Info, please , about what genetic/genomic data can now be gathered from a peripheral blood test

[Gipsy123]

Hi my MPN friends

I have PMF, and I understand that the genetic/genomic data. (Not entirely sure what the difference is ) (mutations, etc. ) about my condition can now be assessed from a peripheral blood sample. I’ve had BMBs in the past, and I’m aware that you can’t compare results from a BMB with peripheral blood results. I always come up with the JAK2 mutation, and I’ve had other mutations in the past : TET2, and trisomy 8. But only from a BMB. And not always then. It’s confusing

As I’m due a blood draw in mid January, and will have been on weekly EPO injections (plus Rux15mg twice a day) for a couple of months by then, I’d like the blood draw to up date me on everything it can . Is it realistic to ask my haem to order genetics/genomics on the next blood draw? What can it tell me?

My veins are getting tired of too many stabs, and so am I .

Take care, and stay well

Rachel

[hunter5582]

This is actually a rather complicated question. It is worth noting that there are a number of different genetic testing techniques. NGS, PCR, Sanger Sequencing are just some of them. mpn-hub.com/medical-informa...

Within each of these type of techniques, there are different panels with different components. There are also different levels of sensitivity in the different tests that are conducted. This might be why the non-driver mutations do not always show up.

Whether more blood-based genetic testing is indicated would be based on what the questions are. You already know that you have the JAK2 mutation along with TET2 and trisomy 8. One likely question would be whether there has been any progression of the JAK2 allele burden. Not everyone would agree this is worth checking. That is a discussion to have with your MPN Specialist.

Wishing you all the best moving forward.

[Gipsy123 in reply to hunter5582]

Thank you for the link, Hunter. It’s complicated, as you say. The TET2 seems uncertain -only came up once in a BMB at another hospital. Haven’t got the original lab report. Only a mention in a letter.

[hunter5582 in reply to Gipsy123]

It would be worth tracking down the original report. You should be able to tell which type of panel was done for this report. It helps to always have access to all parts of our medical records.

Wishing you all the best moving forward.