I had a blood that showed elevated counts in RBC’s, hemoglobin, and hematocrit. I got referred to a hematologist who did the JAK2 test and tested my EPO. JAK2 test is not detected & EPO is normal. He suggested that I do not have a MPN, phew what a relief right? Nope. Told me I should give blood every 3-4 months if really concerned. On this group, You see that with PV you can still have it even though you’re negative to the JAK2 mutation? Like how can you have a “cancer” and not have any gene mutation 😂 this has to be the most confusing and complex disease in medical history or somehow someway they missed the JAK2 mutation lol. I’m not in a spot where I want to dump a ton of money into a bone marrow biopsy nor go through that type of procedure if not needed. Who knew a simple blood test would result in all of this. I’ve been dealing with this game for 6 months now & would love to just get on with my life & put this to rest.
Annoyed and Need to Vent: I had a blood that... - MPN Voice
Annoyed and Need to Vent
I’m triple negative with ET I had bmb toconfirm just do what you feel is right for you x
Yes, sorry but I have heard that triple negative ET is a thing. However, i haven’t really heard of PV that has no JAK mutation with EPO in the Normal range is that correct
I have no idea sorry I can’t help hunter is a man of knowledge and mazd
If your haematologist is happy to monitor you every three months or so, that's good isn't it? I hope you get a proper diagnosis soon.
As for just wanting to get on with life, I think we would all like that! Good luck!
You will see in the literature that 95%-98% of people with PV are positive for the JAK2 mutation. The vast majority of JAK2 positive cases are JAK2v617f. A few percent are JAK2 Exon 12 positive. There is a very small number of people with PV reported to test positive for CALR. That leaves about 2%-3% of PV cases that do not test positive for a driver mutation. In order to diagnose a JAK2 negative PV, causes of secondary polycythemia would need to be ruled out. A bone marrow biopsy would likely be needed as well.
I have a JAK2 positive PV, so I have not looked extensively at the issue of JAK2 negative PV. If you are interested. Here are a couple of articles on this topic.
ncbi.nlm.nih.gov/pmc/articl...
ashpublications.org/blood/a...
It is possible for a lab to make an error. It would be reasonable to repeat the JAK2 test. I would perhaps consider another type of test. We have a familial MPN in my/our case. My daughter and I are both JAK2 positive. I have PV that used to be ET. My daughter has ET, which looks like it may be moving to PV. My son has what now presents as idiopathic erythrocytosis. He tested negative for JAK2. My MPN specialist suggested doing a NGS study in his case.
Suggest getting a second opinion from a MPN Specialist. There may be a different kind of assessment that would yield more information in your case. It is worth knowing what your status actually is. Proper treatment is essential with any polycythemia. It is worth the bother and expense to ensure a proper diagnosis. mpnforum.com/list-hem./
Please do let us know how you get on and what you learn. Everyone can learn from what you learn.
Thanks Hunter. That first article you sent me, she was JAK2 negative with a subnormal EPO, which help confirm diagnosis. I have an EPO of 8 which I know is only minor criteria in diagnosis. Just spent a ton of money on the JAK2 test & would be a shame to go do it again, but oh well guess I’ll have to
With PV it is possible to have low-normal EPO and erythrocytosis present. That is how my PV variant presents. It is not at all clear whether that applies to your situation.
I have had multiple genetic studies done and paid a minimal copay on my insurance plan. Did your plan refuse to cover the genetic testing? That would be worth appealing if so. If you are going to be significantly out of pocket and your care team agrees that further genetic testing is indicted, I would be sure to consider which test to do to get the most value for your investment.
Hope you find answers soon and without undue expense and hassle.
at this rate, might as well get the bone marrow biopsy because then I could be negative for all those genes & then somehow have PV with no mutation at all. That way I’m not spending 3k on gene testing and then doing a biopsy
I expect a BMB would be recommended to look at bone marrow morphology as part of the assessment. Hopefully it will be covered by your insurance with no problem. Perhaps you can mount an appeal for coverage for further genetic testing if that is the issue you encountered. You really should not have been out-of-pocket 3K for what is a standard part of MPN assessment.
