JAK2 Mutation - Effects and Questions

Yes. I meet annually with my hematologist. My primary care physician monitors my clotting factors. I also see a neurologist who is monitoring the blood clot.

Hello @kimmermat, welcome to Connect. You may notice I moved your discussion and combined it with an existing discussion titled, "JAK2 mutation effects and questions." I did this so you could read through the many posts by members on this exact topic as well as so those members could see your post and have a chance to introduce themselves to you and share their insights.

@kimmermat, while we wait for others to join in again, were blood draws the only thing discussed with your hematologist?

Hello,
About a year ago I was diagnosed with antiphospholipid antibody syndrome and JAK 2 Mutation following the discovery of a clot in my head. I am currently on coumadin and my other bloodwork has been normal. I know very little about JAK 2, however, I am aware that it can develop into cancer or other blood problems. The way it was explained to me by hematologist is that it may happen, but it's not a definite. Is there anything that I can do to be proactive other than having my blood drawn regularly?
Thanks so much!

Thank you.

A blood smear is normally used by a Hematologist to check for several suspected mutations. The JAK2 is the most common gene mutation that causes ET but there are other mutations that cause various MPN disorders. The molecular panel looks at 400 genes and will identify any blood gene mutation. According to the Sloan Cancer Center Leukemia Group the tests that they consider protocol include the bone marrow aspiration and biopsy and the molecular panel. In fact, that’s WHO protocol. Wishing you good luck. Let’s hope whatever you son has it’s treatable.

My son must have had the molecular panel because he does NOT have Jak2, but does have high platelet count (670,000).

The molecular panel is crucial because that panel looks at 400 genes to identify which genes have mutated.

Hello mjpm2406......thank you for the feedback in great detail. This is all so new to me and when I ask my Hematologist questions he tells me to let him do the worrying but now I am going to ask him about the bone marrow aspiration and biopsy. Thank you again this information has been very helpful..

I was originally diagnosed with ET based on a positive JAK2 bloid test. I asked the Hemotologist if she was going to do a bone marrow aspiration and biopsy along with a molecular panel. She responded no, that's not necessary. Being a researcher all my life I knew her diagnosis was not based on science so I went to Sloan Cancer Center and the first thing they did was the book e marrow aspiration, biopsy and the molecular panel. My final diagnosis is MDS/MPN overlap with Thrombocytosis. So I have two different blood cancers. MDS and MPN. On the MDS side I have a positive SRSF2 gene that causes my white blood cells to be abnormal. On the MPN side I have ET and a positive JAK2 which causes a high platelet count. I was put on Hydroxyurea which is designed to reduce your platelet count. After 4 months my platelet count is in the normal range. Unfortunately, there is no cure for MDS or MPN diseases absent a stem cell transplant. The good news is many people can live a long time with ET. As I understand it, there is a 30% chance ET and other MPN diseases as well as MDS diseases will mutate to AML or CML. That means you have a 70% chance your ET won't mutate. So live your best life. I do recommend you get a bone marrow aspiration and biopsy along with a molecular panel. Your diagnosis should be based on science, not the opinion of a doctor. Good luck.

Hi everyone, hope all is well. My name is Claire and I also have essential thrombocythemia with jak2 and would like to have the link to information for this. If anyone out there can help me with this I greatly appreciate it
N

I