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JAK2 Mutation

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Ulcerative Colitis
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Posted 4/29/2021 9:49 PM (GMT 0)
Hi,
Anyone here with JAK 2 mutation?
DD Tested positive for JAK2 Mutation.
Her WBC was always slightly / more elevated whenever checked- which leads to Hematologist and the blood work.
Next is bone marrow test to identify Essential Thrombocythemia or Myelofibrosis.

I searched here and couldn't find a post specific to this...
Any inputs welcome..

Thank you!
Posted 4/30/2021 1:54 AM (GMT 0)
They would usually just monitor her, via blood tests, every 6 months or so. That gets done for us anyway lol.

Hopefully nothing to be concerned about. Probably wise to repeat the test as there can be false positives.

More a concern for older people.

take care
Posted 4/30/2021 2:47 AM (GMT 0)
Thank you Ambling!!
I asked about the accuracy and doctor said false negative is possible, as she is positive he is not doubting it.
He said she would be his youngest patient if bone marrow shows positive.
Posted 4/30/2021 10:20 AM (GMT 0)
Hi Bloom93, I'm just curious to know what the significance is regarding UC patients as I'm not familiar with JAK2 mutations. Is it risk of blood clot that you're concerned about?

I just came across these responses from Drs regarding Jak2 positive results in healthy patients which you might find of interest:

https://www.ashclinicalnews.org/mds-mpn/significance-jak2-positive-test-results-healthy-patient/#:~:text=a%20jak2%20mutation%20confers%20a,atypical%20mds%20in%20the%20future.

Post Edited (UCyousee) : 4/30/2021 4:23:56 AM (GMT-6)

Posted 4/30/2021 10:38 AM (GMT 0)
Sorry I guess you've already answered my question in a way by stating what they're testing for. I imagine as a parent it's the possible risk of leukaemia that worries you.

Sorry I don't have the experience to put you at your ease. I have my fingers crossed that you won't need to worry too much about this gene mutation.
Posted 5/1/2021 1:27 AM (GMT 0)
UCyousee - Thank you for sharing the link!! Feels better after reading it!!
I am wondering if there is any connection between UC and JAK2 mutation ...

Thank you for the best wishes....
Posted 5/1/2021 9:45 AM (GMT 0)
The last paragraph of this article suggests that certain mutations could mean that drugs targeting JAK2 might be useful. Hopefully the day they can genetically test us and determine which drugs would work best for us in coming because one of the hardest things while in a flare up is the trial and error element of trying to get into remission.

"This study in particular also provides evidence that drugs targeting JAK2 may provide some benefit for those patients suffering from IBD who carry mutations that upregulate the JAK2 pathway, though such precision-based approaches would need to be validated in clinical studies."

https://www.sciencedaily.com/releases/2020/04/200409142816.htm
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