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01.12.2016 | Case report | Ausgabe 1/2016 Open Access

Hereditary Cancer in Clinical Practice 1/2016

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

Hereditary Cancer in Clinical Practice > Ausgabe 1/2016
Steffen Pistorius, Barbara Klink, Jessica Pablik, Andreas Rump, Daniela Aust, Marlene Garzarolli, Evelin Schröck, Hans K. Schackert
Wichtige Hinweise

Competing interests

The authors declare that they have neither financial nor non-financial competing interests.

Authors’ contributions

SP performed the clinical counselling and the surgical procedure in the patient, oversaw his surveillance and drafted the major part of the manuscript. BK performed the genetic counselling of the patient, provided Figs. 1 and 8, supervised and performed the molecular analyses and drafted an important part of the manuscript. JP performed the histological examinations, provided Figs. 6 and 7 and drafted a substantial part of the manuscript. AR evaluated the results of the molecular analyses, was responsible for the establishment of the next generation sequencing, provided Fig. 8 and helped to draft the manuscript. DA carried out the immunohistochemical analyses, confirmed the diagnosis of the ganglioneuromatous polyposis and helped to draft the manuscript. MG performed the dermatological examination of the patient, provided Figs. 2 and 3 and drafted a substantial part of the manuscript. ES was responsible for the next generation sequencing analyses in this patient and helped to draft and revised the manuscript. HKS summarized and interpreted the generated data and helped to draft and revised the manuscript. All authors read and approved the final manuscript.

Authors’ information

SP MD, Consultant of Visceral Surgery, former assistant director of the University Cancer Center (UCC) Dresden, Outpatient Clinic for Hereditary Gastrointestinal Tumors
BK MD, Consultant of Clinical Genetics
JP MD, Consultant of Pathology
AR PhD, Molecular biologist, Head of the section for molecular analyses of the Institute of Clinical Genetics
DA MD, Consultant of Pathology, assistant Head of the Institute of Pathology
MG MD, Consultant of Dermatology
ES MD, Professor, Head of the Institute of Clinical Genetics
HKS MD: Professor, Head of the Department of Surgical Research and the Outpatient Clinic for Hereditary Gastrointestinal Tumors



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.

Methods and results

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 sequencing (NGS), confirming an unusual presentation of Cowden syndrome with GP.


Cowden 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.
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