JAK2 detection accuracy

Posted by concernedmom34 @concernedmom34, Jul 17 11:30am

Hello, my 22 year old son had a DVST about five months ago and following with all the testing his blood test showed less than 1% JAK2 was repeated and showed a 1% JAK2 He just had a bone marrow biopsy done, and it showed no detection of JAK2. This has all been very confusing and conflicting. His blood counts are in normal range. RBC has been slightly high at one blood draw. Before the bone marrow biopsy was done, he was told he had PV and now with the bone marrow biopsy results they are saying no evidence of an MPN. Just don’t know what to believe. Anyone have any input?

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Is he seeing a specialist? IE: hematologist?

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@sregiani

Is he seeing a specialist? IE: hematologist?

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Yes he is

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This is a good place to learn. I am in an observation stage pending diagnosis. I'm confused too and have a list of questions for my hemotologist. I have set an appt to try to pin point. I am jak negative on blood test. Haven't had bone test yet. But my blood levels have been elevated for several years. Symptoms and elevated blood tests indicate either pv or secondary however they have examined my stomach and don't see anything major that would cause it. My hemo. Advised me they see about 20% Jak negatives as false results.
I think for me, is gathering information, talking with doctors and keep pressing for answers. This site is wonderful for connections for education.

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Hi @concernedmom34, have you had a chance to ask your son’s hematologist about the discrepancy in the findings between the blood testing and the bone marrow biopsy? If the biopsy ruled out MPN, what are your next steps?

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Ahhh if it were only so simple and direct. I have asked about the discrepancy and the hematologist wasnt quite sure why there weren’t the same results in blood test and BMB. Next step is that we are meeting with an MPN specialist on 8/25. I have sent her over the BMB results and she had 3 reasons that could explain the discrepancy 1)The jak2 mutation was in a mature progenitor cell that had a limited lifespan and so lived its life and then died.
2)His JAK2 cells are such a small percentage of cells they come up just at the level of detection in some studies and negative in others. The clinical implications of this are unknown, but probably insignificant.
3)The previous positives were lab error.

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