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BETA - What is a 1q gain? How does this affect risk of progression?
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• March 15, 2024
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[Music] what is a 1q gain chromosome 1 is actually the largest chromosome of our chromosomes in the body and our tumor cells can have different types of mutations so one cube gain is actually a mutation that affects quite a large part of our genetic material in these tumor cells it means that this tumor material is just copied where normally the chromosomes have two arms or the material is there in two copies it's getting copied more times so that there are actually three or four copies of the same genetic information from that region in one queue it's quite a complex story i think it's still something that is uh the area of very very intense research at the moment how cells can survive that suddenly whole areas of the chromosomes are just changed are just having more copies around because actually this is this is quite challenging if you think about basic biology but what the thinking is is that there are lots of genes on chromosome 1 that actually help the cell divide faster adapt faster to changes in its environment so the thinking is that the more of these genes the more copies of these genes around the more these cells are fit to survive in the bone marrow space now we do see and we do see that even in longitudinal analyses that some of the tumor cells seem to be really addicted to these genes on the one q area and some tumors start with just three copies to just one extra copy but they then acquire yet an extra copy later on so the same material copies itself yet once more to four copies or even five or six copies um that is on the one inside of course very exciting because it shows that this is a biologically important region but from a testing perspective of how we talk about it it makes it a little bit more difficult because one a one q gain or one q copy number change doesn't mean necessarily the same thing so we do see with some of the analysis that the more copies that cell has already acquired the more aggressive the tumor may be so if there is a higher copy number it may mean that the tumor can grow and proliferate yet faster than the one with three copies but at least from our data set we do see that already the tumors that have only one extra copy so the three copy ones do behave differently and that their disease normally comes back earlier than in those with the normal 1q copy number but we do see as well that some of the strategies such as maintenance therapy for example just with revlimid can help for those with just one copy number change already quite dramatically it can extend the progression free time really really quite substantially for those which was just one high risk operation so one one of the mutations that is often seen in multiple myeloma is one q gain or a mutation in the chromosome one and specifically in the portion of the q so the chromosome is almost like an x and it has short arms and long arms and the short arm is called p and the long arm of the chromosome is called q so when you hear the word one q gain it means that the that that cell that that cancer cell has an extra copy of that part of the chromosome the one q is a 1q game the same as an amplification of one queue now some people will say one queue gain and others will say one queue amplification one q gain if we look at the strict sense of the word means that you just have one extra copy so three copies of that chromosome if you have amplification it means that you have four or more copies of that chromosome we use it a lot of times interchangeably but the more copies you have at that chromosome the more effect it's going to have depending on what chromosome it is that you have a nexus is what genes it contains and the functions that those genes those genes have are going to impact your cell and specifically the myeloma cell and this is going to then cause a shorter progression-free survival which means that if you have this mutation there's a higher chance that your disease is going to want to come back sooner and that you're going to need treatment quicker rather than somebody who doesn't have it this gene the 1q gain is seen in newly diagnosed patients between 20 to 50 percent of the cases so it's a common gene that we see in multiple myeloma and we see that despite of doing induction treatment and doing a stem cell transplant it still doesn't impact the effect it has in terms of the duration of the remission so this gene has been as we learn more about it we're realizing that it's actually turning out to be a predictor of high-risk disease and it's also telling us that people who have this gene despite of having undergone a stem cell transplant are still more likely to relapse after um once they're on maintenance therapy or in remission than somebody who does not have this gene [Music]

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