JAK2 Mutation - Effects and Questions

Posted by ettap @ettap, Mar 29, 2018

Have JAK2 mutation verified twice; one year apart and from different labs. As I understand, it may cause polycythemia vera, essential thrombocytosis, or leukemia. My hematologist has not provided any real info on this mutation so I've been researching via internet. I knew leukemia is cancer but was disappointed to find out today that the other 2 are blood cancers as well. I have been seeing a hematologist every 3 mos. about this since my 2nd blood clotting event in 09/2016. To date, all my blood factors have been in the normal range. Here are some of my questions: 1. Is it typical to verify this mutation well before it triggers one of these diseases? 2. I know early detection of cancer can be a real plus, but is there any research or experience that supports proactive steps that can be taken to deter the onset of any of these possibilities? 3. With polycythemia vera and essential thrombocytosis, is blood letting the primary treatment? If so, can the blood be donated? 4. Since none of my blood factors have ever been out of the normal range to date, no specific result of the JAK2 mutation has raised its ugly head. Is this normal? I'm not typically a worrier. In fact, I do really well with things like this once I know what I am dealing with. Information becomes my sword which allows me to take worry and nip it in the bud.

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Hello all. About a year ago, I had a nephrectomy due to renal cell carcinoma. Since then, I've had bleeding events, high WBC count (up to 25,000), corresponding high granulocyte counts, and slight anemia, and overwhelming waves of nausea. My oncologist always chalked it up to stress and anxiety. But, recently did a test for JAK2 mutation and it came back positive. I found out about it online from the diagnostic lab results, my oncologist refuses to talk to me about it on the phone, and now need to wait weeks until after the holidays for appointment. Of course, this leaves me to searching the internet and trying to piece together information– never a good thing! I can see this mutation is positive in X% of patients with PV, ET, PMF, but what I'm trying to figure out is the opposite statistic– what is the possibility that I HAVE this gene, but DO NOT have any problems associated with the gene. I know that nobody can diagnose me online, but wondering if it's POSSIBLE to have the mutation with no associated disease?

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Hello @apr931,

Welcome to Connect. You may notice that I moved your message to combine it with this existing discussion on JAK2 Mutation. I did this as I thought it would be beneficial for you to be introduced to other members who have discussed JAK2 Mutation.
If you click on VIEW & REPLY in your email notification, you will see the whole discussion and can join in, meet, and participate with other members talking about their or their loved ones' experiences.

You pose a very interesting question, and I hope that members participating in this discussion will return with some more information for you. As you mentioned, after doing a bit of research online here’s what I also found – people can carry the mutation and not develop MPNs (myeloproliferative neoplasm), while others who do not have the mutation may still suffer from an MPN. There seems to be considerable uncertainty about prognosis in JAK2 positive individuals without overt signs of myeloproliferative disease. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562533/

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@kanaazpereira

Hello @apr931,

Welcome to Connect. You may notice that I moved your message to combine it with this existing discussion on JAK2 Mutation. I did this as I thought it would be beneficial for you to be introduced to other members who have discussed JAK2 Mutation.
If you click on VIEW & REPLY in your email notification, you will see the whole discussion and can join in, meet, and participate with other members talking about their or their loved ones' experiences.

You pose a very interesting question, and I hope that members participating in this discussion will return with some more information for you. As you mentioned, after doing a bit of research online here’s what I also found – people can carry the mutation and not develop MPNs (myeloproliferative neoplasm), while others who do not have the mutation may still suffer from an MPN. There seems to be considerable uncertainty about prognosis in JAK2 positive individuals without overt signs of myeloproliferative disease. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562533/

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Thanks for the article. It was useful. It seems to me when discussions get moved, they are just buried in old discussions, so I'm not sure this will not get any replies other than that of the moderator. But, I appreciate the article you did send. It is very useful, and along with some other internet research, indicates that it is possible to test positive for the mutation without having overt disease. Given my consistently high WBC counts, I'm going to *guess* that the mutation has already had some effect, but will have to wait for a bone marrow biopsy to be certain. And, my allele burden is significantly above the cut off typically given for "mutation in healthy individuals" …although my testing was done in purified granulocytes, while the articles report testing in whole blood, so I'm not certain if the numbers can be meaningfully compared. Ugh! I have just enough information to be worry over the holidays, without enough information to have any sort of a plan.

