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ettap
@ettap

Posts: 6
Joined: Mar 29, 2018

JAK2 Mutation - Effects and Questions

Posted by @ettap, Thu, Mar 29 10:33am

Have JAK2 mutation verified twice; one year apart and from different labs. As I understand, it may cause polycythemia vera, essential thrombocytosis, or leukemia. My hematologist has not provided any real info on this mutation so I've been researching via internet. I knew leukemia is cancer but was disappointed to find out today that the other 2 are blood cancers as well. I have been seeing a hematologist every 3 mos. about this since my 2nd blood clotting event in 09/2016. To date, all my blood factors have been in the normal range. Here are some of my questions: 1. Is it typical to verify this mutation well before it triggers one of these diseases? 2. I know early detection of cancer can be a real plus, but is there any research or experience that supports proactive steps that can be taken to deter the onset of any of these possibilities? 3. With polycythemia vera and essential thrombocytosis, is blood letting the primary treatment? If so, can the blood be donated? 4. Since none of my blood factors have ever been out of the normal range to date, no specific result of the JAK2 mutation has raised its ugly head. Is this normal? I'm not typically a worrier. In fact, I do really well with things like this once I know what I am dealing with. Information becomes my sword which allows me to take worry and nip it in the bud.

REPLY

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.

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.)

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.

@chadknudson

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.)

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Thanks. I think I would have been surprised a little if they did. However, I am from that "waste not, want not" generation so I had to ask.

I have ET, and have tested negative for the JAC2. I've been taking Hydrea 500mg for almost 20 years. Still waiting for the day I get the news I may have acute leukemia. My hematologist says taking it every other day is not good enough because that keeps my platelets only at around 520. He wants me at below 500. I tried not taking it, but my platelet count went back up to 800s. For years I have hoped a cure for Essential Thrombocythemia would come along, but still waiting.

@misty45

I have ET, and have tested negative for the JAC2. I've been taking Hydrea 500mg for almost 20 years. Still waiting for the day I get the news I may have acute leukemia. My hematologist says taking it every other day is not good enough because that keeps my platelets only at around 520. He wants me at below 500. I tried not taking it, but my platelet count went back up to 800s. For years I have hoped a cure for Essential Thrombocythemia would come along, but still waiting.

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@misty45, Thank you for replying and telling me your story. Having a positive JAK2 result, I'm still in that waiting stage also to see which way it is going to affect me. Whether it will be polycythemia vera (PV), essential thrombocythemia (ET), or leukemia. Since none have yet reared their ugly head, I am tested every 3 months and am not on any medication for this. I do have a few questions for you if you don't mind answering them: 1) Along with your current medication, do you have to give blood to get rid of the extra platelets or does the medication reduce the amount of platelets your bone marrow is producing without having to give blood? 2) Since you obviously have tried cutting back on the prescribed medication, was that because of side effects? If so, what side effects did it cause for you? 3) Can you tell when your platelets are high (do you have symptoms?) or not? 4) From what you've experienced, found out or been told, does having ET mean that leukemia is the next guaranteed step in this disease or is it possible that will never happen? I'm so glad (dare I say relieved) to hear that you have survived all these years with this disease without it progressing into anything worse and hope that that will continue for many years to come. There was an article I saw from the National Institute of Health (NIH) that tested well over 10,000 people and tracked them for many years. From those 10,000+ people, they found only 15 that had the JAK2 mutation and determined that only 3 of the 15 died as a direct result of their disease well into their 70's or 80's. The remaining 12 died from other causes. I'm in my mid-60's with no other major health issues so that really helped me wrap my head around some of this and encouraged me.

@misty45

I have ET, and have tested negative for the JAC2. I've been taking Hydrea 500mg for almost 20 years. Still waiting for the day I get the news I may have acute leukemia. My hematologist says taking it every other day is not good enough because that keeps my platelets only at around 520. He wants me at below 500. I tried not taking it, but my platelet count went back up to 800s. For years I have hoped a cure for Essential Thrombocythemia would come along, but still waiting.

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I'm happy to share my experience. #1. No, do not need to give blood. The Hydrea is toxic enough to kill the excess platelets. #2. I have experimented over the years to cut back a little from the prescribed dosage simply to minimize the amount of toxicity I'm consuming. My Docs have not liked this kind of fooling around with the dosage. So I've been steady at 6 days a week, no Sundays for about a year. No side effects from the Hydrea after the initial first month twenty years ago. #3. I still have no symptoms of this strange blood disorder called ET, regardless what my count is on any given day. I go every 3 months for a cbc. It puzzles me that at 72, I still feel the same with a count of 480 as I did at age 40 when I was diagnosed with a count of 800. #4. My two Docs (first one retired) have dangled the ultimate fear over me since the diagnosis, but so far my ET has not morphed into leukemia. Having no symptoms and in disbelief, I went to the Scottsdale Mayo Clinic for a second opinion at some point in the 1990s. Same diagnosis. Very disappointing because I was really convinced that nothing was wrong with me. Thanks for sharing the NIH info. I always like to run across updated information on PV,ET, and other blood disorders. You may never progress to anything more advanced. Best wishes.

I have had an ear infection that resists treatment for the last 2 years & 2 surgeries. Is it possible my disease is the underlying problem?

@carlavan

I have had an ear infection that resists treatment for the last 2 years & 2 surgeries. Is it possible my disease is the underlying problem?

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@carlavan, welcome to Connect. I moved your discussion to the Blood Cancers & Disorders group and combined it with a discussion where other members are talking about JAK2 mutations and essential thrombocytosis. While we wait for other members to jump in, would you mind sharing a bit more about yourself? Have you talked with your hematologist or medical provider about the possible connection between your ear infection and essential thrombocytosis?

@JustinMcClanahan

@carlavan, welcome to Connect. I moved your discussion to the Blood Cancers & Disorders group and combined it with a discussion where other members are talking about JAK2 mutations and essential thrombocytosis. While we wait for other members to jump in, would you mind sharing a bit more about yourself? Have you talked with your hematologist or medical provider about the possible connection between your ear infection and essential thrombocytosis?

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Thank you. Just diagnosed 2 weeks ago but my ENT has trie to get rid of the ear infection to no avail. Wondering if it could be related. My hematologist told me to google leukemia & lymphoma society for more info

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