Wishing you all the best.
It could help to know your blood count numbers. WBC/RBC/HGB/MCV/RDW/Platelets. The EPO test result number. Your symptoms, if any.
The Jak2 blood test sometimes generates false negatives. Happen to me once and one other person I know.
EPO: 8 live in Evergreen, CO
JAK2 Negative PCR TEST
WBC: 10.3
RBC: 5.9
Hematocrit: 53.1
Hemoglobin: 18.3
MCV: 90
RDW: 11.7
Platelets: 369
4 weeks after phlebotomy
RBC: 5.22
Hemoglobin: 16.6
Hematocrit: 47.6
MCV: 91
RDW: 12.1
Platelets: 318
After seeing those numbers, I agree with your hematologist that you do not likely have a MPN. Reasons: Your EPO and RDW are totally normal and you test negative for driver mutations. If I were in your shoes I'd skip the bone marrow biopsy and further genetic testing for now. I would just have a complete blood count test done every 3-6 months and visit a blood donation center every every 3-6 months. I would hold off on the BMB until (if ever) your WBC stays consistently above 11.0, your RDW rises to around 14-15 and platelets rise to high 400's or higher.
I’ve seen some people’s CBC’s in this group who are JAK2 positive & when their hematocrit is at 43% or 45% their red blood cells are the same as mine (5.9) that’s why I’m skeptical. I feel like my RBC’s would be much higher if I had an MPN and my hematocrit at 53 or even 47 in that case. Depending on the lab you look at 5.9 is normal but up to 6.0
You might have a mild case of secondary polycythemia due to living at high altitude. It's not cancer. Here is a support group: facebook.com/groups/5701314...
Thanks for the link. I know only like 65% or something experience itching after showers or night sweats. I also don’t experience either of those nor do I have any fatigue, but also understand some people have no symptoms at all. My heam listed no englarged spleen or basophillia
what’s your RDW high when you were diagnosed?
I was 5 years late being diagnosed and my RDW at the time of diagnosis was 17.6 and my EPO was 4.2. and my Jak2 allele burden was 36%. Five years earlier my RDW was 15.1 and I don't know what my EPO was.
just checked lab work after 9 weeks from phlebotomy everything still in range & WBC now 9.4 however, my RDW is now below range at 11.5 interesting
It would be instructive, should you be willing, to know your counts to better assess your situation. @Monarch5000 did an excellent job on the matter of JAK2 - bottom line: it’s not likely but you can be PV/positive in the absence of the JAK2.mutation.
Suggestion: A BMB is the gold standard for determining if you have an MPN. I know it can be very costly and a bit discomfiting but it is generally conclusive - you don’t want to oignore this. If it is an MPN then, unfortunately, it isn’t going away in six months and will need close monitoring and, likely, meds and/or phlebotomy to delay further progression. Good luck.
aaagghh got to be something wrong if he says give blood.
Even then we MPN ers can’t give it!!
Second opinion needed x
I assumed he meant blood tests, not blood donation, but I may be wrong...
I have an Exon 12 mutation version of p-vera - still JAK2 but much less common . In order to test for Exon 12 mutations (there are several of them that produce p-vera), a "next generation sequencing 75-gene Heme panel" needs to be done. For diagnosis, usually docs test for the common v617f mutation first, then if its negative then you would do the 75 gene panel. Its more expensive (maybe $3000) and twice I had to fight with insurance companies for its reimbursement.
Did your doctor analyze for the 75 gene panel? He may not understand the semantics and may consider JAK2 just the simpler and less expensive v617f.
By the way, if you are only presenting high reds, hemaglobin, and hematocrit (not elevated whites and platelets), that is the typical signature for p-vera Exon 12 (which is the signature I have).
Good luck and hope you figure it out.
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