Anne Marie Jelsig 08/02/2016
Presentation of Ph.D.-project February 2013:
Hamartomatous polyps – a clinical and molecular study
Ph.d.-student: Anne Marie Jelsig, M.D.
Department of Clinical Genetics, Odense University Hospital/Department of Surgery Odense
University Hospital
Duration of project: 1 of September 2012 to 31 of August 2015
Introduction: In Denmark, both children and adults, experiences detection of one or more polyps
in the Intestinal Channel. We know that a specific subtype of polyps - the hamartomatous polyps –
can be manifestations of a genetic Hamartomatous Polyposis Syndrome. However, patients are
usually first genetically tested when they have many polyps or other symptoms that raises
suspicion of a syndrome. Patient with a genetic syndrome may be at risk of developing several
types of cancer requiring special surveillance.
Hypothesis: The diagnosis of a Hamartomatous Polyposis Syndrome may be missed in several
patients.
Material and methods: In this project we’ll investigate whether patients, with one or more
hamartomatous polyps in the Intestinal Channel, have mutations in genes associated with
hamartomatous polyposis syndrome and other syndromes such as neurofibromatosis type 1,
Gorlin Syndrome etc.
About 100 patients with harmatomatous polyps will be included, and asked to give a blood sample
for genetic testing. The patients will be informed on possible consequences of genetic testing with
Next Generation Sequencing. Based on the results we’ll evaluate whether patients with these
polyps should be offered surveillance.
Perspective: As part of the project we will develop clinical guidelines in the area and we’ll include
epidemiological data on this group as well. With this project, we’ll hopefully increase knowledge of
these polyps and thereby provide the patients a more evidence-based follow-up.
Supervisors and partners:
Mail superviser: Lilian Bomme Ousager, MD, Dept. Of Clinical Genetics, OUH
Niels Qvist, professor, MD, Dept. of Surgery, OUH
Klaus Bruusgard, molecular biologisk, Dept. of Clinical Genetics, OUH
Tine Plato Hansen, MD, Dept. of Pathology
Inge Bernstein, MD, HNPCC-register, Dept. Of Surgery, Hvidovre Hospital
Claus Buhl, MD Dept. Of Surgery, Hvidovre Hospital
Steffen Husby, Professor, MD, Dept. Of Paediatrics, OUH