What causes blastic plasmacytoid dendritic cell neoplasm, or BPDCN?
It's a great question about the causality of BPDCN and my team and I and others around the world have been working on this. We still don't know. It's an important and interesting question because it's so rare. Probably the incidence is somewhere around 500, maybe upwards to a thousand patients a year in the US, maybe another 500 to 1000 in Europe. We know it occurs worldwide. So we have had cases and case reports from Asia, Middle East, Africa, Australia, New Zealand, everywhere. So so that part we know.
But two, as you mentioned in these rare and if you will, ultra rare diseases. They're more common than people think. And so I think what part of the problem has been misdiagnosis or not even having the diagnosis or the name, which really has only been crystallized since 2008, really BPDCN, when it was known as other entities before.
So I think my answer is right now, we I don't know the cause of this rare disease, but we do have people working on it all over the world, and we're going to be looking into it. So again, are there environmental causes? Viral and genetic causes, you know, random sporadic causes. We know a lot of these patients will have a preceding CHIP mutation. CHIP or clonal hematopoiesis of indeterminate potential mutation refers to the presence of a change in the normal DNA sequence of blood cells.
And very interestingly, maybe for this audience as we delve into BPDCN, it is apparently a male predominant disease. So 3 to 1 or even up to 5 to 1. So that means in any given cohort you may see up to 80% male and only 20% female. That's fascinating too. Why is that? One study by my colleagues at Dana-Farber implicated the, differential X chromosome biology.
So I think we're getting closer to some etiologies. One of our groups has identified potentially UV light exposure as a risk factor. Make sense? It is a skin predominant disease in many cases. Some of these studies, including ours, have shown problems with the TET2 gene, which can govern a lot of these cell growth situations. So I think we're nearing it, but we don't have a one unifying cause yet for the cause for BPDCN.
I do want to caution, though, that with this nice question and answer, one emerging area then is outside of those common areas. Yes, we are seeing patients who are pediatric younger patients, female patients, patients who don't have skin lesions, patients who only have CSF involvement and bone marrow involvement, but not skin lesions. And we published on all of these permutations. So it's a fascinating unraveling of a emerging area, something that's been around for a while. But probably BPDCN has either been placed under lymphoma, leukemia or even skin cancers. And now I'm glad to see we have our own vocabulary, our own designation, and we'll be able to answer questions like this in the near future, I think.
I don't know that I know of risk factors are known risk factors. It's like for a lot of the malignancies that we see, there's no clear reason why any one of our patients may have it other than sometimes we have therapy related leukemias. So you could put BPDCN in there. But most patients with BPDCN, it don't necessarily have a history of therapy or exposure or toxin or even a family history of it. So I'm not sure that I'm aware of or the medical community really understands, like the why we know that there are a lot of mutations that occur in these BPDCN cells that are common throughout myeloid malignancies like MDS, AML. But the why often escapes us.
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