Not great news :-( ASXL1

[Miriammusic]

Hello all. Looking for some insight or maybe just a glimmer of light today. So, I was diagnosed ET at 47, progressed to PV at 53 or so. Did Peg, then Besremi for 5 years, but could not tolerate interferon. On Jakafi now for almost a year. Platelets down from 1.1 mill to just over 400,000. But other numbers, wbc, LDH, blasts not looking great. Did a BMB 3 weeks ago. Definitely has progressed to myelofibrosis. But unfortunately, the myeloid panel came back with another mutation ASXL1. This one associated with a poorer prognosis, leads to leukemia etc. Last BMB 2 years ago and showed no signs of this, but as we know this can happen and JAk2 is a driver mutation. (Only I don't like where it is driving me! 😬) At 61, hemo/onco does not feel a SCT is in the cards for me this year. Obviously, we know there is morbidity and risks with SCT. Definitely says I will need one in a few years. Two? Three? Who knows? Have to watch the blasts. Will begin meeting with the Transplant team and testing anyway, just to get on their radar. Does anyone else have this mutation and/or thoughts? Appreciate you all. xx

[Cja1956]

So sorry to hear about your progression. I’ve been dealing with ETMF since 2019. I’m on my way to get a transplant in May. I think you should get another opinion regarding a transplant. Did he say what level MF you have? What level fibrosis do you have?

[Miriammusic in reply to Cja1956]

Stage 3. I am glad you are on your way to recovery! Thanks for the advice. 2nd opinions are always good.

[Cja1956 in reply to Miriammusic]

So, if you’re stage 3, I would not waste any time seeking out the opinion of an MPN specialist and a transplant doctor. Actually, I’m very surprised that your doctor said you were not a candidate. The younger you are the better.

[hunter5582]

I do not have ASXL1 but do have the NF1 mutation. It is another of the non-driver mutations that increases risk of progression to AML. So far so good on not progressing. Thankfully, Besremi is working for me.

Wishing you well on your journey.

[EPguy]

I agree with Cja1956, you have a good fit to discuss SCT. And your Dr says you definitely require one soon. In some older posts this has been discussed. Current best practice by some specialists for the best prognosis is to do the SCT as soon as it becomes indicated rather that wait for more potential progression where outcome could be impacted. In this thinking there is no advantage, and there may be added risk, by waiting for what you now know is going to be required.

Has your Dr offered a reason to wait? Are there some new therapies Dr wants to try?

[Miriammusic in reply to EPguy]

Thank you both. Of course, he wants me to remain on Jakafi, but I think the main reason for the wait on the SCT was that he said my blasts were low. He seemed more focused on that than the fibrosis. I will be making an appointment with the SCT team here in Miami and see what they say.