Different mutation?

[lizzziep]

I was just checking via my NHS app what had been sent to my GP, when I noticed on a letter from Guys this - it listed my mutations -

CGN - normal karotype,

NGS - CALR, L2AF1, ASXL2. (High risk markers)

Previously I thought I was ASXL1, it could be a typo I suppose but does anyone know the difference etween 1 and 2? I’ll ask at my next appointment too.

Also on the letter the doctor said I was currently well and stable but if my anaemia got worse to have Momelitinib, or possibly the KEROS trial.

I’m pleased to be stable and fingers crossed I stay that way.

Thank you for any information.

[hunter5582]

Your best answer will come from a MPN specialist who can give case specific feedback. Here is a bit of information that might be helpful in the meantime.

While ASXL1 acts as a haploinsufficient tumor suppressor, mice models have shown that ASXL2 gene plays an essential role in normal hematopoiesis and its deletion in hematopoietic stem cell leads to myeloid malignancies. Compared with the incidence of ASXL1 mutations, ASXL2 mutations are less frequent in myeloid malignancies. onlinelibrary.wiley.com/doi....

The short version is that the ASXL family of genes play a role in hematopoiesis and in how MPNs present. There is more information on the function of these gene mutations if you wish to pursue it.

Please let us know how you get on and what you learn. Perhaps you can become the forum expert on ASXL mutations and we will all benefit from your knowledge.