A Correlation of the Endoscopic Characteristics of Duodenal and Ampullary Laterally Spreading Tumours With Their Somatic or Germline Mutations.
Laterally spreading tumours (LSTs), are polyps that have a lateral extension along the
duodenal wall with minimal vertical growth. It has become evident over the last few years
that rather than being a single entity requiring an accumulation of mutations, Duodenal and
ampullary cancer is in fact a heterogenous disease forming via multiple distinct genetic
pathways. It is therefore hypothesised that different polyp types have different genetic
abnormalities, and potentially form via distinct genetic pathways, although this theory has
not been widely examined.
This knowledge would be important in furthering our understanding of the development of
cancer. There is accumulating evidence that genetic abnormalities may be a better predictor
of cancer behaviour than histological grade. Additionally, guidelines for endoscopy
surveillance are currently a one size fits all approach that do not reflect the genetic
heterogeneity of the disease and the knowledge that only 5% of polyps progress to cancer.
Genetic studies may assess future cancer risk to a person in polyps once removed and plan
surveillance endoscopy frequency.
Observational Model: Case Control, Time Perspective: Prospective
Significant differences in molecular abnormalities.
The aim of this project is to look for statistically significant differences in molecular abnormalities from the three known genetic pathways, between the two different morphological types, granular and non-granular, to potentially demonstrate that these different polyps form via different genetic pathways.
Specimens will be stored and used for up to 15 years
Michael Bourke, MBBS, FRACP
Western Sydney Local Health District
Australia: National Health and Medical Research Council