trisomy 21

[johnliston]

( yes that's 21 not 12) Has anyone ever seen anything on the gain of trisomy 21 in CLL. Seems i've just picked it up. Never heard of this before.

john

[SofiaDeo]

Apparently this is something seen in hematological malignancies, in various cell lines. I'm impressed with a doc doing an expanded FISH to look for atypical mutations in a CLL patient. I am guessing a trisomy in this area is not one of the "better" markers, and may indicate increased potential for more aggressive disease. Similar to how other genetic aberrations in CLL are considered "unfavorable."

nature.com/articles/s41375-...

nature.com/articles/s41375-...

ncbi.nlm.nih.gov/pmc/articl...

sciencedirect.com/science/a...

Especially if one has a large number of mutations, there is data indicating the more genetic abnormalities, the harder to treat/more aggressive a clone tends to be.

ashpublications.org/blood/a...

The data says it's rare (around 2%) in CLL patients, but if one is only being tested for a standard CLL panel of 4-5 markers, the actual percentage may be higher. This mutation seems to be one that favors tumor growth, so perhaps the way one can get it as an adult, is a similar evolutionary mutation pressure like how one can gain a del17p or TP53 mutation as time/number of treatments, increase.

[johnliston in reply to SofiaDeo]

Hi Sofia, thanks for your reply. This showed up in my latest FISH report between my first and second treatment, but it's hard to know if it was better at surviving my first treatment or just there in the first place and never checked for. Anyway, as far as I can tell it's my only karyotype besides a very small % of trisomy 8 so I'm not too worried about it, just curious.

john

[SofiaDeo in reply to johnliston]

Your first FISH would show the markers being tested for. If deletions at gene 21 was tested, the report would say so, I believe.