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.

@carlavan

Hi, I'm jumping in because I have ET with Jak2 positive. I am on Hydrea 500mg a day, 4days a week and a aspirin daily. I don't think I am having side effects but I also have COPD & new stomach issuses , which the stomach upset could be related to the Hydrea but there has been no confirmation.

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@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.

@kanaazpereira

Hello @apr931,

Welcome to Connect. You may notice that I moved your message to combine it with this existing discussion on JAK2 Mutation. I did this as I thought it would be beneficial for you to be introduced to other members who have discussed JAK2 Mutation.
If you click on VIEW & REPLY in your email notification, you will see the whole discussion and can join in, meet, and participate with other members talking about their or their loved ones' experiences.

You pose a very interesting question, and I hope that members participating in this discussion will return with some more information for you. As you mentioned, after doing a bit of research online here’s what I also found – people can carry the mutation and not develop MPNs (myeloproliferative neoplasm), while others who do not have the mutation may still suffer from an MPN. There seems to be considerable uncertainty about prognosis in JAK2 positive individuals without overt signs of myeloproliferative disease. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562533/

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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.

@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.

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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.

@donnaclabaugh

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.

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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

Liked by patrickbernath

Hello, first I’m sorry if they are mistakes in the text since my first language is french.
I was diagnosed with a high platelets number aroun 2004. At that time, the doctor tought that it could be inflammatory problems or pills leading to this. My platelets went up very slowly from 400 000 to more then a million. Later, it went from hyper platelets to ET. Around 700 000, my hematologist puted me on aspirin. Around 2009 he took a piece of bone narrow for a Jak 2 test wich came back negative from the lab. Years later, the simple blood test came and I tested positive to the mutation on that blood test. After some reserch, I found out that around 2002, I started having skin itching like hell when coming out from a bath or shower, or doind sports while having transpiration. A study came years later saying that patients with ET or myelo decease were about 30% to have this problem.
2 years ago around Christmas I starded having headeachs all the time, so I started to panic. I asked my family md to have a blood test. I went from 750 000 to more then a million platelets count in 2 months. Had lots of tests done in neuro but all was good. Started pills for those headeachs and started Hydrea 500 once every 3 days. Then it went up and up and up like 112-112 then 121212 and 22222 so 2 per day everyday and 232 and now 3 a day to have platelets between 340 000 and 400 000, wish is what my hematologist is aming for.
Not long adter starting Hydrea, my skin rash coming from water or pursparation came to a stop.
It was really a nightmare all those years.
I am to looking the net to see if there a new research, but not much is going on.
I am 51 so found out around 2004 and starded Hydrea in 2016. It went up very very slowly.
Side effects of Hydrea on me is more or less fatigue. I go to the gym, sane there, a normal training take the energy as if I did a big one. But it is better to keep the shape.
If you have questions, don’t hesitate, I am new here from today. Hopes this helps.

@colleenyoung

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

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Thank you very much, merci.

I have had leukemia for 3 yrs before being diagnosed with Jak 2

Worried about having 2 diseases

Cml under control now have Jak2 2 mutation doctor put me on jakifi and on tasigna for Leukemia

Hi @mcullen123 you may have noticed I moved your post to this existing discussion on Jak2 mutation so that you connect with others who have this mutation. Simply click VIEW & REPLY in your email notification to get to your post.

That must feel great to have the CML under control but frustrating that you now have Jak2. How long ago were you put on medication for this? When were you diagnosed?

@patrickbernath

Hello, first I’m sorry if they are mistakes in the text since my first language is french.
I was diagnosed with a high platelets number aroun 2004. At that time, the doctor tought that it could be inflammatory problems or pills leading to this. My platelets went up very slowly from 400 000 to more then a million. Later, it went from hyper platelets to ET. Around 700 000, my hematologist puted me on aspirin. Around 2009 he took a piece of bone narrow for a Jak 2 test wich came back negative from the lab. Years later, the simple blood test came and I tested positive to the mutation on that blood test. After some reserch, I found out that around 2002, I started having skin itching like hell when coming out from a bath or shower, or doind sports while having transpiration. A study came years later saying that patients with ET or myelo decease were about 30% to have this problem.
2 years ago around Christmas I starded having headeachs all the time, so I started to panic. I asked my family md to have a blood test. I went from 750 000 to more then a million platelets count in 2 months. Had lots of tests done in neuro but all was good. Started pills for those headeachs and started Hydrea 500 once every 3 days. Then it went up and up and up like 112-112 then 121212 and 22222 so 2 per day everyday and 232 and now 3 a day to have platelets between 340 000 and 400 000, wish is what my hematologist is aming for.
Not long adter starting Hydrea, my skin rash coming from water or pursparation came to a stop.
It was really a nightmare all those years.
I am to looking the net to see if there a new research, but not much is going on.
I am 51 so found out around 2004 and starded Hydrea in 2016. It went up very very slowly.
Side effects of Hydrea on me is more or less fatigue. I go to the gym, sane there, a normal training take the energy as if I did a big one. But it is better to keep the shape.
If you have questions, don’t hesitate, I am new here from today. Hopes this helps.

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Thank you for the information. I’ll pass along to my son, who is 46.

Liked by patrickbernath

My Naturopathic Physician suggested I see a Oncologist or Hemotologist in 2013 because my Platelets were increasing to 1.5 million. I started to see a local Onocologist and was told I have a JAK2 mutation and Polycythemia Vera. I started taking Anagrelide (stopped working), Hydroxyurea (bad side effects) and then Jackafi in August 2018. I was seeing my local oncologist about once a month with blood draws. In February 2019 when my white blood cells were increasing and platelets dropping I was referred to Seattle Cancer Care Alliance (SCCA). Dr Colin Godwin (SCCA:) told me I was in the early stages of Acute Leukemia. He said he would contact the Stem Cell Transplant Team to start looking for a match for me to get a stem cell transplant. My local oncologist put me back on Hydroxyurea to control the white blood cells. I met with a Transplant Team Doctor (SCCA) on Friday, March 15th and found that my brother is a 50% match and they will start looking for a 100% match for me. I will spend approximately 100 days in Seattle to go through the tests, chemotherapy and Stem Cell Transplant. I am 67 and since I want to live, I have elected to have the Stem Cell Transplant done. It is not always an easy recovery period but I hope to remain strong and survive.

Liked by patrickbernath

I have read that there are certain foods that can naturally affect platelets–either raise or lower them.. Several articles talk about the lowering effect of cranberry juice and some fruits such as strawberries or other berries. Have any of you seen similar studies posted or had discussions with your doctors about natural options along with baby aspirin and/or medication? Thanks so much!

@damari

I have read that there are certain foods that can naturally affect platelets–either raise or lower them.. Several articles talk about the lowering effect of cranberry juice and some fruits such as strawberries or other berries. Have any of you seen similar studies posted or had discussions with your doctors about natural options along with baby aspirin and/or medication? Thanks so much!

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No I haven't heard and my doctor hasn't mentioned but thank you I'm definitely going to look at this. Can you share anything you have?

@misty45

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.

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My son is almost 47 and has been dealing with high platelet count 750,000 for about five years. Hematologist put him on 81mg aspirin and monitors every three months CBC. No jak2 mutatation. I wonder if he should pursue with Dr. the hydra meds? No mention of that yet.

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