JAK2 Allele burden 17%: Got my NGS results. they... - MPN Voice

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JAK2 Allele burden 17%

littleluigi profile image
6 Replies

Got my NGS results. they found only JAK2 mutation.

Allele burden 17%, what does it means?

First i got diagnose Pre-MF or maybe it is ET..

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littleluigi profile image
littleluigi
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6 Replies
socrates_8 profile image
socrates_8

Hey Brecht... :-)

Generally speaking ONLY of course...

Allele burdens are lowest in ET (c. 5-10%), highest in MF, and somewheres in between the two for PV...?

Hope this helps a little...

Steve

JackLina profile image
JackLina in reply tosocrates_8

Hmmm. That rather concerns me as an ET JAK2+ with recently disclosed 14% Allele burden. Should I be asking for another test and a rethink?

My platelet count is staying within normal range, having been administering Pegasys since June 2018.

I suspect it was a lot higher when I was diagnosed but I fought to discover this one and it appears it wasn't initially tested.

littleluigi profile image
littleluigi in reply toJackLina

What concerns you?

JackLina profile image
JackLina in reply tolittleluigi

You stated ET is between 5-10% and MF at 17% with PV in between. Why would I not be concerned when my diagnosis was ET JAK2+ and I am showing 14%?

Alexbits profile image
Alexbits in reply toJackLina

Allele burden by itself does not indicate a certain type of MPN. Statistically it's lower for ET, with median of 18% (from what I saw on the Internet).

Your allele burden is pretty low. It can be over 90% for MF in some cases.

socrates_8 profile image
socrates_8 in reply toJackLina

Agreed, it was actually I who stated those percentages, and I added 'Generally speaking only'.

I would go w/ what Alex mentions here and suggest that these percentages are on the lower side of the scale, however, if you are concerned consult w/ your medical experts for their opinions and follow that advice...

Best wishes, stay safe & well...

Steve

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