JAK2 Mutation - Effects and Questions

My father passed away from a battle of myelofibrosis (MF), over 10 years after being diagnosed with enlarged spleen and 6 from diagnosis of MF. I am nearly 9 months post immunotherapy treatment for stage 3 melanoma treatment (discovered in lymph nodes without known source). During a post treatment CT scan the radiologist identified my enlarged spleen, which is not typical of melanoma, but could be a side effect of immunotherapy (very rare and limited literature). My oncologist was dismissive of the genetic potential for me to have MF, like my father. Additional observation of my spleen showed continued growth and my oncologist finally discussed with another who suggested a JAK2 mutation blood test. You can see where this is headed; I was notified yesterday that I have the JAK2 gene mutation. I am 47. I am in good health; other than previous melanoma (nearly 2 years from discovery) that I have battled and praying for a very good prognosis on that front shortly! My melanoma specialist is being reassigned and I will be headed to another hematologist that is very familiar with my family history of cancer. As my medical group sends test results directly to the patient as soon as they are received I have yet to discuss with my Dr. I presume I will have a bone marrow biopsy to determine stage, if any, at this point. I am jumping to the MF diagnose myself; treatments for early stage, ongoing studies or any suggestions to extend this wonderful life are appreciated. As with melanoma, the treatments are expanding by the day, I will not hang my head in fear, but give this godforsaken disease a damn good fight. Too much to live for to live in fear.

I have been on HU for nearly 28 years. I have had some issues, but nothing really that wouldn't come along with aging anyway. I started HU when I was 39 and still take 500 mg/day plus an 81 mg aspirin. It's kept me going!

My daughter was diagnosed wit JAK2 October 2020
She hasn’t had any clotting yet so praying they got it before it started. She did have IV Iron 5 times since and she takes aspirin everyday to prevent clotting. She sees her oncologist in March and we’re hoping her blood is flowing freely. Prayers for you to be well.

I traveled as usual and flew places in 2020 and enjoyed many wonderful experiences with family and friends. I also had COVID in November, which I contracted from my 85-yr-old mom when she was released into my care from a rehab facility, not knowing she had COVID! I had an extremely mild case, as did my mom and husband. Over the 30 years I've had JAK2+ ET and taken hydrea, I've chosen to live as normal and not in a state of fear and trepidation. Some countries won't let you in right now with COVID restrictions, but I'm hoping for Iceland this summer! The more you worry and fret about this, the worse it will feel. So go on and live your lives! Could be much worse!

I have JAK2+ ET and I've never had side effects from Hydrea in the 30 years I've taken it. It has only improved my health, so don't assume it will make you feel worse. For me, it only made me feel better!

I have had ET and taken hydrea for nearly 30 years now. I am currently 66 and found out somewhere along the way that I also have the JAK2 mutation. Very few people I've known throughout my lifetime even know I have this condition, as I choose to take my meds, get quarterly CBCs, consult with my hematologist and live life as fully as possible! No worries! Take courage, everyone! There are WAY worse things than this in life 🙂 I rarely even think about it!

Hi @nolan, welcome to Mayo Clinic Connect. You'll notice that I moved your message to this existing discussion about the JAK2 (Janus kinase 2) gene mutation. I did this so you can connect with other members like @wa34937 @mjpm2406 @godschild56 @barbie75 and others.

Alterations in the JAK2 gene can cause conditions such as Crohn disease, essential thrombocythemia, polycythemia vera, primary myelofibrosis and others.

You mention that you've been prescribed hydroxyurea (Hydrea), which can cause the side effects that you describe like burning in hands and feet; leg wounds or ulcers; pain, itching, redness, swelling, or blisters on the skin; and mouth ulcers. Nolan, have you been diagnosed with essential thrombocythemia (ET) or polycythemia vera?

I was diagnosed with Jak2 in 2019 and have been taking the hydra drug and I experience several side effects. Mouth ulcers, skin sores and irritations. Place me on antiviral meds to try to help prevent but still get these. I am experiencing extreme burning in my toes that is worsening. Is there anyone out there who has Experienced the burning in the toes or feet and what has been used to treat it?

Hello, was diagnosed with PV due to very high platelet count that led to 2 mild strokes. Am very healthy person overall and surprised that I had 2 mild strokes which lead to PV diagnosis. My main issues were extreme fatigue and an itchy back. Am now doing fine taking1 hydreau pill day and platelets in normal range. Did anyone else have a stroke as a result of undiagnosed high platelet count?

I have just been diagnosed, ET with JAK2 mutation....he wants me to start on Hydrea...it is reassuring that you are not having major side effect issues with it....I already have several symptoms of the disease and can't figure out why i would be taking a medicine that will not help get rid of the symptoms, but could increase them??? very confusing.....