Help understanding my BMB results: Just an update... - MPN Voice

MPN Voice

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Help understanding my BMB results

UKZA profile image
UKZA
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Just an update, I have received my post clinic letter from my consultant and the results of the genetic tests are now in.

CALR mutated 9 no deletion- neither type 1 nor type 2 ( probably best described as type 2 like)

Post ET MF on bone marrow - CALR, IDH2, TET2 mutation s and no copy number abnormalities on SNP array( karyotype failed)

Risk scores:

DIPSS+ low

MIPSS70+ intermediate

MYSEC-PM low

These results will only be discussed with me at my next telephone consultation in 4 weeks and I am struggling to understand them.

Is anyone able to shed some light on what the genetic mutations mean for me.

Thanks again .

Penny

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UKZA
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hunter5582 profile image
hunter5582

I expect you already know that CALR is the driver mutation that caused the MPN. Others on the forum who have the CALR mutation are more knowledgeable and can speak better to their experience with it. Here are a few references.

"Type 2-like CALR mutations were preferentially associated with an essential thrombocythemia phenotype, low risk of thrombosis despite very-high platelet counts and indolent clinical course." ncbi.nlm.nih.gov/pmc/articl....

ashpublications.org/blood/a...

IDH2 and TET2 are non-driver mutations that are associated with MPN risk of progression. I also have a non-driver mutation present, in my case a germline NF1 mutation. There is information in the literature about non-driver mutations. Here a a few examples.

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

ashpublications.org/ashclin...

DIPSS+, MIPSS70+, MYSEC-PM are all standardized MPN risk calculators. You can look up the meanings of the various scores on-line. Note that these scores are statistical projections. They cannot tell you all that you need to know about your individual prognosis.

Given that you have findings to discuss and likely some very reasonable concerns, suggest that you insist on an in-person appointment. I do not know whether you are consulting with a MPN Specialist. rather than a regular hematologist. This would certainly be the time to consult directly with a MPN Specialist if you are not already doing so.

Wishing you all the best moving forward.

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