What Pv genes must be tested

[SoledadBarcelona]

Checking what genes for PV. What genes will we test?

[hunter5582]

95% of us with PV are positive for JAK2v617f. A smaller number have JAK2 exon 12. A VERY small number test positive for CALR. There are also non-driver mutations that can impact the course of the PV. Many doctors do not test for these. After all these yours with a MPN, I am about to check mine using one of the Myeloid Panels that are available now. I will be using this one.

integratedoncology.com/test...

Hope that helps.

[MPort in reply to hunter5582]

Hi this has been on my mind since I watched the Australian webinar with Professor Andrew and the Prof from Perth. I was diagnosed with PV in 2005 and had a bone marrow done shortly afterwards. The results of this are lost due to non synchronised test recording. Later I tested positive for JAK2.

Last November I had hoped to have the allele burden checked but Covid caused cancellation of next hospital attendance and I am told that the test can only be done at haematology departments in hospitals.

I have a telephone appointment in 2 weeks and am trying to work out what tests to ask for. I would be very pleased to have guidance on this. Hunter I have checked the link above. I don't have an account with them yet and would appreciate having more info from you on this.

Also I would be very grateful if the link to the Australian webinar could be reposted. I would like to watch it again. The speakers were clear and concise about the nature of MPNS.

Many thanks

Mairead

[hunter5582 in reply to MPort]

There is more than one Myeloid Panel available. The IntelliGEN panel is just one of them, but a good example since it is comprehensive. While there is a VERY small chance you could also have one of the other driver mutations (CALR, MPL), it is very unlikely. Some healthcare systems would refuse to test because it would be viewed as not worth the money. There are two things you could look to do. Certainly a JAK2 Mutant Allele Quantitative Analysis would be a good idea. That should not be a big deal to get. There is not considerable research into the secondary mutations that can impact the course of a MPN (e.g. ASXL1, TP53, etc). Not all docs will check for this as many do not include it in their practice. You will have to research what is available to you in your healthcare system. The list of mutations on the InterlliGEN panel is a good reference point for what should be included.

Socrates8 would most likely be the one who posted the Australian webinar. Here is a link to some webinars that is also very good.

mpninfo.org/conferences/201...

This one is short and worth watching too

vjhemonc.com/video/9rf073wi...

[MPort in reply to hunter5582]

Thank you so much. This gives me a great start on what to think about and ask for. I look forward to checking out the links this evening. Many thanks again.

[hunter5582 in reply to MPort]

Just saw a typo there is NOW considerable research ....

Looking at non-driver mutations is a good idea, particularly if the MPN is progressing.