Got my latest lab results. Allele burden is now 1,6%, was 1,0% three years ago. Slightly relieved, although I am afraid the growth is probably closer to exponential rather than linear. Has anyone more measurement points to share?
My platelets have stagnated to 500 for a couple of years now, which is good.
I am pretty sure that Besremi could still take me to minimal residual desease, but unfortunately I don’t have access to it.
Cheers,
Bigcheat
Why can’t you be prescribed with Besremi anymore?
I probably was not too clear in my opening post. I have not received any other treatment than baby aspirin. In my country, I am classified as low risk until I turn 60 and then I am all of a sudden high risk. Not sure if even then they would cover Besremi if no clots have occurred.
Cheers,
Bigcheat
That is really not a significant increase in what is a very low allele burden. Some people just slowly perk along for many years with a gradual increase in MAB. People can slowly progress until something happens to trigger a rapid progression in MAB.
Here is what my numbers look like
03/20/19 = 25%
09/28/20 = 26%
10/23/20 = 29%
05/19/21 = 38%
05/19/21 Started on Pegasys
02/02/22 Switched to Besremi
12/02/22 – 09%
This is a case of the interferons clearly reducing allele burden. My MPN Specialist and I are in agreement that this is a good thing. We just do not know yet how good that good is.
All the best.
Thank you Hunter for sharing your data. I am glad Besremi has worked for you! It is encouraging to know that there is a drug that can potentially reverse the desease progression.
I hope your trend continues,
Bigcheat
What is an allele burden? I looked at all my labs and see no mention of it,
Thank you, Eileen
The Mutant Allele Burden, also known as Variant Allele Frequency, is the percentage of cells that carry the mutation. Not all of the hematopoietic stem cells have the mutation. Some are wild-type (normal).
Allele burden is thought to tend to correlate with symptom burden and progression. Emphasis here is on the word tend. The actual significance is more complex than just the number.
There are two types of tests for the JAK2 or other mutations. The Qualitative test gives a YES/NO answer. The Quantitative test measures the percentage of cells that have the mutation.
There is ongoing discussion and debate about the significance of allele burden. Hopefully we will learn more over time. My own thought based on the research and my own experience is that less mutation is better.
Hope that answers your question.
Don't forget Pegasys interferon is 3-4 times less expensive than Besremi and also capable on inducing Minimal Residual Disease in 20-30% of treated PV patients and normalized blood counts in a majority of them.
Just as I started on Pegasys in September, I had the JAK2 allele burden measured for the first time: 79% !! I honestly could not believe it. Now waiting to see whether the Peg works for me and I will get tested again in the coming months. I am well aware that we are in the early days of understanding the impact of our genes and that there are many mutations at play, but still, that figure is the one factor of worry. Fingers crossed.
It is true we don’t understand very well our genes and how allele burden correlates with symptoms. Good that you are receiving treatment. Thanks for sharing.
Bigcheat
Hi, I was diagnosed with ET in 2018, my Jak2 AB was 27% at that time. I apparently progressed to PV in 2021, my AB in March of 2021 was 50%. I would like to know if the HU I have been taking since becoming PV has had any effect on the AB after about 20 months of taking HU. I think it is supposed to lower the AB for about the first 2 years and then it reverses and increases. Hoping yours stays low. Best to you going forward.
Thanks for sharing your story. Would be nice to learn how it proceeds.
Bigcheat
Thanks for your post -I'm wondering if you might be able to point me in the direction of evidence suggesting hydroxy can reverse the reduction of AB in time? This is the first time I have heard this. I would like to read about this before my next haem consultation.
I think the graphs showing the reduction of AB and the comparison of HU and Inf in reducing the AB was from the Proud PV and the Continuation PV studies. If I remember right they are about equal for the first 2 years and then the AB starts going back up with HU while INF keeps reducing the AB. I don't think this happens in all patients but does in many. I don't keep all this info just try to remember it. I think that info might have been posted on this forum by EPguy, maybe you could send him a private message and he can send you the info. It is probably available on this site but I don't know how to retrieve it. Best to you.
I envy your stats, Bigcheat, and wish you luck.
My oncologist said he did not know my allele burden, but I see this number on my blood test showing JAK2 V617F mutation. Under "mutation frequency" is says 29.7.Could that be AB?
Exon 14 (location??) is notated, but not explained.
Where to get a Allele burden (quantitive) Jak2 (V617F)
Is JAK2 Allele Burden Monitoring routinely done?
JAK2 Allele Burden
JAK2 Allele burden 17%
