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.

I have the JAK2 and SRSF2 mutations. I was diagnosed with MDS/MPN overlap with Thrombocytosis. Extremely rare. The diagnosis was made at Sloan following a molecular panel that looked at 400 known genes. My bone marrow aspiration and pathology report were somewhat confusing as it indicated possible myelofibrosis, CLL and HL. The Sloan MPN group said that's impossible so let's wait until the molecular panel results come in. The molecular panel resolves all the issues raised in the bone marrow procedures.

So I suggest you have a molecular panel done.

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@damari

please give me info how to reconnect on Mayo connect Is there a phone number to call?

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Hi @damari
If you have any questions about Mayo Clinic Connect, please contact me using this form https://connect.mayoclinic.org/contact-a-community-moderator/

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@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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Hi, I have Essential Thrombocythemia with JAK 2 mutation and perhaps these folks looking for answers would have more luck if they were steered toward a site that dealt with JAK2 mutation all day long. mpn research foundation is the research foundation for myelproliferative neoplasms (MPN) and they have a community site as well for us with these cancers to connect. the site won't let me add a link because I am a new member so just google it. We have members from all all over the world dealing with JAK2 mutations who have decades of experience and can answer questions. The three main MPN's are Essential Thrombocythemia (ET), polycythemia vera (PV) and myelfibriosis (MF). Thank you for all that you do!

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Hi everyone, hope all is well. My name is Claire and I also have essential thrombocythemia with jak2 and would like to have the link to information for this. If anyone out there can help me with this I greatly appreciate it
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@claire39

Hi everyone, hope all is well. My name is Claire and I also have essential thrombocythemia with jak2 and would like to have the link to information for this. If anyone out there can help me with this I greatly appreciate it
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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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@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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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..

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@claire39

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..

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The molecular panel is crucial because that panel looks at 400 genes to identify which genes have mutated.

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@mjpm2406

The molecular panel is crucial because that panel looks at 400 genes to identify which genes have mutated.

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My son must have had the molecular panel because he does NOT have Jak2, but does have high platelet count (670,000).

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A blood smear is normally used by a Hematologist to check for several suspected mutations. The JAK2 is the most common gene mutation that causes ET but there are other mutations that cause various MPN disorders. The molecular panel looks at 400 genes and will identify any blood gene mutation. According to the Sloan Cancer Center Leukemia Group the tests that they consider protocol include the bone marrow aspiration and biopsy and the molecular panel. In fact, that’s WHO protocol. Wishing you good luck. Let’s hope whatever you son has it’s treatable.

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Thank you.

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Hello,
About a year ago I was diagnosed with antiphospholipid antibody syndrome and JAK 2 Mutation following the discovery of a clot in my head. I am currently on coumadin and my other bloodwork has been normal. I know very little about JAK 2, however, I am aware that it can develop into cancer or other blood problems. The way it was explained to me by hematologist is that it may happen, but it's not a definite. Is there anything that I can do to be proactive other than having my blood drawn regularly?
Thanks so much!

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@kimmermat

Hello,
About a year ago I was diagnosed with antiphospholipid antibody syndrome and JAK 2 Mutation following the discovery of a clot in my head. I am currently on coumadin and my other bloodwork has been normal. I know very little about JAK 2, however, I am aware that it can develop into cancer or other blood problems. The way it was explained to me by hematologist is that it may happen, but it's not a definite. Is there anything that I can do to be proactive other than having my blood drawn regularly?
Thanks so much!

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Hello @kimmermat, welcome to Connect. You may notice I moved your discussion and combined it with an existing discussion titled, "JAK2 mutation effects and questions." I did this so you could read through the many posts by members on this exact topic as well as so those members could see your post and have a chance to introduce themselves to you and share their insights.

@kimmermat, while we wait for others to join in again, were blood draws the only thing discussed with your hematologist?

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@JustinMcClanahan

Hello @kimmermat, welcome to Connect. You may notice I moved your discussion and combined it with an existing discussion titled, "JAK2 mutation effects and questions." I did this so you could read through the many posts by members on this exact topic as well as so those members could see your post and have a chance to introduce themselves to you and share their insights.

@kimmermat, while we wait for others to join in again, were blood draws the only thing discussed with your hematologist?

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Yes. I meet annually with my hematologist. My primary care physician monitors my clotting factors. I also see a neurologist who is monitoring the blood clot.

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My husband has the JAK2 but was diagnosed with both ITP and MDS all at the same time.

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@motherofdragonsdk

My husband has the JAK2 but was diagnosed with both ITP and MDS all at the same time.

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Hi, what is ITP?

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