I was told by a haematologist last week that I tested positive for JAK2 and that I have an MPN. It's taken until now to get over the shock. I have so many questions and hope that you kind people can help me out.
I have a history of high platelets (over 620) consistently and that why I was sent for more in depth blood tests. I'm scheduled for a bone marrow test in a couple of weeks. In the meantime I've to take 500mg of Hydrea daily to get the platelets down. I don't have any of the listed symptoms apart from bruising very easily
Now for the questions -
How did the consultant know I have an MPN ? A friend's husband tested positive for JAK2 the same week as me and his GP told him that it's not cancer and he just has to increase his blood meds. I'm confused to say the least.
Is the bone marrow test to discover which MPN I have ?
Are MPN's diagnosed in stages, will I be told it's Stage 2 or whatever ?
How long did you have to wait for results of your BMT ?
Apologies for all the questions but my head is all over the place , I'd be grateful for any feedback.
Cheers
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Janglo
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hi my bmb told me I have triple negative ET I waited about 4 weeks for results I’m 69 next week my symptoms are itchy skin high platelets now controlled by hydroxy cabamide 1 500mg daily and blood thinner daily I also bruise easy. Wishu lots of luck on your journey this is a great forum x
Yes it is a shock to be told you have cancer. Until a few years ago MPNs were considered blood disorders , hence confusion. GP s usually don’t know much about our type of cancer…
I was diagnosed with JAK2 positive just from blood tests .
Others will give you answers to your questions . Just wanted to say hello …
Hello and welcome to the forum. Glad you found your way here. It is a great place to find support and information from a patient perspective.
To answer a few questions.
If you have thrombocytosis and test positive for JAK2 and do not have a cause for secondary thrombocytosis, then the diagnosis is Essential Thrombocythemia. here are the criteria for ET.
1. Sustained platelet count ≥450 × 109/L
2. Presence of an acquired pathogenetic mutation (eg, in the JAK2, CALR or MPL genes)
3. No other myeloid malignancy, especially polycythemia vera, primary myelofibrosis, chronic myeloid leukemia, or myelodysplastic syndrome
4. No reactive cause for thrombocytosis and normal iron stores
5. Bone marrow aspirate and trephine biopsy showing increased megakaryocyte numbers displaying a spectrum of morphology with predominant large megakaryocytes with hyperlobated nuclei and abundant cytoplasm; reticulin is generally not increased (grades 0–2/4 or grade 0/3)
Diagnosis requires the presence of criteria 1–3 or criterion 1 plus criteria 3–5.
It is possible to have the JAK2 mutation present but not have a MPN. This is referred to as Clonal Hematopoiesis of Indeterminate Potential (CHIP). This is a topic of ongoing research. Hard to say about your neighbor since we do not know whether he evidences symptoms of a MPN. Note that some doctors are not up-to-date on MPNs and do not realize they are considered blood cancers. Hopefully, he has been evaluated by a hematologist competent to treat MPNs. MPN care is outside of the scope of a GP.
The bone marrow biopsy can help determine which MPN you have. It is not alway necessary but can help distinguish ET from PV. It can also determine the current level of fibrosis and distinguish Pre-Myelofibrosis. Getting the results can take several weeks or longer in some places.
Myelofibrosis is diagnosed in stages. ET and PV are not, although there are certainly differences in the level of severity. WHile not technically a stage, the JAK2 quantitative analysis is relevant in determining your mutant allele burden (AKA variant Allele Frequency). This can be done from blood of bone marrow biopsy. This will show as a percentage on the lab results. It is the percentage of hematopoietic stem cells that carry the JAK2 mutation. Note that no all of them do. Some are wild-type (normal).
MPNs are rare disorders. It is important to consult with a MPN Specialist in order to ensure optimal care. Here is a list of doctors with this expertise. mpnforum.com/list-hem./
hope that help to answer your questions. All the best to you on this journey.
My husband was diagnosed through a routine MOT his blood was so thick and sticky the laboratory sent a report to his doctor so he was diagnosed fairly quickly.
He was then sent to a consultant who done further blood tests to see if he had the jak2 . These tests came back he was positive for jak2. He had a diagnosis of PV.
He had venesections for about two year then went on hydroxy this absolutely drained him. After three years he was told he needed a BMB this showed primary MF .
