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JAK2 Mutation - Effects and Questions

Blood Cancers & Disorders | Last Active: Jun 19 5:59am | Replies (303)

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@mjpm2406

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.

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Replies to "I was originally diagnosed with ET based on a positive JAK2 bloid test. I asked the..."

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..