Confused.com

[twirl63]

Can some please tell me I have been diagnosed with ET, what does it mean when they say that I have Jak2 and CALR ?

[hunter5582]

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.

[twirl63 in reply to hunter5582]

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

[EPguy in reply to twirl63]

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 "?

[hunter5582 in reply to twirl63]

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.

[twirl63 in reply to hunter5582]

Here is a copy of what was said

Screen shot

[hunter5582 in reply to twirl63]

That is rather confusing. It could be interpreted either way. I suspect this means that JAK2 and CALR were checked and that JAK2v617f is mutated. Not sure what would have happened to checking MPL. Usually all three are checked. I would definitely request clarification.

[EPguy in reply to twirl63]

Their use of the comma supports the idea that they looked at the two genes, and found Jak2 was mutated. They seem to find each letter quite precious, besides skimping on explanations they omitted the usual "F" and the end of "V617".

[twirl63]

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 🤗

[Jamesxyz in reply to twirl63]

I think sometimes they stop the testing after finding one mutated.

In my case jak2 was +, so no need to check for CALR ,

[Lyndjs]

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

[twirl63 in reply to Lyndjs]

Thank you so much for the download everyone has been so kind and helpful 🤗

[Lyndjs in reply to twirl63]

It's a great forum.

Happy Easter 🐰 🐣

[LFCLove]

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

🤓