JAK2 Allele burden 17%

[littleluigi]

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..

[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 in reply to socrates_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 in reply to JackLina]

What concerns you?

[JackLina in reply to littleluigi]

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 in reply to JackLina]

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 in reply to JackLina]

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