NGS test

[rcusher]

My doctor at my visit today mentioned that she might have me have an NGS test. Has anyone here had one and what does this test reveal.

Jack

[cajunjeff]

Hello Jack. Those of us with cll can have all sorts of genetic mutations that drive our cll, predict what drugs we might be resistant to and inform our treatment choices.

I think the NGS testing you are talking about is a test called “next generation sequencing” that can look for known mutations with cll. That information may help inform treatment decisions as your doctors know more about your type of cll.

[rcusher in reply to cajunjeff]

Yes that's what it's called. I am enrolled in the Loxo-BTK-20020 trial where I was randomized to the Idelalisib + Rituximab Arm but after 8 months had to be taken off due to severe complications that were caused by the Idelalisib. It has taken me 6 months to recover from the complications enough so that I am being transferred over to arm A which is Pirtobrutinib.

[Skyshark]

FISH tests look for missing or additional "arms" on chromosomes. NGS looks at specific bits of those chromosomes and in some places that FISH doesn't test.

FISH 11q > NGS ATM

FISH 17p > NGS TP53

SF3B1 is on 2q, NOTCH1 is on 9q, XPO1 on 2p.

Also for some proteins like RPS15 that are in cytoplasm.

A third test is for somatic mutation of immunoglobulin heavy variable chain (IgHV or sometimes IgVH).

At present the key genetic markers are IgHV (mutated/unmutated), 17p(present/deleted) and TP53(unmutated/mutated).

The three tests IgHV, FISH and NGS are now common before treatment of CLL.