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JAK2 Mutation - Effects and Questions
Blood Cancers & Disorders | Last Active: Dec 18, 2023 | Replies (273)Comment receiving replies
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/
Replies to "Hello @apr931, Welcome to Connect. You may notice that I moved your message to combine it..."
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.
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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Thanks for the article. It was useful. It seems to me when discussions get moved, they are just buried in old discussions, so I'm not sure this will not get any replies other than that of the moderator. But, I appreciate the article you did send. It is very useful, and along with some other internet research, indicates that it is possible to test positive for the mutation without having overt disease. Given my consistently high WBC counts, I'm going to *guess* that the mutation has already had some effect, but will have to wait for a bone marrow biopsy to be certain. And, my allele burden is significantly above the cut off typically given for "mutation in healthy individuals" ...although my testing was done in purified granulocytes, while the articles report testing in whole blood, so I'm not certain if the numbers can be meaningfully compared. Ugh! I have just enough information to be worry over the holidays, without enough information to have any sort of a plan.