JAK2 Mutation - Effects and Questions

Posted by ettap @ettap, Mar 29, 2018

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.

Interested in more discussions like this? Go to the Blood Cancers & Disorders Support Group.

Colleen Young, Connect Director | @colleenyoung | Feb 20, 2019

In reply to @donnaclabaugh "I have just been diagnosed with Myelodysplastic Syndromes ( MDS-a bone marrow decease) & Myelofibrosis (MF-blood..." + (show)

Welcome to Connect, @donnaclabaugh. I see that you wanted to post a link to Voices of MPN. New members cannot post web links for a few days. We do this to protect the community from spammers, people who join only to post links to sell something, etc.

Clearly the link you wished to share is a helpful and useful link for the community. Please allow me to post it for you. You will be able to post links by the end of next week.

Voices of Myeloproliferative neoplasms https://www.voicesofmpn.com

Donna | @donnaclabaugh | Feb 20, 2019

In reply to @ettap "My hematologist submitted blood at a lab for 5 genetic tests after I suffered my 2nd..." + (show)

@ettap

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.

Jump to this post

I have just been diagnosed with Myelodysplastic Syndromes ( MDS-a bone marrow decease) & Myelofibrosis (MF-blood cancer).
I am doing a lot of research and trying to learn also. Have you checked out Voices of MPN? They will send you several FREE books. They are also holding a LIVE WEBINAR on Wednesday 3/27. Register at 919-256-2479. Hope this information helps.

ABP | @arminbaniaz | Feb 14, 2019

In reply to @kanaazpereira "Hello @apr931, Welcome to Connect. You may notice that I moved your message to combine it..." + (show)

Hello @kanaazpereira ,

The article you shared (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562533/ ) answers alot of my inquiry. Just wondering if there is any follow up article.

Abit of my background, I was diagnosed in Malaysia with CML in 1989 and underwent a Bone Marrow Transplant at the Hammersmith Hospital, London in 1990. I had a relapse in 1993 and has been well since. Recently, I had a drastic weight lost from 73kg to 60kg and did a bone marrow aspiration & Threpine (also tested for Philadephia Chromosome and it was negative) and Jak 2 test. I did Jak 2 test twice and it detected a faint band (on both occassion) which means, i am Jak 2 positive right?

My spleen is normal, doctor detected hepatomegaly during the ct scan.

According to my hematologist, the Bone marrow aspiration and threpine are normal which means, i am MPN negative. I am keen to know what happen to the 8 patients with Jak2 positive and No MPN after diagnosis (in the article).

@apr931 , i am Jak 2 positive with a normal bone marrow result. Have faith it may not or very slowly to progress.

esperanzam | @esperanzam | Jan 26, 2019

In reply to @carlavan "Hi, I'm jumping in because I have ET with Jak2 positive. I am on Hydrea 500mg..." + (show)

@carlavan I am on Hydrea, 2 times a day, 7 days a week. I do have stomach problems but not all the time and I do not think they are related to the Hydrea as it is not all the time and I have IBS (Irritable Bowel Syndrome) and have for more than 20 years, which I think is the cause of my stomach issues. I did experience heartburn when I started taking the hydrea 3 1/2 years ago and the doctor put me on forst, Olmeprazol and then last year changed it to Ranitidine, which is Zantac, twice a day. I only have stomach problems when I eat something which I shouldn't or when I have high levels of stress. I tak a lot of probiotics. The probiotics may help you, whatever the cause of your stomach problems are. I am currently eperiencing problems but am traveling and travel always seems to make it worse. There are more times than not tha my stomach is fine, if I am eating right, even though I am contiously taking the Hydrea, so I have not experienced the Hydrea being the cause of it. Hope you find relief.

esperanzam | @esperanzam | Jan 26, 2019

In reply to @susanellis "@esperanzam thank you so much for this information. I pray you get good results from your..." + (show)

@susanellis@I do know what you mean about connecting with others who have the same thing you do. It is not easily understood. Most know I have Thrombocythemia but since I have had some complications and changes, when they found out I am actually on chemo and it is cancer, they are shocked. I have had very little if any side effects from the Hydrea for 3 1/2 years. I am thankful. Thanks for the best wishes. I do have lung problems and other things but we are trying to figure out what is what and if the ET has changed and treatment needs to changed. Sometimes it is hard to sort it all out, especially for doctors who do not specialize in these conditions. I should have the results from the bone marrow biopsy which I had this past Tuesday in 2- 2 1/2 weeks. Maybe this will provide some answers for my newest problems.

lisadej1 | @lisadej1 | Jan 26, 2019

In reply to @susanellis "@esperanzam thank you so much for this information. I pray you get good results from your..." + (show)

I am + JAK2 and just had a biopsy and they still don't know for certain that I have ET but my blood work is normal except my platlets are high in the 580s. I had a stroke last year and I'm only 49 the main symptom was numbness and tingling in my hands and after the stroke burning sensation in my feet. Nobody was listening to me until I pushed for further testing and was positive. They have started me on hydrea and no bad side effects. Just hope it brings my platlets down so I don't have another stroke.

susanellis | @susanellis | Jan 24, 2019

In reply to @esperanzam "@Susan Ellis I take 2 Hydrea a day every day. Up until recently it kept them..." + (show)

@esperanzam thank you so much for this information. I pray you get good results from your biopsy. It really helps when I connect with real people concerning ET. It is still so new to my family.

esperanzam | @esperanzam | Jan 24, 2019

In reply to @susanellis "@misty45 Thank you so very much for sharing your ET experience. My daughter ( age 39)..." + (show)

@Susan Ellis I take 2 Hydrea a day every day. Up until recently it kept them between 350,000 and 400,000. Recently they have gone up with no changes in dosage. Had a bone marrow biopsy 2 days ago (no results yet) to see it there have been any changes in disease (ET) with JAK-2

ajordan1982 | @ajordan1982 | Jan 23, 2019

Would you mind keeping me posted on what you noticed? I have ms as well and they saying not related to that so wondering if to the blood

joseph0117 | @joseph0117 | Jan 23, 2019

In reply to @ajordan1982 "I have a question and this might already have been discussed but has anyone ever had..." + (show)

I do have those symptoms, ET. Not sure if its because of some medication im taking for my thyroid or if its tension. Hopefully will know soon since ill stop medication for few days and observe

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