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How Is Allel Burden Determined, Pathology From BMB Or From CBC?

A myMPNteam Member asked a question 💭
Ontario, CANADA

The thought I’m having is that cytoreduction meds lowers burden. If this is true, does that not suggest that it also helps with disease progression? “No meds reduce disease progression” confused.
Maybe burden reduction is achieved with Ropeginterferon 2B = cure?

June 15
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A myMPNteam Member

It is a genome test. Mine was done here: Myeloid Malignancies Mutation
and Copy Number Variation Panel
by Next Generation Sequencing.
Very interesting and took about 2 weeks to show up in my test results.

June 21
A myMPNteam Member

I knew you would offer clarity, thank you again Steve. Trying to better understand the benefits vs side effects of taking meds. My numbers are met after only 5 phlebotomies. Feel ok with no unmanageable symptoms...other than my emotions.
Thanks again.

June 16
A myMPNteam Member

JAK2 quantitative analysis can be done with either bone marrow aspirate or from blood. In comparing results, it is best to compare results from the same type of test (apples to apples). Some of the cytoreductive medications have demonstrated efficacy in reducing allele burden, including ropeginterferon alpha 2b. Recently there has been evidence that ruxolitinib may have this same effect. Hydroxyurea does not have this benefit.

Reduction in allele burden to low levels is referred to as a molecular remission. A partial remission to less than 10% is found in some. A small number achieve a complete molecular remission, where the JAK2 mutation is no longer detected. It is not yet clear what the implications of molecular remission are; however, most think that it is a favorable outcome. Certainly, it is much better than seeing the allele burden continue to increase,

Moliterno et all published a recent review that is of interest. https://ashpublications.org/blood/article/141/1...

JAK2V617F allele burden in polycythemia vera: burden of proof
JAK2V617F allele burden in polycythemia vera: burden of proof
June 15
A myMPNteam Member

I’m still learning about this. But again my Hematologist denied my request for routine every 3mo blood test to measure my Allele Burden % of damaged/mutated cells.

Even had the nerve to ask me WHY I need it, and why I requested the D- Dimer blood thickness test. 🙄

Had to fight to get him to add the blood thickness blood test again too.

The amount of stress, BS, and not knowing from most doctors, especially the Hema, is forever a source of stress and anxiety, and me using a LOT of time often researching what I’m supposed to do.

In the process trying to get an MPN Dr.🥹🙏🏼

June 21 (edited)
A myMPNteam Member

I believe it is called remission...

June 15

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