I have had a recent blood test after having raised Hb and haematocrit,
Results show I have a jak2 v564l exon 13,
Awaiting bone marrow biopsy.
Do I have polycythaemia Vera??? Or other potential cancer, apparently rare gene mutation.
Thanks
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Hi @Albert and welcome to the forum. It’s horrible waiting for results isn’t it. Have your medical team discussed things with you and talked an out possible outcomes of the tests?
I have copied in the @BloodCancerUK_Nurses who will be more knowledgable about the medical side of things.
How are you doing at the moment? I hope you don’t have to wait too long for tests and results. We all know on here how difficult that can be.
Please keep us updated on how you are doing.
Nichola
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Dear @Albert,
Welcome to the forum. I am sorry you are stuck in this waiting game right now but I am glad you have found us for some support.
Being Jak2 positive means there is a genetic mutation which is often linked with blood conditions. These conditions can include blood cancers such as polycythaemia vera like you mention. Have the team given any indication as to what they suspect?
The bone marrow biopsy gives the haematologist a clear idea of what is going on so they can make a firm diagnosis.
Unfortunately right now it is a case of waiting for all the results to come back, which I know is really difficult.
We are very much here for you and if you would like to talk things through you can call us on 0808 2080 888.
Best Wishes,
Heidi J (Support Services Nurse)
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Thank you for your reply,
I have told the jak2 v567l exon 13 is rare,
More likely polycythaemia Vera, skin biopsy to see if had mutated gene from birth.
Obviously looked around, not sure what this Jak2 mutation means as very rare.
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Sorry
Jak 2 v564l mutation I have.
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Update, bmb tomorrow and skin biopsy to rule out hereditary link to Jake 2 v564l mutation.
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Hope it all goes ok 
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Hello there @Albert, welcome to the forum. I’m so sorry you had reason to look for a place like this, but am very glad you found it.
In 2023 I received a test result saying I was positive for JAK2 gene mutation which led onto further testing, including a bone marrow biopsy and aspiration, and these found I have Polycythaemia vera (PV). I started treatment right away and am still here today, so something must have gone well!
From what my haematologists have told me, what I’ve read, and what from other forum members and nurses share here, JAK2 and its variants are indeed very commonly associated with Myeloproliferative neoplasms (MPN) like Polycythaemia vera (PV) and Essential thrombocythemia (ET). I read that something like 97 % of people with Polycythaemia vera (PV) have a JAK2 mutation.
However, I gather from my non-medical point of view that not everyone with a JAK2 gene mutation will have symptoms or a diagnosis of Myeloproliferative neoplasms (MPN). When I was diagnosed I had no symptoms at all, hence how shocking I found it all. Others unfortunately have a clotting event that takes them to hospital which then helps indicate their Myeloproliferative neoplasms (MPN). I sincerely hope you’ve avoided any clotting events.
So I’d say try to bide your time while you await test results. Time to find a distracting activity or few to help offset any very understandable anxiety. Do you have loved ones you can share your concerns with? This really helped me, therapy too. There’s nothing quite so excruciatingly slow as awaiting test results like these so please take it easy on yourself.
From my understanding, the bone marrow biopsy results can take ages to come back—my dad was tested for a JAK2 mutation and his result didn’t return until the year after! I doubt yours will take so long as you’re already being actively checked out and “in the system”, but the waiting is likely to be difficult regardless of its length.
While you await test results, my one bit of advice would be to be careful where you seek information. There is a lot of inaccurate and largely generalised, outdated information out there about Polycythaemia vera (PV) and other Myeloproliferative neoplasms (MPN) at the end of a quick google. Dr Google is not our friend and I’d strongly suggest sticking with blood cancer organisations such as this one, MPNVoice, or other specialist sources that share up to date research.
With that in mind, perhaps you might like to read about Myeloproliferative neoplasms (MPN)—I found this super helpful after diagnosis with JAK2: What are myeloproliferative neoplasms (MPN)? | Blood Cancer UK
Here’s MPNVoice: https://www.mpnvoice.org.uk
And should you want to speak to one of the lovely specialist nurses at Blood Cancer UK, they often respond to us directly around the forum like dear @Heidi-J-BloodCancerUK already has, and you can call them for free on 0808 2080 888.
Take your time @Albert and I hope the bone marrow biopsy goes well. Do ask for the strongest anaesthetic you can as it can feel rather uncomfortable without it, as others around the forum attest. Then the long wait for results.
Do please let us know how you get on @Albert , you’re not alone in dealing with this.
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Thank you so much for the reply, I will take your advice regarding not to worry,
Thank you for the support and helpful links also, I will keep you informed x
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Yes please try not to worry @Albert, you’re seeking answers which is the best thing you can do.
I just wanted to reassure you that if you do get diagnosed with an Myeloproliferative neoplasms (MPN) then life is not over. Although Myeloproliferative neoplasms (MPN) are considered rare, there’s a lot of folks around the forum living well despite them. We can live into normal old age, often with only minimal adaptations and simple treatments.
I’ll look forward to hearing how you get on, good luck tomorrow.
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