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@apr931

Thanks for the article. It was useful. It seems to me when discussions get moved, they are just buried in old discussions, so I'm not sure this will not get any replies other than that of the moderator. But, I appreciate the article you did send. It is very useful, and along with some other internet research, indicates that it is possible to test positive for the mutation without having overt disease. Given my consistently high WBC counts, I'm going to *guess* that the mutation has already had some effect, but will have to wait for a bone marrow biopsy to be certain. And, my allele burden is significantly above the cut off typically given for "mutation in healthy individuals" …although my testing was done in purified granulocytes, while the articles report testing in whole blood, so I'm not certain if the numbers can be meaningfully compared. Ugh! I have just enough information to be worry over the holidays, without enough information to have any sort of a plan.

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You may find that despite having the JAK2 mutation, your life may not be any noticeably different. I'm now on three years with a diagnosis of polycythemia vera and other than monthly blood lab work and regular phlebotomies, my life has remained relatively unchanged. I'm still very active — I am still able to work as a soccer referee. You can go for decades managing the condition without having any significant changes in your health and the way you feel. Support your overall general health by eating well, getting exercise, and simply taking care of yourself.

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@chadknudson

You may find that despite having the JAK2 mutation, your life may not be any noticeably different. I'm now on three years with a diagnosis of polycythemia vera and other than monthly blood lab work and regular phlebotomies, my life has remained relatively unchanged. I'm still very active — I am still able to work as a soccer referee. You can go for decades managing the condition without having any significant changes in your health and the way you feel. Support your overall general health by eating well, getting exercise, and simply taking care of yourself.

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Thanks chadknudson. It's great to hear a positive experience, and your response makes me hopeful that the effects will be minimal.

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@ettap
I was wondering if you could give me any updates on your case. I have a similar case, jak2 postive , was told i have ET although my latest blood test was all within normal range. Usually have high platelet counts, just a little higher than border line. I feel normal, but worried. Im on baby asipirine once/2days. The more you read the more you freak out.

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@misty45

I'm happy to share my experience. #1. No, do not need to give blood. The Hydrea is toxic enough to kill the excess platelets. #2. I have experimented over the years to cut back a little from the prescribed dosage simply to minimize the amount of toxicity I'm consuming. My Docs have not liked this kind of fooling around with the dosage. So I've been steady at 6 days a week, no Sundays for about a year. No side effects from the Hydrea after the initial first month twenty years ago. #3. I still have no symptoms of this strange blood disorder called ET, regardless what my count is on any given day. I go every 3 months for a cbc. It puzzles me that at 72, I still feel the same with a count of 480 as I did at age 40 when I was diagnosed with a count of 800. #4. My two Docs (first one retired) have dangled the ultimate fear over me since the diagnosis, but so far my ET has not morphed into leukemia. Having no symptoms and in disbelief, I went to the Scottsdale Mayo Clinic for a second opinion at some point in the 1990s. Same diagnosis. Very disappointing because I was really convinced that nothing was wrong with me. Thanks for sharing the NIH info. I always like to run across updated information on PV,ET, and other blood disorders. You may never progress to anything more advanced. Best wishes.

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@misty45 Thank you so very much for sharing your ET experience. My daughter ( age 39) was diagnosed with ET a few months ago- not JAK2 but CALR. She started Hydrea 1 pill – platelets went from 1.5 million to 900,000 added another 1/2 pill every other day – platelets down 800,000. Due to the long term use of Hydrea she changed to interferon. After 3 weeks on interferon her platelets are back to 1.2 million. Can you tell me how many Hydrea pills you take each day? I am thankful you are responding to the Hydrea and no symptoms.

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Hi, I'm jumping in because I have ET with Jak2 positive. I am on Hydrea 500mg a day, 4days a week and a aspirin daily. I don't think I am having side effects but I also have COPD & new stomach issuses , which the stomach upset could be related to the Hydrea but there has been no confirmation.

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I have a question and this might already have been discussed but has anyone ever had back spasms/ left side back pain, left shoulder pain and or neck pain?? I Have MS in my Brain and had pushed it off to but now i am questioning if the Jak 2 is causing it. Any suggestions or thoughts? TIA

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@ajordan1982

I have a question and this might already have been discussed but has anyone ever had back spasms/ left side back pain, left shoulder pain and or neck pain?? I Have MS in my Brain and had pushed it off to but now i am questioning if the Jak 2 is causing it. Any suggestions or thoughts? TIA

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The other thing i am wondering is at what age where you diagnosed and what the treatments have been?? My doctor wants to take pints of blood monthly from me (which hurts and leaves my veins hurting) because medication is not an option as would have to be on it for the rest of my life. What is everyone else doing??

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