He then had stem cell transplant tests and they found 9 unrelated 10/10 donors on the register. The consultant told my husband he may never need a transplant and they would try him on ruxolitnib.
He's been on ruxolitnib 4 years this month and it certainly has been a life changer. His spleen reduced in size and he has more energy .
My husband was told 10 years ago this MPN is a blood disorder but after research they are actually blood cancers the N stands for neoplasms which means new growth.
The MPNs used to be called MPD which the D stood for disorder . So this was regrouped and they changed it to MPN.
I can totally understand how confused and worried you must be. You have come to the right forum as people have had these MPNs over 20 years and they can be managed .
My husband waited about 4 weeks for his BMB results x
Sorry to hear about your diagnosis. I have ET and JAK. I 75 mg aspirin daily plus Hydroxy - platelets are about 520. I take 1 x 500 Hyroxy daily and 100 Hydroxy on 3 other day to try and get platelets to under 450. BTs and phone call from hemo every 2 months. Mostly feeling OK. hemo wants me to have a bone marrow biopsy but I have put this off until I know more. Also hemo stressed that medication is for life, which worries me. I would at least like to get the HY down to one x 500 a day. Check with your hemo if you should take aspirin - don't take it without asking. HY is an oral chemo and ET is classed as cancer but there is a query about whether it should be. hope all goes well for you.
Like so many will say, make sure you get a haematologist that is an mpn specialist. That goes for your friend's husband as well. There are several good ones in Ireland. I don't know how old you are but that also may have a bearing on treatment. Also it is not all doom and gloom. Many people have decades with little active treatment. When you feel able, search this website together with mpnvoice and you'll see quite a mix of experiences
hi and Welcome, it’s a huge shock to the system to be told you have a blood cancer . You have managed life really well with platelets in the 600 where as I didn’t.
I’ve read other replies and they are full of relevant info . The only things I’m going to add is that if in England when diagnosed with cancer your prescriptions are free. I’m not sure how the EU works.
The other thing is no matter how trivial you think your question is post it. You might even touch a topic others have been wanting to discuss.
Lastly go onto MPN.org.uk it’s full of fantastic information and support. They organise forums and keep you up to date with trials and info. The people associated with it mostly work voluntary and along with this site they are my life line.
I was diagnosed with ET from my bone marrow biopsy (BMB) and blood test with Jak2. Months later was told it was PV because my reds started climbing along with my platelets. I had blood withdrawn ( phlebotomy) several times and now I am on Pegasys ( 1 injection weekly) a type of medicine that is not HU a chemo pill. All bloods are in check, I feel great and lead a healthy lifestyle. Also take baby aspirin each day.
I see an MPN specialist ( lucky she is my main hematologist) and my GP is learning from her as I am her first office diagnosis of this kind of thing.
Thank you all so much, I'm blown away by all the responses. Thank you all so much for the advice and good wishes, I've definitely come to the right place. Before I read them all in detail a bit about me. I'm 62 and had a stroke 5 years ago. It came as a massive shock as I am quite fit and look after myself. I cycle to work (9km each way) every day, I walk a lot, never smoked and have a decent diet. The cardiovascular prof could not understand why it happened, it was a unusual stroke that occured deep in the centre of my brain. Thankfully I had no side effects and returned to my normal life. He asked me to participate in a European wide Clinical research trial . There are 2000 people on the trial who all had strokes and didn't tick the normal boxes and the aim is to find why we had strokes. I attend about 3 times a year for bloods etc and was always aware of my high platelet count. They suggested seeing a haemotologist and that's how I came to be diagnosed last week. I consider myself extremely lucky to have been on the trial.
Now I'm obviously moving onto a new chapter and I'm so glad that my consultant recommended this site. I'm going to make a pot of coffee, sit down and read through all of your responses. Thanks again xxx
Good luck to you! I had a heart attack at 57, which was also likely caused by, at the time, undiagnosed PV, which is what I now know I have. I am now under the care of a hematologist and a cardiologist, and they are both in the same health system (here in the US) so they share notes, which is great. It is always a shock to get a diagnosis like this, but in my case it explained the heart attack, and in yours may explain the stroke you suffered. Good luck going forward, and this community is a great resource!
I'm sorry to have to say welcome to the 'MPN Club', but only because no one really wants to be diagnosed with something that is life-changing. However in your case, it might have actually been life-changing long before diagnosed, because one of the hallmark signs/symptoms of MPN's of every stripe is unexpected clots in unexpected cases.
