Mystery on hold

[Chaucer89]

Hey folks,

Been a while but I know some were interested after my weird encounter with MPNs, being at least temporarily diagnosed with PV as a child. I won’t write it all out again but it’s in my previous posts if anyone’s curious. Got distracted by a new mystery enlarged liver and other various medical fun so this is a bit overdue. Anyway, I saw the consultant last summer and got retested for JAK2 and it came out negative. So that’s now 3 negative, 2 positive. As we know negative JAK2 doesn’t mean no MPN so doesn’t clear much. My RBC is above normal but only mildly so at the moment her diagnosis is in her own words ‘if she does have an MPD then it’s not much of one’. I was told I was a fascinating case but they have no idea why I previously tested positive twice etc. She wasn’t keen to put me through another BMB with my counts so mild at the moment, so I’ve been diagnosed with secondary polycythemia for reasons unknown and will continue to have yearly blood tests via GP alongside my usual yearly thyroid checks to keep an eye on bloods and if something develops then we deal with it then. So there you go, mystery still open but I’m okay about it. Thanks to all for the support 🙂

[EPguy]

Vagueness can be unsatisfying. Has your Dr discussed "clonal hematopoiesis of indeterminate potential (CHIP)"

In this reference there is a good discussion of the vague pts including pts with very low Jak2 and without MPN

"The remaining 121/410 JAK2V617Fpts did not have a related diagnosis" with a mean VAF of 0.17.

Have all your Jak2 labs been at the same lab? Maybe your levels are near their limits of detection so that small changes would give different results.

I'm going thru my own set of vagueness,(see recent posts) although my misery level has been not vague.

--

ashpublications.org/blood/a...

[Chaucer89 in reply to EPguy]

I was only told the results via a letter that also discharged me from the department at the same time so I’ve not been able to discuss anything else in detail unfortunately. As anyone in the U.K. will be all to aware, it’s very lucky to get a face to face consultation at the moment and usually very brief unless something obvious is going on. I think I would need significantly more clear blood results before they would see me again.

The first 4 JAK2 tests were done back in 2005 at a different hospital, I believe through talking to others on here that I could of been one of the first people to actually get testing done for JAK2 because of this, I was under Professor Green at Cambridge, UK. So whether the positives came from the test being very new is a possibility though having two false positives would be odd. I’ve looked and my previous results for the first 4 just give the result ‘detected’ or ‘undetected’ so I’m not sure about levels and I’ve realised I don’t seem to have my most recent result for the latest test so I’ll send off for that to see.

I hope you manage to find answers to your own vagueness soon too. It does wear doesn’t it.

[EPguy in reply to Chaucer89]

2005 is the year Jak2 was first identified re MPNs. I think we discussed before. Testing methods have changed a lot since then. I think" ddPCR" is the latest version, and was not used back then. So those early tests could be suspect by today's standard.

"Digital droplet polymerase chain reaction (ddPCR) is a relatively new form of PCR".. that "identifies alleles that are less frequent than 0.1%"

older "qPCR isn’t as precise as ddPCR"

mogene.com/what-are-the-adv...

Understand on the NHS lately, so you'll have a hard time getting a modern test of exact VAF level. But seems likely to be quite low and if the latest modern one was negative that is a good place to be.

[Chaucer89 in reply to EPguy]

Yes, I think I’m happy enough for now with it that I’m okay just monitoring, as you say the latest negative test and my mild blood results is a good sign so will continue to monitor each year and if I see it changing will maybe investigate seeing a MPN specialist. I’m curious if I’ll be able to get a copy of the lab results from my latest test what information is on that so I’ll definitely chase that up.

[EPguy in reply to Chaucer89]

Agree, as in my edit, you for near sure did not get the current and accurate tech, so for this purpose it might be ok to discount those4 old ones vs the new one.

[hunter5582]

You do remain a mystery. Glad to hear you are not sweating it. I would suggest that you consider consulting with a MPN Specialist about which type of genetic test to do next time. Some are more sensitive than others. Some also look more broadly at the genome. There is some evidence on noncanonical JAK2 mutations that would be worth knowing more about.

Here is a very brief summary of the types of genetic tests for MPNs.

mpn-hub.com/medical-informa...

[Chaucer89 in reply to hunter5582]

I definitely think if I see my bloods changing/increasing over time then I’ll look into seeing an actual MPN specialist yeh, to get some more definitive answers. It does sit in the back of my head each time my yearly bloods come up but I think it’s a case of monitor for now and just try to keep living life regardless of what could or could not be!

[MAP44]

Wow! You are a special case, 🙂. Hope that you are feeling good and are enjoying your mystery status. Best of luck with your health in the future. ❤️. You have been dealing this for a long time already. 🍻

[Wyebird]

phew ! even though you are a mystery not being labelled with an MPN could make a huge difference to getting travel insurance

Let’s hope you continue to be a mild mystery MPN