All driver mutations negative

[cmc_ufl]

Finally meeting with my MPN specialist tomorrow. He called me today and told me my tests for JAK2, CALR, and MPL all came back negative. I am not sure whether this is good news or bad news.

I assume the next step will be BMB to see if I’m “triple-negative”.

All my bloodwork, including WBC, RBC, HC, inflammatory markers, iron levels, etc. is normal. Only thing elevated is platelets.

2008 (age 17): 380

2011 (age 20): 455

Jan 2021 (age 30): 3 tests 1-2 weeks apart: 437, 495*, 442 (*495 showed up while under immense stress from being told my hematologist I most likely have ET)

Two questions I’ve got:

1. Is it possible for someone to have platelets at these low-elevated levels and not have ET, or is it more likely I have one of the non-driver mutations in the background?

2. Is there any difference in prognosis or progression risk associated with triple-negative ET compared to those with one of the 3 driver mutations?

[JaneWayne]

I think these are good news! Do BMB for peace of mind.Of course I can't promise you that you're not triple negative, but maybe it's just the way you are?

Don't think to much about now about your possible prognosis as long as you don't have confirmation of an MPN. I know it's easier said than done, but I personally really think it's more likely your body works a bit different from others, especially because your levels didn't change for more than 10 years now. Try to be a bit relieved for the moment, you really just received good news!

[cmc_ufl in reply to JaneWayne]

Thanks, JaneWayne. I appreciate your positive perspective. I will let you know how my appt goes tomorrow.

[hunter5582]

Glad the hear you are meeting with the MPN Specialist. The doc will be able to answer your questions in more detail. The short answers are:1. Yes it is possible to have reactive thrombocytosis that is not a MPN. That is the point of doing the comprehensive assessment.

2. True triple-negative MPNs are likely a very heterogeneous group. It is likely not possible to say higher-risk/lower-risk. There will really just be your risk based on your profile if you indeed have a triple-negative ET.

There is active research looking at the triple-neg MPNs. The short version is that it appears that there are variations of the known mutation as well as possible other very rare mutations that are present. Suggest you not try to dive into that research until you know whether you need to. If you just can't help but to go look at things, suggest you watch the MPN Molecular Biology Presentation. It will provide a foundation to understand what you are looking at. mpninfo.org/conferences/201... .

Please let us know how the visit with the doc goes.

[cmc_ufl in reply to hunter5582]

Thanks, Hunter. You always have plenty of information. What about the fact that my platelets have been at this level for 10 years? Would that not rule out reactive thrombocytosis?

Will update you tomorrow with how my appt goes.

[hunter5582 in reply to cmc_ufl]

Not necessarily. If you have an undiagnosed minor/recurrent condition then it is possible. You may be in a situation where it will be a diagnosis of exclusion. Once everything else is ruled out, then it is triple-neg ET by default.

All you can do is be patient. Easy to say. Hard to do. Also be persistent until you get an answer. Having lived with a MPN for 30 years, I have had to learn all about patience. And persistence. And advocating for yourself.

Hope you get answers soon.

[mochapie]

I have been on this thread for a long time everyone is so wonderful and knowledgeable since 2015 my platelets have been slightly elevated in 2015 they checked me for a jak2 mutation which was negative my RBC my WBC and hematocrit levels are always normal my platelets have always been elevated

they even checked me for an autoimmune disorder like ra and lupus and that's all negative just recently 6 years later I was just checked an extensive blood work over $2,000 and it checked for calr jak2 mutation and MPL and all of it came back negative which makes me so happy and my hematologist told me you're just somebody who's platelets Run High I am also about a hundred pounds overweight and have been for about 20 years but I've never had an anemia before and I do have that now so she's thinking that this is reactive thrombocytosis not ET

Which is what it sounds like you probably have as well I was told by my doctor and hematologist sometimes platelets just run High as long as all your other blood work is fine but my hemoglobin is low so I am definitely anemic stage I and they want me to take iron pills which I absolutely hate now they're talking about an iron transfusion not thinking I'm going to like that either hopefully all you have is anemia as well. Have you been checked for it. I would love to know other people that have anemia on the thread mine is only slightly anemic so I don't understand the need for iron transfusion I know better safe than sorry but can't people just live with anemia although I have to say feeling hyper shaky nervous jittery and now I'm getting cold feelings in my hands and toes and blurry vision so I guess I answered my own question

[nightshadow in reply to mochapie]

I had to take two iron pills a day to correct for low iron levels before my doctor settled on a diagnosis of ET. I had trouble taking iron tablets before, and ended up with infusions that time.

This time my doctor recommended taking them with orange juice (I took it with a couple of slices of orange instead) instead of the calcium as recommended on the bottle. It made a world of difference.

Calcium inhibits iron absorbtion, so I don't know why they recommend taking them together, perhaps to protect the stomach lining, but I didn't notice any difficulty in that area.

So before going with the transfusion, give the orange juice a try. The worse that can happen is temporary discomfort.

[mochapie in reply to nightshadow]

Thank you so much for the info

[Wyebird]

When my blood was normal 10 years prior to diagnosis ( frozen for reasearch my heamo examined it.She said you can have ET with out raised platelets.

To me that can make sense. If your ‘normal’ level is very low then they could rise very very slowly whilst still in ‘normal range.

[Manouche]

« Patients with triple-negative, JAK2V617F- and CALR-mutated essential thrombocythemia share a unique gene expression signature »

ashpublications.org/bloodad...

[cmc_ufl in reply to Manouche]

This is kind of scary. They found 22% of triple-negatives (as determined by clinical testing) actually have detectable driver mutations using NGS. Makes me question the accuracy of the tests I received.

[JaK2ET]

This aspect has probably already been covered by your doctors but if not ...

Has your vitamin D level been checked? I have read that vitamin D deficiency or insufficiency can cause raised platelet levels.

[cmc_ufl in reply to JaK2ET]

Everything showed up fine on my metabolic panel. I take a multivitamin every day with a large excess of vitamin D, so it is likely not that.