I was wondering if many people have had their blood tested for several of the mutations that might drive progression and what their understanding/experience of it all is? My doctors said the science around NGS and MPNs is still a little fuzzy but that it's worth knowing about certain mutations, particularly ASXL1, as they can contribute towards overall prognosis.
My results came back on Monday and I think they seemed pretty good. My Jak2+ allele burden is 40%, which I think is higher than average for ET but still on the lower end of the scale. Does this change with time or remain pretty stable as a rule?
They also said there were no other mutations to worry about - again, this sounds very reassuring, but could this change at any moment? (whenever I hear positive news I just want to breath a sigh of relief and get out of the room, so typically forget to ask these questions!).
Tim
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They just said there were certain features that are more like MF or PV but that overall it seems like ET. For example my spleen is extremely large for ET (22cm) although that’s not unheard of. It’s possibly early cellular phase MF although doc wasn’t keen on that term and thinks it could still end up playing out as classic ET.
Worth having a read about the tests - it’s quite interesting. I think they’re called passenger mutations as opposed to driver mutations like Jak2 and Calr. Seem to reveal a bit about likelihood/speed of progression.
Have you had a BMB. Any positive news is a bonus as far as I am concerned. Hoping a cure or drug to stop progression is available soon for everyone with MPN's .
Good luck with it all. It’s strange because it’s not something you can feel or have a sense of - genetic mutations are so abstract! Let me know how you get on
No, I agree you can’t feel the mutations but I can feel the effects of the advance of the disease. I will let you know what comes of it. I was lucky enough to see Claire Harrison last month and she ordered the tests.
Re your Allele Burden, the link I posted earlier re PV Presentation says over 50% a risk factor.
I’ve recently had a 34 panel chromosome test tailored to identify MF risk factors. I believe it will focus on high molecular risk (HMR) genes ASXL1, EZH2, IDH1/w and SRSF2 which are associated with inferior MF prognosis.
It may even give a steer as to possible effectiveness of Jakafi.
I’m not sure why I’ve done this since imo principle benefit is deciding when to time a SCT and hopefully I’m at least a few years from that. Since these mutations can still develop, I’d need another test at that time.
However I feel that for various other reasons, I’m at a higher risk of progression than most PV’ers so would like to determine whether or not this is another risk factor. If yes, I will be more proactive re monitoring via BMBs, upping my Peg and seeing if I can start low dose MXT.
I will post very interesting video re SCT, explaining how to decide the timing if one has to take the plunge. These genetic tests are then critical. The video is reassuring in that SCT prognosis is not affected by these dodgy genes, providing SCT is not left too late.
Thanks Paul. My doc wanted to run the tests to get a better steer on how far along things are progressing. The more data the better I guess. Not sure about this but I think they’re going to do the tests routinely to check for new mutations. So good to know where you’re at even if not considering a SCT in immediate future. How are you finding the Peg? I keep reading about how most people with ET should be considering it early on, but nobody has mentioned it to me - only hydroxurea and ruxolitinib. And yet they don’t seem to have any or much effect on progression and my counts are all fine at the moment. I might ask whether I should be considering it. I’m on aspirin and watch and wait at the moment.
Just a note on Peg - it seems that in the U.K. treatment still leans on HU, Anagrelide, and RU. Some PCTs (or whatever they’re called now!) offer Peg, but not all of them. Apparently it’s an expensive drug so if you want it, push for it.
I am a clinical nutritonist and specialise in Jak conditons and genetics. Genetic sequencing can provide so much useful information as there are so many confounding factors. For example you may have mutant Jak2 upreg genes but also mutiple downreg jak2 genes. Also an upregultion of SOCs can play a significant protective part and stat genes can play a part in differentiation between PV and ET. The analysis really helps a functional medicine practitioner like myself know what needs to be targeted for effective treatment.
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Just another update
Mutations 
Why do we have mutations?
