An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

Hereditary Cancer in Clinical Practice
S R PistoriusH K Schackert

Abstract

Ganglioneuromatous polyposis (GP) is a very rare disorder which may be associated with other clinical manifestations and syndromes, such as Cowden syndrome, multiple endocrine neoplasia (MEN) type II and neurofibromatosis (NF) 1. The risk for malignant transformation of ganglioneuromas is unknown, and the combination of GP with colon cancer has been only very seldom reported. We report the case of a 60-year old male patient with adenocarcinoma, adenomas and lipomas of the colon and multiple gastroduodenal lesions combined with generalised lipomatosis and macrocephaly. Based on the initial endoscopic and histological findings, a (restorative) proctocolectomy was recommended but declined by the patient. Instead, a colectomy was performed. The histological examination revealed an unforeseen GP in addition to the colon cancer. Extensive molecular diagnostics allowed for the differential diagnosis of the causes of the clinical manifestations, and the clinical suspicion of Cowden syndrome could not be confirmed using Sanger Sequencing and MLPA for the analysis of PTEN. Finally, a pathogenic germline mutation in PTEN (heterozygous stop mutation in exon 2: NM_000314 (PTEN):c.138C > A; p.Tyr46*) could be detected by next-generation sequ...Continue Reading

References

Oct 1, 1984·The American Journal of Surgical Pathology·N WeidnerF A Mitros
Jul 1, 1984·The American Journal of Surgical Pathology·G Mendelsohn, M P Diamond
Feb 1, 1981·American Journal of Clinical Pathology·D C SnoverH W Sumner
Mar 1, 1994·The American Journal of Surgical Pathology·K M Shekitka, L H Sobin
May 13, 1999·European Journal of Gastroenterology & Hepatology·R MacenlleC Miranda
Jun 29, 2004·Annales de pathologie·Sophie MichalakJean Boyer
Apr 7, 2005·Digestive Diseases and Sciences·Shazia RafiqMichael D Sitrin
Mar 3, 2006·Clinical Chemistry·Ching-Wan Lam, Chloe M Mak
Nov 9, 2006·Archives of Pathology & Laboratory Medicine·Owen T M Chan, Parviz Haghighi
Mar 21, 2013·American Journal of Medical Genetics. Part a·Anna VinitskyElizabeth W McPherson
Apr 5, 2013·World Journal of Gastrointestinal Oncology·Maria Teresa Herranz BachillerManuel Perez Miranda
Oct 19, 2013·Journal of the National Cancer Institute·Robert PilarskiElizabeth Swisher
Mar 4, 2014·World Journal of Gastroenterology : WJG·Peter P StanichMarty M Meyer
Jun 15, 2014·Digestive Diseases and Sciences·Qi-Ming WangBing Hu
May 30, 2015·Breast Cancer Research and Treatment·Christopher SchroederAndreas Rump

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Citations

Mar 25, 2017·QJM : Monthly Journal of the Association of Physicians·U MasoodU Murthy
Jan 23, 2021·Pathology, Research and Practice·Giovanni InnellaDaniela Turchetti

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Methods Mentioned

BETA
biopsies
biopsy
prophylactic procedure

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