NUT Carcinoma may not be as rare as one thought. Jia Luo, MD, of Dana-Farber, shares new efforts to research this type of rare cancer that can grow anywhere in the body, often in the head, neck and lungs.
Not carcinoma is a very aggressive, poorly differentiated squamous cell cancer of either non small cell lung cancer origin or thoracic or head and neck origin. The International Not Carcinoma Registry really see to have patients contribute their data. Uh So we we can learn more about not carcinoma. One thing to know about this cancer is we believe it is super under diagnosed. The actual incident based on several publications is over 1000 cases in the US per year alone. This poster specifically, we sought to answer two questions that are unanswered in the field. First. Why are these cases being underdiagnosed? What about standard DNA based next generation sequencing testing are these cases being picked up? Um And our second question is to look at co occurring mutations that exist in this cancer. And what we found from looking at the nut carcinoma registry is number one, it turns out over 75% of cases of nut carcinoma are simply being missed by standard care DNA based next generation sequence testing. When we looked a little further into one of the reasons this might be happening, it turns out over 50% of assays, whether they're developed in commercially or academic simply don't test for not fusions at all, which is Pat and mnemonic for this diagnosis. And so, um we should encourage individuals who uh see patients who either have a poorly differentiated or squamous cell cancer of lung or head and neck origin to really think about not carcinoma and consider either standard of care, uh NG SRN A fusion uh IHC or not fish testing because this is, this cancer is being missed by a lot of individuals. And then secondly, when we looked at co occurring mutations, we noticed that they were enriched in epigenetic DNA repair and cell cycle mutations. And this is definitely of interest given the fusion oncogene is an epigenetic driver. Um Further functional classification will be needed uh for these co occurring mutations. But this is the first uh look into molecular characterization.
