First time to post my profile and a question. I was diagnosed during a separate procedure in November 2019 and was on W&W until May 2021 when a scan showed a lump developing on my spine along with worsening anaemia. Consultant decided time was right to start treatment. Obinutuzumab initially which generated a dramatic and severe reaction, then ramped on Venetoclax with Rituximab introduced after a month. All indicators are looking good although I am certainly tired and still anaemic, but AWC and ALC are normal as are Netrophils (thanks to regular Filgristam injections). So my question...
Looking back on my initial diagnosis I can see the comment: Cytogenetics del6q, del18p, tri12 and no tp53.
What does this all mean? I think I should be pleased that there is no tp53 but other than that?
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Dawson21
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I’ll give it a shot, keeping in mind my interpretation is from a layperson who doesn’t totally understand these things that well.
The common chromosomal abnormalities a FISH test looks for in Cll is 13q, trisomy, 11 q and 17p. The prognosis from good to bad is in that order, with trisomy carrying an intermediate prognosis. Trisomy with mutated IGHV has a good overall prognosis.
Most FISH tests done on Cll, at least I thought, would not even look for abnormalities at the 6th and 18th level because they would be rare with Cll. I am curious. If you know, was there some reason your FISH test included these chromosomes? Maybe all FISH tests do and it’s something I just don’t fully understand.
Google says 6 q Cll is uncommon and associated with an intermediate prognosis. 18 p Cll is also rare and if I understand what I read correctly, it can correlate with 17p Cll and ibrutinib resistance.
Your TP 53 gene is intact, so I would guess that makes the 18p less relevant. Genetic abnormalities at multiple chromosomes can also be indicative of less stable disease.
The newer drugs like the ones you are on do well with all sorts of Cll, so the prognostic implications of FISH testing have lessened somewhat. And its also unclear the size of any deletions you might have. The findings at 6q and 18p could be incidental and not add up to much.
I hope you will ask your doctor what this means and report back. I am curious as to why they would even think to test for 6q and 18 p. You will find some discussion of the 6th and 18th chromosomes in connection with cll in the literature, but I think it fair to say it has not been studied much and that the implications, good or bad, are not well known.
It might be that lots of us have other chromosomal abnormalities we just don’t even know we have because FISH did not look for it.
cajunjeff has responded with a helpful and accurate answer. I was searching in our archives for something like his answer, but most of our past postings get really deep in the weeds with details about the most common FISH tests ( 13q, Tri 12, 11q and 17p).
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But to boil it down, most say that not having a 17p or odd Tp53 results is good, and then using old school chemo might work OK.
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Everything else is a mixed bag of predictors on how long you might be in watch & wait before needing treatment.
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In your case, since you are in treatment now with the modern non Chemo targeted treatments, those old FISH results don't add any valuable information now.
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Keeping an eye on that lump on your spine and monitoring your anemia, ANC/Neut# and other physical symptoms is probably the best thing your doctor can do for you and your path forward.
Three genetic abnormalities puts you in the complex karyotype bracket which, statistically, does have a poorer prognosis probably due to genomic instability but that must to some extent depend on which abnormalities you have.
Your two less commonly reported genetic deletions, del6q, del18p, do not appear to have massive prognostic value but all the reports that I have found are pre the targeted therapy era and so have little value.
Thanks for the very informative and helpful responses. Clearly some questions for my consultant. These results came up from an analysis of prostate chippings taken during a TURP procedure. This might explain why they looked where they did?
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