No mutant burden

[Photoshopuser]

I am new to this and was reading some old posts. There was one discussing mutant burden and what this might mean. I am looking at my Jak2 study results where is positive "for detection of the V617F mutation." But there is no mention anywhere of mutant burden. Does the test need to be redone to get that? Thanks for your help.

[mhos61]

I’m in pretty much the same boat. It states on my original report that V617F mutation has been detected at more than 1%. Apparently anything more than 1% is positive for an MPN. I’d love to know what my percentage is though. I have asked this at clinic but they can’t find ANY details at all now! It’s worth asking next time you’re at clinic if they have knowledge of your Jak 2 burden percentage.

I suspect I’d probably have to pay private for this test now.

[Wyebird]

I asked my heamo about mine. She just said my records don’t indicate it and left it at that.

[Cando67]

I too am positive for the V617 F within the Jak2 mutation.I was not given a percentage just a positive.

[hunter5582]

There is a more specific test to get this information. JAK2 Mutation Quantitative Analysis (or similar). What this is getting at is that the JAK2 gene is comprised of a set of alleles. the more alleles that are mutated - the higher your mutant allele burden. Less than 50% is predictive of a milder course of the MPN. It does have a bearing on your prognosis and treatment. You will likely have to ask specifically to get this test done. Bear in mind that most docs, even hematologists, only see a handful of MPN cases. They are not always on top of things like this. You may need to consult with an MPN expert to get what you need. This is a list of patient-recommended docs with MPN expertise mpnforum.com/list-hem/ . it is worth the time, effort and expense even if you have to travel to find a MPN-knowledgeable doc. All the best.

[Photoshopuser in reply to hunter5582]

Thank you! This is very helpful I agree knowledge is power. At the very least it helps me to know what questions to ask.

[hunter5582]

Here is a bit more info

JAK2 = Janus Kinase 2 gene. The JAK2 gene is comprised of a set of alleles. When some of these alleles become mutated, then you are JAK2+ - typically results in either ET or PV. The percentage of the alleles that are mutated = JAK2 Mutant Allele Burden. Speaking broadly, people with a JAK2 burden less than 50% will have a milder course of the MPN. There are a number of factors why this is so. JAK2 signaling drives hematopoiesis (thrombocytosis, leukocytosis, erythrocytosis). It is also thought to trigger thrombosis. Emerging research is focusing on the role JAK2 signaling play in increasing the production of inflammatory cytokines. The cytokines appear to be responsible for many of the secondary symptoms we all experience. Here is one reference about the JAK2 Mutant Allele burden. bloodjournal.org/content/13... . Here is a reference to the role of inflammatory cytokines in MPNs ncbi.nlm.nih.gov/pmc/articl... . There is a lot more out there on these topics. Takes a bit of effort to find the information - but knowledge is power and worth the effort. Hope this helps.