1. < Blood Cancers & Disorders

JAK2 detection accuracy

Posted by concernedmom34 @concernedmom34, Jul 17, 2023

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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Moderator
Colleen Young, Connect Director | @colleenyoung | Apr 27 3:22pm
In reply to @meghan213 "Hi All, I was curious about everyone's experience with a potential false positive JAK2? My husband..." + (show)
@meghan213

Hi All,

I was curious about everyone's experience with a potential false positive JAK2? My husband had a positive JAK2 and we have the bone marrow biopsy scheduled. He had some more blood work done and a second JAK2 came back negative? Now, we are confused.

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@meghan213, what are the next steps for your husband?

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nypara66 | @nypara66 | Apr 28 6:41am

Wow That’s a bit crazy especially being that that particular blood test is very expensive! Mine came back positive the first time and all my other labs confirmed Polycythemia Vera so I opted out for the bone marrow test. Most oncologists say some just want/need final confirmation but the treatment is the same. I would proceed being the tests are contradicting. What is the potential diagnosis?

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nohrt4me | @nohrt4me | Apr 28 9:42am

The bmb can detect level of fibrosis in the bone marrow as well as offering a firm diagnosis. Does anybody know if bmb also indicates allele burden?

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Mentor
Lori, Volunteer Mentor | @loribmt | Apr 28 1:02pm
In reply to @nohrt4me "The bmb can detect level of fibrosis in the bone marrow as well as offering a..." + (show)
@nohrt4me

The bmb can detect level of fibrosis in the bone marrow as well as offering a firm diagnosis. Does anybody know if bmb also indicates allele burden?

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From my understanding, both the bone marrow biopsy and a peripheral blood test can be used in detection of the JAK2 mutation and measurement of its allele burden in patients with myeloproliferative syndromes (myeloproliferative neoplasms). Though the peripheral blood test is generally sufficient in detecting the mutation.

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