Allele burden results on Pegasys

[charl17]

After 22 months on Pegasys my Jak2 allele burden has gone from 28% 4 years ago to 24% today. I have pmf and control my blood counts with Pegasys. My counts have been normal for about a year and a half, with the exception of monocytes, which run high. I thought that some people might be interested in this because of the potential for molecular remission with interferon. I don't quite know what to make of this and neither, I suspect, does my mpn specialist. At least things are moving in an encouraging direction.

[Manouche]

Are you homozygous or heterozygous JAK2 ? What’s your Pegasys posology ?

[MPort in reply to Manouche]

Wow these are highly technical words. I return for results of my tests - allele and panel - on 24 November so interested in this. Could you expand their relevance?

Thanks

Mairead

[Manouche in reply to MPort]

It would be interesting to know as it could be a predictive factor to your molecular response.

« It has been found that even low doses of IFNα were effective in targeting homozygous JAK2V617F HSCs, however, high doses (> 100 µg/week) were needed for heterozygous JAK2V617F HSCs. IFNα was least effective in targeting heterozygous CALR-mutated HSCs. »

mpn-hub.com/medical-informa...

[Meatloaf9 in reply to Manouche]

Thank you for posting this article. It led to a website called MPN-HUB which I did not know existed, has some interesting information. Thanks

[MPort in reply to Manouche]

Thank you. I have printed it out for further study.

[EPguy in reply to Manouche]

I found this old post. My understanding is genes, and their mutated versions, come in pairs. Heterz vs Homoz refers to whether one or both of the pair are mutated.

I've read the same about INF vs type of allele. I think there is conversely a better prognosis with hetero according to my 1st Hem Dr.

But even in US where I got a very detailed genetic study, they did not check the pair status. With INF therapy becoming more common they should do so.

[mhos61]

Hi charl17, it’s encouraging to hear that your counts have been normal for a significant period of time. Pegasys seems to be doing its thing!

Also, good to see your Allele Burden declining. It may have declined more than you think if it’s been four years since you last had it measured.

Good luck going forward in your treatment.

[charl17 in reply to mhos61]

Thank you for your kind words.

[Susana7]

That is good news, it is going in the right direction! And is not very high in absolute terms. They don't routinely measure the allele burden in the UK's National Health Service as it has little clinical relevance so I have no idea what mine was or is after 5 years on Pegasys. I'd like to think it has gone down like yours

[charl17 in reply to Susana7]

I think I get this test because I am part of an observational study. Every year I go to a different lab where they take a lot of tubes. As to the clinical significance of allele burden, I understand the NHS's position but I am still happier to see it go down than go up.

[Susana7 in reply to charl17]

That's interesting. My consultant said they do measure the allele burden on the NHS for those that are part of trials. I also completely understand why this is not offered routinely on the NHS, as resources are scarce. But it is very reassuring to see it go down in your case. I hope the trend continues! X

[3195]

At this point, they have no idea if allele burden is significant, or even means anything overall. As research continues in the years to come, specialists may get a better idea of what it means.

[ritaandscooter1 in reply to 3195]

My MPN specialist Dr. Tefferi would agree with your comment regarding significance of the AB. He is a world renowned expert in our blood disorders and is mentioned in practically every research study that is submitted on this site.

[Bigcheat]

There are papers (sdu.dk/om_sdu/institutter_c... that suggest a correlation between allele burden and disease severity.

As the mutated cells are the culprit for many of us, it is just common sense that less is better.

Cheers,

Bigcheat

[skodaguy]

I can't be much help I'm afraid. I was put on interferon for a short time for secondary MF. Unfortunately it did little for me and actually increased the itching such that I was squirming in my seat when driving. So it was stopped rapidly.