Intestinal ganglioneuromatosis: unusual presentation of Cowden syndrome resulting in delayed diagnosis

American Journal of Medical Genetics. Part a
Anna VinitskyElizabeth W McPherson

Abstract

We report on a 25-year-old woman who presented as a teenager with macrocephaly and multiple gastrointestinal lesions including ganglioneuromas, hamartomas, lipomas, juvenile, and hyperplastic polyps in association with extra-intestinal tumors including a retroperitoneal lipoma, storiform collagenoma, and a fibrolipomatous hamartoma. PTEN mutation analysis identified a deletion in exon 2, confirming the diagnosis of Cowden syndrome. While intestinal polyps are common among Cowden patients who undergo endoscopy, and intestinal ganglioneuromas are occasionally reported, they are not usual presenting manifestations. Intestinal ganglioneuromatosis is divided into three subgroups: (1) polypoid ganglioneuromatosis (usually few isolated ganglioneuromas), (2) generalized ganglioneuromatosis (usually associated with NF1 or MEN), and (3) ganglioneuromatous polyposis without known systemic disease, although there are several reported patients with multiple lipomas. This individual with Cowden syndrome closely resembles the latter group, thus we suggest that patients with ganglioneuromatous polyposis, especially in association with lipomas, should be evaluated for possible Cowden syndrome.

References

Dec 1, 1986·The American Journal of Surgical Pathology·R C Haggitt, B J Reid
Jan 1, 1988·The Journal of Hand Surgery·P C AmadioJ H Dobyns
May 22, 2007·Journal of Clinical Pathology·W I Al-DarajiR B M Ali
Jun 1, 1997·Journal of Genetic Counseling·C Eng

❮ Previous
Next ❯

Citations

Jun 15, 2014·Digestive Diseases and Sciences·Qi-Ming WangBing Hu
May 12, 2016·Hereditary Cancer in Clinical Practice·Steffen PistoriusHans K Schackert
Mar 31, 2017·Journal of Genetic Counseling·Sarah ScollonKami Wolfe Schneider
Jan 23, 2021·Pathology, Research and Practice·Giovanni InnellaDaniela Turchetti

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Related Papers

Archives of Pathology & Laboratory Medicine
Owen T M Chan, Parviz Haghighi
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie
M KüçükaydínM Içer
© 2021 Meta ULC. All rights reserved