JAK2 Mutation - Effects and Questions

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?

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/

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.

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.

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

@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.

@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.

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.

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

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??