While organizing my CLL paperwork this weekend, I noticed a page 3 on my FISH test that was missing from my other copies. I could use help deciphering it.
I know I have Trisomy 12. But what does this mean, next to the Abnormal/Trisomy 12 (50%): 12p11.1-q11. D12Z3.
I’ve read other posts here with “p” and “q” but didn’t know it was also in my lab results.
Besides Trisomy 12, I am mutated. Diagnosed 2 years ago, watch and wait, and see my CLL specialist every 3-4 mos. (She did not do this initial FISH test and I have sent it to her as well.)
Many thanks to this community, from which I’ve learned so much and get so much support from.
NW
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NaturalWaze
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I think the first column is what's being tested for, the second is the FISH probe identifier used in the test, the third is your result and the fourth the number of cells sampled. So 50% of your sample showed trisomy 12. However I'm not medically trained and FISH testing is esoteric medical jargon at the best of times. Best ask your specialist.
If you had to treat today, you are one of the few in the US that might have a tough call to make.
Mutated trisomy 12 folks do really, really well on FCR as a group. Ibrutinb works great on that group too, with less side effects than FCR. But FCR is a limited time treatment that is potentially curative for those with markers like yours.
I do think in the near future some ibrutinib/venetoclax combo will make chemo completely obsolete.
It’s a great time to be in watch and wait while they figure out the best new drug combo. By the time you treat, a lot of questions on the best combination may have been answered.
Jeff, I believe that you have mentioned that mutated Trisomy 12 patients do well on FCR previously, but I'm not aware of any papers showing Trisomy 12 having an advantage over 13q del or even normal karyotype per this paper:
It's the results of this paper that are behind the claim that about 30% of those with CLL can expect very long remissions on FCR (or about 60% for those with hypermutated IGHV and no 17p del/ TP53 mutation).
What did I miss?
Those of us unable to access first line non-chemo treatment (a sizeable proportion of this community's membership), need all the hope we can get!
Neil, I wrote that as a group, mutated trisomy 12 patients do very well on FCR.
Here is what Dr Sharman wrote:
“The German group has updated their analysis of the FC vs FCR study with a focus on cytogenetic risk groups with best outcomes. They validate the role of IgHV status with incredible rates of long term disease control in patients with IgHV mutated CLL particularly those lacking 17P. For those patients with trisomy 12 not a single patient experienced progression and the del 13Q folks did extremely well too.”
Later he added:
“ I talked with Stilgenbauer recently and he is still reticent to use the word CURE, but I think these subgroups (IgVH mutated WITH either Trisomy 12, or Del 13Q) have high likelihood of super long term disease control if not cure.”
I think what I wrote is consistent with what he did. I did not write trisomy had an advantage over 13 q, but that’s what Dr Sharman seems to say.
In any event, I think my suggestion to Natural Waze that someone with trisomy 12 mutated IGHV Cll might be in a group to consider FCR as a potentially curative treatment is a fair statement, consistent with what Dr Sharman wrote. I hope that helps. Jeff
The German Group managed the CLL8 trial of which the paper I cited is the update to which Dr Jeff Sharman was referring. You'll note that Dr Stilgenbauer is one of the authors. My concern with your reply were your words "you are one of the few in the US that might have a tough call to make". 30% of the CLL population (per Dr Sharman mutated with normal karyotype, 13q del or Trisomy 12 and of course no 17p del or TP53 mutated) is not a few - it's a significant proportion of the CLL population!
I think it's the varying influence of these other factors that could be behind any variations. Remember that clinical papers reporting on long term experiences of patients with different prognostic factors (which can and do change over time), come from around the world and generally tend to involve a small number of cases tracked long term.
Interesting, Neil. So according to this, and in 2012, trisomy 12 is low risk, WITH normal cytogenics. What is normal cytogenetics with CLL? (Mutated/unmutated?). I’ve been to several doctors and no one has called this low risk, unfortunately.
Thanks for all the info. It takes awhile to really absorb all of this.
I reviewed the article and a little confused with just trying to get a handle on what fish test has a better prognosis. They are now putting a new twist or a better understanding on what the results are. It went into Trisomy 12 but failed to go into fish normal with the new way of classifying fish test. 50% unmutated trisomy is now considered better then mutated as I understand the report. Would that be true with fish normal I wonder.
Normal CLL cytogenetics/karyotype just means that your CLL doesn't have any of the prognostic markers checked for in FISH testing. IgHV (hyper)mutation status testing is a very important, largely independent prognostic measure, though the likelihood of being IgHV mutated does vary with the different FISH markers. IgHV testing has become more important in the USA, where there's a choice of chemo or non chemo treatment not generally available elsewhere. If you are unmutated IgHV, you are unlikely to have a long remission on chemo treatment.
If you are unmutated and have Tri 12 you have a 41% chance of having Notch 1.
our data suggest that almost half of IGVH unmutated/ZAP70+ trisomy 12 CLL patients (41.9%) harbor NOTCH1 mutations, indicating that NOTCH1 activation is strongly associated with trisomy 12.
I’m Fish Normal and Mutated I don’t know if this maters or what it means but it says my mutation is IGVH family V3-23 IGHJ Family J4. Mutated frequency 3.1%. Question for anyone that may know what relevance does IGVH family V3-23 and IGHJ Family J4 mean ?
Thank you, Scott! That explained what I was missing about the p and q and D12Z3. Is 50% of a sample pretty typical? Does it mean half my cells have CLL? It sounds like a lot.
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FISH TEST
TP53 Testing
chronic coughing and scaring lesion on lungs of CLL patients
All normal fish report. No deetions 
