Allelo burden

[SoledadBarcelona]

Allelo burden. What is it? What kind of test is?

what does it show in PV patients? Is it useful in clinical practise? What change? Etc.

Thanks

[Bigcheat]

Allele burden can be measured from blood using PCR-analysis. It describes what percentage of bone marrow cells are mutated. It is not tested routinely, even though some say it should be followed in addition to blood cell counts (e.g. platelets), in order to understand better how treatments are working.

Cheers,

Bigcheat

[SoledadBarcelona in reply to Bigcheat]

No only PCR, algo Quantification of JAK2V617F mutation by next‐generation sequencing technology

Emna Abdelhamid, Martin Figeac, Aline Renneville, Sabine Quief, Céline Villenet, Thomas Boyer, Olivier Nibourel, Valerie Coiteux, Bruno Cassinat, Eric Lippert, Nathalie Helevaut, Zohra Soua, Claude Preudhomme

American Journal of Hematology 88 (6), 536-537, 2013

The aim of the present study was to evaluate the ...

What is the best way?

Regards

[amalekh]

Check this for explanation:

patientpower.info/myeloprol...

Cheers,

Malek.

[MPort]

I have been trying to get this test done. Last appointment in November I was promised March. Then no hospital appointmentso in person so local blood tests instead. It can't be done locally. So I will have to wait until hospital visits become possible again. I think it should be done yearly as a check and benchmark of bone marrow state.

[SoledadBarcelona]

But, when I go to the lab, what do I have to ask for? For example, "I want to check the allelo burden of JAK2V617F mutation". Or, what?

[hunter5582]

There are a number of different tests to assess allele burden. The JAK2 Mutant Allele Quantitative Analysis shows the percentage of hemapoietic stem cells that are positive for the JAK2 mutation.

Broadly speaking, people with an allele burden under 50% tend to be more mildly affected by the MPN. People with ET then to have the lowest allele burden. People with MF tend to have the highest. People with PV somewhere in-between. Progression in allele burden can be associated with progression of the MPN. The relationship is not entirely linear. The reality is more complex than that. Understanding of the role of allele burden is emerging, but not completely understood. Most would agree that less is better.

There is some good research on this topic. There is not agreement in the MPN field. Unfortunately, many hematologists are not up-to-date on this research and do not know what to do with the data, so many do not bother with it. It is really important to find a MPN-Specialist who really is on top of state-of-the-art MPN treatment,

Here are a couple of references. There is certainly more.

ashpublications.org/blood/a...

ncbi.nlm.nih.gov/pmc/articl...

All the best yo you.