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Hereditary Cancer in Clinical Practice

, 14:11

First Online: 10 May 2016Received: 21 March 2016Accepted: 05 May 2016DOI: 10.1186-s13053-016-0051-8

Cite this article as: Pistorius, S., Klink, B., Pablik, J. et al. Hered Cancer Clin Pract 2016 14: 11. doi:10.1186-s13053-016-0051-8


BackgroundGanglioneuromatous 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.

Methods and resultsWe 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 sequencing NGS, confirming an unusual presentation of Cowden syndrome with GP.

ConclusionsCowden syndrome should be considered in cases of GP with extracolonic manifestation and verified by combined clinical and molecular diagnostics. Because GP may represent a premalignant condition, a surgical-oncological prophylactic procedure should be considered. Based on our experience, we recommend early implementation of Panel NGS rather than classical Sanger sequencing for genetic diagnostics, especially if various diagnoses are considered.

KeywordsGanglioneuromatous polyposis Colon cancer Cowden syndrome PTEN germline mutation AbbreviationsF-FDG PET-CTPositron emission tomography with 2-deoxy-2-fluorine-18 fluoro-D-glucose integrated with computed tomography

GPganglioneuromatous polyposis

HNPCChereditary nonpolyposis colorectal cancer

MENmultiple endocrine neoplasia


NGSnext generation sequencing

MLPAmultiplex ligation-dependent probe amplification

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Autor: Steffen Pistorius - Barbara Klink - Jessica Pablik - Andreas Rump - Daniela Aust - Marlene Garzarolli - Evelin Schröck - H


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