	application/pdf	en
dc.identifier.citation	Alexander 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:10.1155/2018/4319818	en
dc.identifier.doi	https://doi.org/10.1155/2018/4319818	en
dc.identifier.uri	http://hdl.handle.net/10919/82940	en
dc.language.iso	en	en
dc.publisher	Hindawi	en
dc.rights	Creative Commons Attribution 4.0 International	en
dc.rights.holder	Copyright © 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.uri	http://creativecommons.org/licenses/by/4.0/	en
dc.title	Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation	en
dc.title.serial	Case Reports in Medicine	en
dc.type	Article - Refereed	en
dc.type.dcmitype	Text	en