In fact, you are more in the norm here, than am I. I was diagnosed with polycythemia vera [PV] last May at age 63 without having had any untoward clotting events- likely because I have taken 81 mg of aspirin [enteric-coated] and worn compression stockings [knee-high] daily for at least the past 10-15 year because of having venous insufficiency in my legs [left > right because of numerous surgeries].
My goal in seeking treatment for PV is to balance quality and quantity of my predicted life expectancy, especially given that I am a member of the over-60 group, who are classified as 'high-risk' [just by that age determinate,] despite my overall general good health- and it sounds like you are as well.
That's why although I accepted taking Hydroxyurea/Hydroxycarbamide initially, after some research, I was determined that it would only be until I could find an actual MPN specialist [as Hunter said], I found one in my 'local' area here:
mpnforum.com/list-hem./
...who agreed to put me on an interferon [INF] . I wanted this because they [INFs] are the only medications that have been shown to actually be disease-modifying,. I.e., they can do more than just prevent thrombosis [clots], they delay or prevent disease progression, as no other medications have been shown to do. Now I'm taking Besremi every 2 weeks, and awaiting finding the dose that keeps my counts controlled and decreases my allele frequency [which was 39% per my bone marrow biopsy [BMB] in 7/22\.
This is why in theory at least, the allele burden is important:
The current knowledge on the clinical relevance of mutant allele burden enables tentative explanations of both correlation with disease presentation and correlation with disease-related symptoms or complications. Concerning the correlation between allele burden and disease presentation, we first described that the distribution of allele burden was different within myeloproliferative neoplasms. Patients with ET have the lowest allele burden, those with PV and PMF an intermediate one and those with post-PV myelofibrosis the highest burden. This pivotal concept was further validated by other investigators. Given the wide spread of allele burden, PV represents the ideal model for studying clinical correlations of mutant allele load. A higher burden of JAK2 (V617F) unequivocally induces enhanced myelopoiesis, with patients developing leukocytosis. Concerning erythropoiesis, a linear relationship between allele burden and hemoglobin concentration has been documented in some studies, but not in others. In this regard, it is interesting to note that patients with PV that has evolved into myelofibrosis have the highest allele burden and almost all have anemia.
Thrombopoiesis is particularly stimulated by low allele burden, as an inverse relationship between allele burden and platelet count has been reported. This is in keeping with the low level of mutant alleles found in ET patients, whose clinical phenotype is dominated by thrombocytosis. Finally, all studies reported a correlation between allele burden and spleen size, confirming the role of mutant allele burden in stimulating myelopoiesis. Allele burden correlates linearly with leukocyte count and spleen size also in patients with ET and PMF
I was diagnosed with PV over 2 years ago. And did not have to have a BMB. I saw Dr. V one of the world leading experts in MPNs at MD Anderson. The first time I saw him he did some crazy special panel of labs that is unique to MD Anderson. To be honest not sure all he checked for! I tried to view it online but it wouldn’t let me. He is still so reassuring and positive! I started Besremi this week. You will probably see that drug show up on this site quite often. Good news is I see more and more being approved to manage these diseases and this site has helped me immensely. Love seeing people posting about new trials, new approvals. Good to know we all have options when just a few years ago we didn’t. Good luck! These people on this site are so helpful. Make sure you see a MPN specialist. I think that would be the advice we all will give you. I wouldn’t do anything til you see one. As you may end up undergoing unnecessary procedures.
I have ET Jak2 positive. I have been on 500 mg daily Hydrea since 2013. It has brought my platelets down in the 400's. I don't have any side effects. I also take a baby aspirin daily. If you want, give it a try .Best of luck to you 😊
Welcome to the club (so to speak). I found this site shortly after being diagnosed and it has been a godsend for information from the patient's perspective.
I have ET JAK2 positive which was diagnosed by blood tests and have not had a BMT to verify. Depending on what your friend's husband's current medications are, that could be an appropriate treatment for the high platelet count, or not. If possible perhaps he should see an MPN specialist just to make sure.
I have been on Hydroxyurea since diagnosis a couple of years ago and it works well for me. It may take some time before they get to the proper dosage, for me it took about 8 months before we got a good balance between platelet count and side effects.
