As MDS genetic, should my family be tested if I am diagnosed? Typically it's not considered a genetic disease. And as it is a disease of aging, I think the easiest description, although not scientifically the most accurate, is dumb luck. So all of us acquire mutations over our lifetime. And it is getting an array of mutations and dysfunction in our body over time that usually precipitates as MDS. That being said, there are very, very rare cases of hereditary factors that can lead to MDS development. To make a really informed decision about whether someone needs additional testing or not, it's important to talk to the provider in particular, given the rarity of the situation. That's a new hot topic. We used to, when I first started taking care of patients with MDS, we always told them no. But that's because we didn't have a good way to check for that. Well, since the Human Genome Project, we can rapidly test someone's genes to see if they have mutations. So that's one of the most times MDS is not inherited. But there is now in the World Health Organization familial MDS and AML as a category, which tells us, OK, we figured out there are certain mutations that can be inherited and passed on through generations. And some of those are GATA2, we know, ETV6. I remember the first time I had a patient with that myeloid mutation. And we didn't know what it meant. But now we know a lot more because the internet and the research is, we're making good strides now that we can combine databases together and take a look at that. The GATA mutations, there's RUNX1 and some of the TP53 mutations. So it's a small sliver of our MDS, of patients that develop MDS. And one of the ways, though, you can figure it out is ask them if anybody in their family has had MDS or AML. And you might get a hint before you get your blood work back. There's different techniques where we use a next generation sequencing myeloid mutation panel. And that can be done on blood, but also on the bone marrow. From the liquid part of the bone marrow, the aspirate, you can check for those mutations. And the results are more sophisticated than they used to be, where they'll tell you the patient has this many mutations. And then of those, which ones are likely related to their disease and that we have prognostic information on it. So that's an evolving science. The new hot one that's been in blood recently is the DDX41. So we've had lots of discussion in our tumor boards about the DDX41. But that's an inherited one for MDS and AML. What we would normally do is we have a genetic counselor, and we refer them there. There was a patient in a support group I was in on Saturday who had a GOTATU, I think, mutation. And he went and had all of the additional testing to see if he could pass that on to his kids. Unfortunately, he didn't. But you don't know if you don't send them to someone who is a specialist in that area. So a genetic counselor is who we refer them to if they had a DDX41 or the ETV6. TP53, it depends on where the mutation occurs and whether they had radiation or chemotherapy before because we know that that can be one of the types of mutations you acquire.
HealthTree • May 1, 2023
