BMB Results

[gdpone]

Would like to get others thoughts. Looks like I caught it early. Images below because the site is weird

Edited: I misread my first PCR test I have jak2 v617f mutation.

[gdpone]

Part 2

Bmb results

[gdpone in reply to gdpone]

part 3

Bmb result

[gdpone in reply to gdpone]

part 1

bmb

[EPguy in reply to gdpone]

Your provider is doing a deep check. Your part 3 data has CD4/CD8 ratio. I have an interest in this one, a value over normal correlates to active autoimmune disease. In hindsight I think all IFN pts should get a baseline reading of this ratio and the absolute values. I had to ask for this test, it's fairly obscure. Mine was high which was not a surprise, but I don't have a pre-IFN value.

[gdpone in reply to EPguy]

Oh I’m glad to know that I didn’t realize that was a possible AI marker. I will look into that.

[EPguy in reply to gdpone]

It's not a normal test for A-I. I asked for it to look for high values as I found from searching that it's relevant to A-I. Since so many tests can be negative with active A-I any indicators are worth having.

It's more commonly ordered to look for low values as with active AIDS infection.

Yours indicates normal on the image.

[hunter5582]

This seems to show a very low level positive for JAK2v617f (0.9%), which is on exon 14. It appears to be a comprehensive panel that would have also checked for the JAK2 Exon 12 variants. It does seem off that you would have tested positive for JAK2 Exon 12 previously but not now.

The bone marrow evaluation shows normal cellularity and atypical megakaryocytes. That seems more like an ET profile if I understand it correctly; however, your PLT are normal while having mild erythrocytosis, which is a clinical presentation of PV.

It is good news that they checked for such a wide array of non-driver mutations and did not find any additional gene variants.

This is a very puzzling finding. I expect that you will need to review the results with a MPN Specialist for a better explanation. Please do let us know what you learn once you have reviewed these findings.

[gdpone in reply to hunter5582]

Yeah I misread my first jak2 test it was also v617f. But yeah I don’t know it’s very odd. I feel like it was caught extremely early which is presenting with very low disease state markers? If so I’m hoping to reverse it completely with besremi if I’m lucky. Or maybe this isn’t typical MPN at all but so far all my diagnoses have been PV even though I feel my taking testosterone has influenced my red cell lineage numbers. I have stopped testosterone so will see where my markers head. I will ask my specialist about it.

And yeah I’m VERY happy about not having any additional driver mutations. My job now is to ensure I don’t expose myself to any environmental exposures that could lead to some.

I will be sure to update with any new information. Don’t see my specialist till the 12th.

[gdpone]

Also anyone know anything about increased cd34 positive blasts at 1%?

[PhysAssist in reply to gdpone]

My literature search suggested that if you had been diagnosed with Myelo-Dysplasia Syndrome, having elevated CD34+ would be a marker for poorer outcomes, but it's not clear at what level of elevation that becomes evident,

Also, there's nothing about what it means in non-MDS settings [at least that I could tease out...]

FWIW, I agree with your guess about why your BMB results seem so unclear- first of all having a JAKII allele burden that low probably really supports the concept that you're just at the threshold of developing an MPN. ...and the fact that your cell counts weren't grossly elevated [from what I could see] is a further clue,

On my BMB at Dx in 2022, after >10+ years of symptoms with rising Hct and Hgb until my RBC/WBC/Platelet counts became grossly elevated, my report showed grossly elevated tri-lineage precursor and product cell elevations, and my allele burden was 48%. I'm hoping to get another measure now that I've been on the maximum dosage of Besremi for well over a year now.

Best,

PA

[gdpone in reply to PhysAssist]

Yeah it kinda worries me. I have no signs or symptoms of MDS so I there’s that. I don’t know enough about BMB pathology to know if it’s just an uncommon finding or what. I would think so given the pathologist stated normal. I will be asking my MPN specialist next week.

It’s really crazy how this was found considering I started testosterone last year (since stopped) and that’s the only reason my numbers were as high as they were. Looking back at previous CBCs I have seen hct remain near the limit before within the last few years. This could easily have been missed.

Makes me wonder if there aren’t a lot of people who aren’t dx until 50s and 60s start around my age of 40. I’m hoping I can reverse this with besremi given the low allele. But I know that’s more a dream than reality but 20% chance is still a chance. Almost 1in5.

Oh I do need to mention I brought this up with my local hematologist office and they stated it’s normal. That was from a NP not the Dr though not sure how familiar the NP is with MPN although she does seem very competent.

[PhysAssist in reply to gdpone]

Hi gdpone,

No worries- it doesn't predict or diagnose MDS, just alters survival if present in MDS.

There is no evidence for MDS that I see. A quick search for BMB findings in MDS leads to: "The hallmark feature of MDS is a bone marrow aspirate and biopsy that reveals heavy infiltration with abnormal-looking bone marrow cells..." and "In most cases, bone marrow changes include hypercellularity with trilineage dysplastic changes. A small number of patients may have a hypocellular marrow. This often overlaps with aplastic anemia. Increased marrow fibrosis may be confused with other myeloproliferative disorders"

There as no mention of dysplasia at all in your report. FYI, in case you didn't know: bone marrow cell dysplasia means "blood cells or platelets in bone marrow that are oddly shaped or look different from healthy cells...."

I totally believe you're right regarding the really early stages of MNP/PV/ET, because that was my experience, however, I don't think it's a ton of people, given the overall rarity of these disease.

It's probably a lot compared to the total number with formal diagnoses of MPNs though. The thing is, I wouldn't have wanted to have been diagnosed any sooner, because I wouldn't have had the choice of taking an interferon for treatment. I would have just been relegated to undergo serial phlebotomies with or without hydroxyurea, which for me was very toxic.

I don't think reversal w/ an interferon is a dream, or that low of a probability, it just takes the correct diagnose, and allowing the time for treatment response. Speaking of which, given my Hct has persisted in rebounding to 49%, despite max-dosing of besremi, I'm contemplating a request to switch to pegasys. Also contemplating requesting repeat BMB to monitor whether ANY treatment effect has occurred v.s. progression.

Yes, the understanding of non-MNP specialists and their underlings is spotty at times. I lucked out in finding a PA at my local HemeOnc who has a good knowledge base and attitude. Don't settle- push for excellence!

Best,

PA

[gdpone in reply to PhysAssist]

I hope your finding are great and peg works better. Thank you for the information.