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I was diagnosed 3 years ago with secondary (non cancerous) PV. I do not have the JAK2 mutation. My blood counts have been all over the map which concerns me. I have had phlebotomy on a three month schedule for the time period. I am always exhausted, short of breath and weak. Really frustrating from someone who used to walk 6 miles a day without complaint.
I am concerned with how this is going to progress. My mom had Myelofibrosis and her mom died of acute myelogenous leukemia. Mom's doctor suggested that it would possibly run in families, but my doctor disagrees.
My question is can I still develop JAK2 mutation? Trying to figure out where to go from here.
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I don't live in a big city, but when I got my PV diagnosis I got a video appt at the Mayo Clinic with a specialist in MPNs. When I expressed interest in getting the whole story on my health (just what ARE the risks in my case) he did additional genetic testing to see if I had any signs of a predisposition to my condition further developing into MF or leukemia. So at least in the view of some doctors you CAN know a little better where you stand in the scheme of things. I DO have the JAK2 mutation, but I don't think that is pertinent in this analysis of what other predispositions exist in my system.
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Hi @casevin7 JAK2 is an acquired mutation so it is possible to develop it in the future. But it’s not something to dwell on. It would drive us all crazy trying to predict what mutation could happen in any of our millions of cells.
While the JAK2 mutation isn’t passed down generationally it possibly may run in families. The suggestion from some research is that there “could” be a link through generations of being potentially genitally susceptible or there could be a vulnerability in a genetic pattern that might run in families. Mostly they’re just random: a stray gamma ray passing through the earth, a DNA strand that didn’t split perfectly, who knows… but my hematolgist said it perfectly “S*** happens” and there’s just no point dwelling on the hows and whys.
https://www.healthline.com/health/myelofibrosis/what-is-primary-myelofibrosis#symptoms
With your familial history of blood cancers it’s pretty reasonable to want to know what could potentially happen down the road. Would you be open to getting a second opinion?
Are you following any treatment plan besides the occasionally phlebotomy? Any aspirin therapy or Hydroxyurea?