JAK2 (V617F) allele burden Update

[shiftzz]

Just got my latest allele burden number

1.22

BIG SMILE>>>

Other bloods all within range, but, I'm still tired..

[Manouche]

Fantastic! You are now considered as «operationally cured » with an AB < 2%

[shiftzz in reply to Manouche]

Im still on interferon 135, hope to get that reduced, but, im still very tired..

[Manouche in reply to shiftzz]

The idea of your haem is to chop the head off JAK II the bastard. Your dosage will eventually be reduced or stopped, but your haem certainly prefers to wait a bit til the AB is undetectable.

[Piperpeeps]

Hi! Congratulations on your recent good news regarding Jak2 allele burden. Does the allele burden change frequently. When my daughter was diagnosed last year at age 15 her allele burden was 4 (which the dr. Said was high) and when was recently tested again about 5 months ago it was 7. I’m still trying to wrap my head around all of the medical lingo and what it all means.

Thank you!

Angela

[shiftzz in reply to Piperpeeps]

Last year it was over 2.3 % so the interferon is working

[JaneWayne in reply to Piperpeeps]

An AB of 4% isn't high at all, in fact it's very, very low. There are people with up to 90-100% AB. As these results can fluctuate, because they aren't always that accurate, I'd say not much has changed for your daughter.

[Piperpeeps in reply to JaneWayne]

Thank you so much for the information!

[EPguy in reply to Piperpeeps]

Allele of 4 (now 7) may be high for someone so young. That may be the reason for your Dr's statement. And that is a relatively fast rise percentage wise.

You should ask your Dr about a NextGen Sequencing. This looks for many more MPN related mutations and with her long future to come you want this info for future decisions. In her lifetime there will almost for sure be therapies where this info is useful.

HU is not usually Rx for young people and your Dr's suggestion to use it is surprising. But you may want to ask about interferon (INF). Besremi was recently approved in the US, but I'm not sure about for one so young. INF may stop the rise in allele and can reverse it. But this is mostly studied in adults so you will need expert advice to help these decisions.

[Piperpeeps in reply to EPguy]

Thank you so much for the information. This disorder is very rare in pediatrics and the two local hematologists we have seen do not know much(if anything) about this disorder and both local hematologist recommended HU. However, the pediatric MPN specifying New York said 81mg aspirin daily.

[EPguy in reply to Piperpeeps]

It is not common in such young. But it is not unheard of.

This report shows a small group of young:

They say one reason HU may be 1st choice for Drs is its past use in sickle cell in the young. They show IFN worked ok, but don't have info on any change in the mutation.

ashpublications.org/blood/a...

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This site has an easy reading discussion, saying any cytoreduction in kids is for only more severe cases:

mpnresearchfoundation.org/p...

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And finally another small study summarized, they say the authors recommend considering IFN for the young:

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

"Reasons for initiating Peg treatment were related to concerns for hydroxyurea-associated malignancies, the impact of hydroxyurea on fertility, possible disease-modifying effects of Peg, and side effects related to hydroxyurea."

The allele reductions are not huge, only 3 of 13 children reported any here-

From 49% to 32.7% after 3 years in one patient

From 53% to 25% after 2 years in one patient

From 26% to 21% after 1 year in one patient

Adults on average see higher odds of this result by year 2 at least. But on HU or just aspirin this is even less likely, at least in adults, so it is worth discussing IFN with Dr, maybe low dose. In general allele will only increase through life as my Dr said at my Dx, so anything that might at least slow that down is worth discussing.

There is still uncertainty whether lowering allele is useful, your Dr may discuss this with you too. But it is increasingly considered a good goal by more Drs.

[EPguy]

Wow. A most fabulous glide path. You're going to need extra sensitive tests soon enough, a very nice problem.

Sorry if I asked before, do you have info on any other mutations?

[3195]

At this time, the significance of the Allele Burden is unknown.

[ritaandscooter1 in reply to 3195]

My MPN specialist who is well published also said that there is no factual evidence regarding the significance of the Allele Burden. He said until there is concrete evidence, he does not look at this.

[EPguy in reply to ritaandscooter1]

My thought is I'd rather have allele lowered and find out it didn't matter than not have lowered it and find out it would have mattered.

In the post re long term INF from the top INF guys (Silver MPN group) INF is quite useful:

healthunlocked.com/mpnvoice...

It could be this INF benefit is from something other than allele. But we in this forum have been collecting enough info on low allele that betting against it is not my preference.

[shiftzz]

Never been thought as sensitive,, LOL... Mutations, high BMI, grumpy, does that count?

[mhos61]

That’s fantastic news, very encouraging.

[SoledadBarcelona]

Congratulations! This is wonderful.

[JT_Marlin]

That’s fantastic news! So glad the peg is working - gives me hope! I was 6 two years ago and 10 last year. My blood is at the lab now for this years check🤞.

[shiftzz]

These are my HCT numbers and some drug info. It appears that pega took some tie to make a difference..

pega hct

[JackLina]

What drug are you taking for this?

[JackLina]

Sorry, I see you told us that. Is it Pegasys, the same as me? Just clutching at straws really. I want to learn there's a chance for me.......

[MPNBlog]

Great news! Always good to get good news! It gives us all some hope. I think 135ug PEG would make you tired. I'm on 45ug and it makes me tired! Kiladjian's work seems to say that you can go off the PEG and retain the benefits for quite some time like several years. Best wishes.