JAK2 Mutation - Effects and Questions

My hematologist submitted blood at a lab for 5 genetic tests after I suffered my 2nd blood clotting event. When the tests came back positive for the JAK2 mutation, I was called with the results. Since I have to see him every 3 months, my next appointment was coming up. I try to be proactive about my health care so I had plenty of time to do some research on what that meant and to develop a list of questions. My original research indicated polycythemia vera, essential thrombocythemia and leukemia. Since nothing had developed one way or the other since those lab results were originally performed a little over a year ago, my hematologist asked to re-perform and submit to a different lab to be sure the 1st test was or wasn't a false positive. I just got the results of the 2nd test this week.. It'll be another 2 months before I go back so I thought I'd look things up once again to refresh my memory and/or see if things have changed (treatment, progression, etc.). This was the 1st time I noted that the JAK2 mutation can develop into multiple diseases that are ALL classified as blood cancers. Previously, I thought only the leukemia was a cancer driven disease. In addition, myelofibrosis raised its ugly head in this 2nd search. I am, at this stage, trying to develop a new list of questions. I feel that the experiences of persons already dealing with this will help me be proactive in understanding what is to come and to really partner with my doctor in managing the mutation. I don't usually stress over things like this once I know what I'm dealing with. For me, in this case, information is power. So thank you for providing those additional links and anything else you may think would help me understand what may come. My hematologist has my confidence, but I'm usually the one to bring things up and ask questions. He gets tickled with me, but has been straightforward with answers.

In regards to your question #3, I have yet to find anywhere that has a use for the blood drawn from phlebotomies when the blood contains these mutations. Even the places that extract the plasma from blood do not allow people with polycythemia vera to donate (or at least not the ones where I have tried.)

Hello @ettap and welcome to Connect. It is good to see that you have confirmed your mutation twice, but are not currently experiencing any of the symptoms. If you don't mind, I am going to give a couple of quick resources in regard to a few of your questions:

- Polycythemia vera treatment: https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/diagnosis-treatment/drc-20355855
- Essential thrombocytosis: https://www.mayoclinic.org/diseases-conditions/essential-thrombocythemia/diagnosis-treatment/drc-20361131

This is also from Mayo Clinic, "The mutation that causes polycythemia vera is thought to affect a protein switch that tells the cells to grow. Specifically, it's a mutation in the protein Janus kinase 2 (JAK2). Most people with polycythemia vera have this mutation. The cause of the mutation isn't known, but it's generally not inherited. Polycythemia vera can occur at any age, but it's more common in adults older than 60."

@ettap, if you don't mind sharing, have those three specific hematological disorders been discussed with you by your hematologist? Has he or she mentioned myelofibrosis? I am not a medical professional and am in no way diagnosing, but myelofibrosis can be a result of a JAK2 mutation as well.