eli5: fgfr fusions


Currently working on an oncology presentation. Our professor assigned us a chemotherapy and we have to do in-depth research on it (indications, mechanism of action, etc). The drug I was assigned specifically is used for FGFR2 fusions. I’ve scoured through Pubmed, BioMed, and various oncology journals and I cannot get a straight answer as to what an FGFR fusion even is. All I’m getting is that it can amplify FGFR signaling, leading to proliferation, which I understand. I just don’t want to get to my presentation and my professor ask what an FGFR fusion is and I have no idea how to respond

Hopefully someone here is knowledgeable on this! Thanks!

In: 3

Our cells work based on DNA that tells them how to make more cells. Gene fusion is when chunks of that DNA that got merged together somehow. Genes have weird names. One specific type of gene fusion, called FGFR2, causes cells to make more cells way too much. That’s what cancer is.

A fusion gene is essentially what you get when a piece of one gene ends up fused to another following some manner of translocation.

The textbook example is BCR-ABL, which is a hallmark of chronic myeloid leukemia. The result is a tyrosine kinase with very strong proliferative signaling, with its usual regulatory bits swapped to something that’s always on.

Reading through [this paper](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555921) about FGFR fusion, it’s actually very similar — the common factor to the described type I and II fusions is FGFR’s tyrosine kinase domain being disconnected from its normal regulation.

Good luck!