I have been reading the posts here for a couple months, but have only posted a couple times.
I'm hoping someone here might be able to shed some light on the cytogenetics from my last bone marrow biopsy.
Cytogenetics/FISH: -Positive FISH study for BCR/ABL1 fusion
-Complex abnormal male karyotype:
So what I believe this means is that they looked at 23 cells and found 4 genetically distinct populations:
8 cells had two mutations:
inv(3)q21q26.2) (I believe this has something to do with an enzyme called EVI1)
t(9;22)(q34;q11.2) (This is the Philadelphia chromosome)
6 cells had del(7)(q22q34)
5 cells had inv(7)(q22q36)
and 2 of them were normal health cells (yay, I still have some normal cells!)
1. Two of these populations are reported starting with 46,XY and the other two with 46,sl - any idea what sl means?
2. I would like to know more about the two mutant populations that do not have the Philadelphia chromosome. It is not clear to me that there is any reason to expect them to respond to tasigna since it inhibits the mutant tyrosine kinase coded for by the Philadelphia chromosome. I did some searching for them on the web and didn't find a whole lot although I believe one of them is associated with myelodysplastic syndrome (MDS), sometimes called pre-leukemia.
I would appreciate any light you could shed on this.