Can some please tell me I have been diagnosed with ET, what does it mean when they say that I have Jak2 and CALR ?
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If you were to have both JAK2 and CALR mutations, then you have two of the driver mutations that cause MPNs. This is a very rare phenomenon, but it does occur. Suggest that you confirm with your hematologist that those are your results before diving too deeply into this issue. .
There is information in the literature about dual driver mutations. Here are a few examples.
ashpublications.org/blood/a...
tandfonline.com/doi/abs/10....
jmdjournal.org/article/S152...
Please do let us know what you learn and how you get on.
Hunter , thankyou so much 🙏 I habe read the documents that you have sent but it seems all too.confusing as I am not from a medical background and I dont understand it at all! this has been confirmed with my haemtologist in writing it states JAK2 , CALR , JAK2 VF617
The list in that report could mean they checked your Jak2 and CALR genes (everyone has them) and found the Jak2 one had mutations. The "VF617" is the typical mutation that Jak2 can have, while just "Jak2" is a normal gene. So a Jak2 mutation is called "JAK2 VF617 "
But one would expect a third gene to be there "MPL" meaning they should have checked Jak2, CALR, and MPL, these are the three that are classic MPN genes that can have mutations.
Is there more text in the report near the "JAK2 , CALR , JAK2 VF617 "?
EPguy makes a good point. There are two JAK2 mutations known to be pathogenic, JAK2v617f and JAK2 Exon 12. There are actually over 50 known JAK2 mutations, but not all are pathogenic.
I would hate to guess at what the report means without being able to read it. No matter what, clarity will require talking to your hematologist for a proper interpretation.
Please let us know what you learn.
Here is a copy of what was said
Thankyou I have an appt with my CNS on the 17th May, I will update after, but in the meantime thankyou I appreciate that you have taken the time to reply to my query 🤗
Hi twirl63 ,
It may help to contact Blood Cancer UK
They have free to download information booklets on ET - cdn.shopify.com/s/files/1/0...
You can also call and speak to a specialist nurse, who I'm sure will talk you through everything. 0808 2080 888
Hunter and EPguy are so helpful in explaining things, I've learned so much from their posts x
Please keep us updated.
Lx
As much as all the info on here is very good, I would say that in the 1st instance, you should make contact with your haematologist or an assigned clinical nurse to clarify your diagnosis to your satisfaction.
As most of us are not from a medical background, nothing beats a face to face.
Happy Easter
🤓