JAK2 and DNA

Hello @marg3. From my understanding it’s almost impossible to know when one of these genetic mutations take place in the JAK2 gene. The DNA test can show what area on the JAK2 gene is impacted but not when unless the DNA is tested frequently. That particular gene is susceptible to mutation and there are over 50 mutations associated with the JAK2 gene.

It only takes one mutated cell to start the ball rolling. The basic blueprint of the normal cell is disrupted and that leads to a proliferation of these damaged cells. These are called somatic mutations and are not inherited. They occur randomly and not passed on to children.
It’s not to say there aren’t outside factors such as radiation, chemical exposures, pollution, etc., that can have an impact to cause these mutations. But from what all my oncologists told me, I would drive myself crazy trying to pinpoint the exact moment of my mutation for Acute Myeloid Leukemia. It was a random event…somewhere along the line a DNA strand didn’t divide correctly, a stray gamma ray shot through the earth and caught me at a bad time. Whatever happened, it allowed the defective cell to elude my immune system allowing the proliferation of cancer cells.

I’d love to know too, what caused the 3 simultaneous mutations! In my case it would have happened about 120 days before my diagnosis. But there was nothing I did which caused this to happen and nothing I could do to change it once it occurred.
This information from Very Well Health is helpful in understanding the JAK2 Gene and possible mutations:
https://www.verywellhealth.com/jak2-mutation-5217909
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Another interesting article for you:
https://powerfulpatients.org/2022/11/10/what-is-a-jak2-mutation/#:~:text=Mutations%20in%20the%20gene%20controlling%20JAK2%20protein%20production,marrow%2C%20inhibiting%20the%20production%20of%20new%20blood%20cells

You wondered about high stress impacting your diagnosis. Long term stress can weaken the immune system leaving a person prone to cancer and other diseases. Below is a link to a great informational article from MD Anderson on the subject.

There are also several discussions in our forum with other members who have ET and the JAK2 genetic mutation:
https://connect.mayoclinic.org/discussion/jak2-et-and-mpn-symptomscause/

Do you have a specific JAK2 mutation?

@loribmt thank you so much for the detail response. And just so informational for me -- so again thank you so much. I will check out all the links you provided too.

I thought I've read in the past a couple of reports where "they" marked when the mutation "might have occurred", although for me more of a curiosity than anything else -and your information explains a lot for me too. And in any case, I figure my mutation comes from working for years in the petrochemical world and just whatever my gene make-up is-- it decided to mutate.

Thankfully I am asymptomatic --still working a day job -- taking my daily dose of baby aspirin, hydroxyurea, and quarterly blood tests.