Jak2 mutation!

[Trocken]

Morning all, i’m Back after 3 weeks to see my Haemotologist on Monday, he’s questioning the results from my Jak2 test and has repeated them (results of second test will be given on Monday). When I saw him 3 weeks ago he’d said that the mutation was just 4%, which is apparently low, I’m just wondering what mutation percentages others have? If the results come back the same (which he said is 99% likely) he’ll be happy to diagnose ET with Jak2!

[mhos61]

Hi Trocken,

I don’t know what percentage my allele burden is. I’d like to know though.

When I was given the Jak2+ diagnosis it just said on the letter that the Jak 2 mutation had been detected at more than 1%.

Mary

[P-O-T-S]

Hi Trocken,

I have only recently been diagnosed with Low-Risk MF and my JAK2 V617F Mutation was 45%!

I hope this helps to put things into perspective a little.

All the best

Barry

[Paul123456]

A 4% Allele Burden is good! Mine is 75%. Was 55% 18 months ago. Part of the reason I’ve started Pegasys, hence my next AB will be interesting - Inf appears to be the only drug that lowers AB, albeit for a subset of patients

An AB over 50% increases risk of progression but only loads the dice a bit so Hems not convinced re prognostic value. ie they rely on other signs to warn of progression

Best Paul

[Meatloaf9 in reply to Paul123456]

Hi Paul, it will be interesting to see what the Pegasys has done for your AB, please keep us informed. When I asked my hematologist what the significance was of lowering the AB he said that no one knows just yet. It seems to me that lowering the AB should be a good thing for anyone. Hoping yours drops and that it is found to be very beneficial. Best of luck.

[Elab]

Hi my jak+ mutation was 30%

[Trocken]

Thank you for your comments, it’s interesting to put it into perspective, my platelet counts only in the 600’s so not massively high, I’m just 38 so been started on aspirin, all’s good

[Timjonze]

Hi. The average for ET is around 25% I think. I have ET and my allele burden is 40%. Docs seemed happy enough with that although I now realise it’s on the high side for ET. My platelets are also only slightly raised (around 520). A burden of 4% sounds good to me although I don’t really understand the links between it and prognosis - I think the lower the better as a rule though.

[Meatloaf9]

Mine was 27% when tested several months ago. ET Jak2+, platelets at 500 and 68 years old or young depending on what day it is. I would think that 4% would be a good thing.

[Paul123456]

I’ve read one article which states progression risk increases by 20% for ever 10% over 50%. However this was based on one study several years ago. Our Hems seem to work off 50% as the watershed number but it doesn’t keep them awake at nights. When I was 60% all three Hems I saw said they’d not start Peg if they were me. Since rising to 75%, two them said time to start Peg. Not seen the third since.

My best guess is that a high AB increases risk of additional mutations by inhibiting the P53 gene. Hence if you are not susceptible to these mutations, you can be ‘unaffected’ by a high AB. There are some on other Forums with ABs over 90% and not progressed.

I will report back post next AB test.

[Trocken]

You guys are a wealth of knowledge, thank you so much, I like your way of thinking a 4% mutation has to be good based on the laws of percentages!!

[Hannah52]

When I was diagnosed over 2 years ago with the JAK2 mutation it came back with a small clone of 1 to 5 %