Worry about ASXL1 MUTATION: Hello everyone, I have... - Fight MPN

Fight MPN

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Worry about ASXL1 MUTATION

merlisa profile image
4 Replies

Hello everyone, I have been suffering from MPN for over 10 years, although I am very young. JAK2v617F. Due to misdiagnosis in the beginning few years, that cause my spleen volume was huge. When the diagnosis was made, the doctors all exclaimed that I had already faced severe anemia, but I'm not. Now I'm taking Rux.

But what I am worried about is the failure of molecular genetics. I have ASXL1 mutation, and am currently moving towards MDS. Bone marrow biopsy has shown that there are sick megakaryocyte, although my fibrosis has been reversed.

Do you have any strategies for this? I am afraid of transplantation because there is no donor in my family and I still need to support my parents.

🙏Thanks!

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merlisa
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4 Replies
EPguy profile image
EPguy

If you want to consider SCT, a related donor is not required:

"Approximately 70% of patients who need a transplant do not have a matched donor in their family"

mdanderson.org/patients-fam...

But this needs a qualified institution like MDAnderson here to search for suitable donors.

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Recent advance have improved outcomes and unmatched donors are even possible with the latest methods.

"Recent advances in GVHD prophylaxis and donor selection have reignited interest in MMUD (mismatched unrelated) as a feasible and suitable option for patients without a matched donor "

ashpublications.org/hematol...

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merlisa profile image
merlisa in reply toEPguy

Thanks for your information. I will delve deeper into it. And plan to apply MMUD.

Jull2002 profile image
Jull2002

From my limited understanding, in addition to genetic mutations, age is a big factor in the overall outcome of the HCTs. If you're young, with the recent advances in donor matching technology, it is highly plausible to qualify even with a half-matched donor. Have you discussed your transplant options with your team?

ETMF profile image
ETMF

It is one year later. What is your status currently?

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