I applaud you for your good health habits, they probably pushed back the age at which you got your stroke. I hope that you don't get the fatigue side effect from the Hydroxyurea, I had the symptom of extreme fatigue and brain fogs from the ET for several years before being diagnosed and lost a good deal of muscle mass from lack of exercise. I am still feeling laggardly in getting back to what I had been.
Hi, try not to get completely overwhelmed by your diagnosis. I was 42 when they found the high platelets by a routine blood test. Back then they did not call it a blood cancer but rather a blood disorder which I still call it when talking to others. I am now 62 (your age) and have been leading a healthy normal life with very little symptoms. My MPN specialist is probably the leading expert on PV in the nation (Dr. Tefferi) I've been on low dose aspirin and phlebotomys (about every 3 months) for the last 20 years. Find a good MPN specialist!
The drugs you will read that others are taking on this forum to lower their counts did not work for me. What you will find is that PV/ET affects all of us differently. You need to find what works best for your body. Like you I am extremely healthy, work out 2 hours daily, eat healthy, and make sure I get enough sleep. When I turned 60 (considered a risk factor) I went on two low dose aspirin instead of one. My platelets hover around 1000 and have recently had a BMB which did not show any progression or other mutations that might lead to progression. It was a very positive BMB. Please note that I do not have personal or family history of strokes/clots. Your doctors will probably want to be more proactive due to the stroke you had. Learn about all this slowly and in the mean time keep working out, stay positive and understand that most people don't die of the MPN but die with it! Kerry
Welcome to the forum. It all sounds really scary but it is more about controlling it and it really isn’t that bad. Worth reading up on other meds available when you feel ready. I am on Pegasys which works very well for me. We are all here to help so please do
Well I've had time to read the wealth of advice and information you have all given me. I feel so much calmer and I've stopped thinking about wills and funerals. You have all made me realise this is something I can live with. I am very happy with my consultant and her team, I feel I am in good hands. Thanks Hunter for explaining the diagnosis criteria, it makes a lot more sense. I've spent the last couple of days getting used to all the new terminology which I'm sure will become very familiar with as time goes on. My BMB is scheduled for 1st March and then I will know for definite what I am dealing with.
Thanks again for reassuring and educating me. It's great to know I am not alone xxx
oh Janglo I felt exactly the same all doom and gloom feeling I was ready for off.Then I found this sight feeling so much better and now I have a future.Lovely to talk to you.Renember we can Party (yay)xx
hello Janglo and welcome to our forum. It can be very daunting when you are newly diagnosed, there is such a lot to understand, I hope that the information on our website is helping you, mpnvoice.org.uk. And as you can see from the many replies you have had, there are lots of us with MPNs so you are no longer alone, we are here to help and support you. Best wishes, Maz
Well hello everyone, just giving you an update. I had the Bone Marrow test today and I'm glad it's done. It was unpleasant and slightly painful but it was over in about 10 minutes so not too bad. The samples go to Germany for analysis because we don't have the facilities here 🙄. It seems ridiculous but there ya go. I'm going to put it all out of my mind until the results are due in 3 weeks. In the meantime, my platelets have dropped from 625 to 400 so the Hydrea is obviously working. I've been feeling ok since I started it in January. Occassional tiredness and I'm feeling the cold a bit more. I'm always roasting but have actually used the heater in the office recently !! I have a couple of nice family events coming next week so I'm going to relax and enjoy those.
Thanks for the update- I had a similar experience re: the BMB, but in retrospect, wished they had told me to take the day after it off from work- I was very sore in a bunch of places- more from the positioning and such, than from the actual site and procedure itself. [Also likely d/t my old bones and joints being without my NSAID of choice in prep for the pricedure...]
With that caveat, I would not hesitate to undergo it again if my MD suggested it, and I think that I may want to have another in 5 years or so to track what progression if any [hopefully none thanks to INF] has occurred. in the interval.
Do let us know what the Germans [😎] have to say about your results.
Well the results are in - I've joined the ET gang. I met the consultant yesterday and the bone marrow test confirmed what she thought. If I have to pick a blood cancer I suppose this would be the one. The Hydrea is working, platelets are hovering around the 400. She is happy with this so I'll remain on it for the forseeable. Bloods to be done every 6 weeks and that's about it. I'm relieved to know what I have as this has been hanging over me for weeks.
I feel very happy with the Consultant and her team, they answered all my questions, explained everything clearly to me so it's all good.
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