It’s estimated that around 5-10% of Neuroendocrine Neoplasms (NENs) have an unknown primary – what that means is cancer cells have been found in the body but the place the cancer began remains unknown. I wrote about this issue in more depth in my article “Needle in a haystack” – you can read that here. In that article you will note that NET specialists through their knowledge and understanding of the behaviour of these comped tumours, can often drill down and gather various pieces of evidence to help narrow down the primary location. However, this new study would indicate they could have access to a new tool to be able to home in on a particular location.
DNA methylation-based profiling is now routinely used in the diagnostic workup of brain tumors but this new research looks useful in augmenting histopathological diagnosis in neuroendocrine tumors. Scientists compiled data of 69 small-intestinal, pulmonary, and pancreatic neuroendocrine tumors. These data built an algorithm (NEN-ID) that predicts the origin of tumor samples with high accuracy (> 95%) and concluded that this DNA methylation-based prediction model can be used in the workup for patients with neuroendocrine tumors of unknown primary. The algorithm also gives indication of inherited predisposition syndromes von Hippel–Lindau disease (VHL) and multiple endocrine neoplasia type 1 (MEN1).
The article from the American Assocation of Cancer Research is a subscription article and is linked below – so will only show an abstract. I also discovered some previous research in this area, but this study is also a paid article, so again, only an abstract. But the abstracts do give useful background. Interestingly the initial research indicates that small intestine, duodenal and pancreatic NENs appear to be the most sensitive.
The first study confirmed the molecular signatures are different in primary NETs and the second study confirmed the results of testing the algorithm to produce a tool called NEN. This is quite exciting news, particularly for those with an unknown primary.
It must be noted, however, that details of routine accessibility of this tool for NET specialists is not yet known.
Distinct DNA Methylation Signatures in Neuroendocrine Tumors Specific for Primary Site and Inherited Predisposition – click here.
Genome methylation accurately predicts neuroendocrine tumor origin – an online tool – click here.
Thanks for reading