hello, i just got my mothers reports of FISh it says 13 q deletion, i dont understand what that means, it would be very helpful if i can understand in layman's language and what it means, i am just very scared of the report, i am not going to the doctor as the report of karyotyping is still pending. once we will have that we would go to the doctor, in the meantime having the FISh test and not doing anything is very disturbing. replies would be very helpful.
INTERPRETATION: Fluorescence in situ hybridization (FISH) with above mentioned probes showed evidence of heterozygous deletion of 13q in 112/200 interphase cells (Freq. 56%). The heterozygous 13q deletion is a recurrent abnormality in CLL and is generally associated with favorable prognosis as per lit reports.
Signal pattern showed no evidence of MYB (6q23) deletion, 17p deletion and ATM (11q22) deletion.
Trisomy 12 Analysis:
INTERPRETATION: Signal pattern did not show evidence of trisomy 12.
IGH (14q32) translocation Analysis:
INTERPRETATION: Fluorescence in situ hybridization (FISH) with an above mentioned probe did not show evidence of IGH translocation.
Impression: 13q deletion positive case.
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ABHINAVGARG
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In layman’s terms this is as good as it gets ABHINAVGARG! 13q deletion as the report says is generally associated with the most favourable outcome in terms of time to treatment, response to treatment and overall survival time.
There’s no evidence of the more aggressive markers such as 17p and no evidence of intermediate markers like 11q or trisomy 12.
I appreciate this is a very simplistic explanation but if my FISH tests reveal the same biomarkers, I’ll be very pleased and relieved indeed. Of course it’s not the whole story but it’s a very good profile and I’m pleased to see this as I know how worried you all are.
Yes this is great and actually I’m a 13q deletion as many of us are.
Ideally you also want two more genetics tests: the PCR test for TP53 mutations, and the IGVH mutation test.
Once you have all those it will give you some idea of how fast the disease is likely to progress. And will influence what treatment is used when that is needed.
Note that even tho 13q is a good prognostic marker it is a matter of improving your chances of slow progression. It doesn’t guarantee that. Some people with good markers do progress quicker than we thought they would and some people with bad markers go slower.
The other good news is that even for those who have had markers the newer treatments provide a good option for treatment something that wasn’t there even a few years ago.
Chromosome analysis or karyotyping is a test that evaluates the number and structure of a person's chromosomes in order to detect abnormalities.
Abnormalties and damaged or missing genes, is what causes CLL. Some damage is worse than others, 13q is the best damage in CLL and usually an indication of a very slow moving disease. 👍🏼
To expand on GMa27's answer, the IGHV hypermutation test has become very important recently in determining treatment choice. Nearly 20 years ago, it was discovered that those with hypermutated IGHV CLL generally went longer before needing treatment and had longer remissions after treatment than those without hypermutated IGHV. With the advent of non-chemo drugs, knowing IGHV hypermutation status has proven a useful means of deciding whether chemo or non-chemo treatment is the better option (where that choice exists). If your mother has the hypermutated IGHV form of CLL, she may be good candidate for FCR treatment should she get to the stage of needing treatment (and assuming FCR hasn't been superseded by then). Otherwise, she may do better on a maintenance non-chemo treatment (assuming there isn't a limited time non-chemo combination treatment by then that provides remissions as long as FCR for those with hypermutated IGHV CLL).
IGHV hypermutation status testing has a reputation of not being easy to perform reliably; the testing needs to be done in a lab that knows how to do it properly. That difficulty resulted in lots of research to find easier, more repeatable and less costly surrogate testing method. From that work, it has been determined that patients who are negative to both CD38 and ZAP-70 expression in their Flow Cytometry test results have about a 70% chance of being IGHV hypermutated.
Sadly every CLL treatment has a percentage of people who don't respond. Prognostic markers only predict likely group responses, not that of individuals. Thankfully we are gradually being provided with more choice and you have found something that works for you .
I think it's wonderful you are there for your mother, and she has your support. We were told the same thing (my husband has the CLL), regarding being 13q deleted -- that it's a favorable marker and my husband my not need treatment for a long time, if ever.
I wish his doctor hadn't had put it that way. Upon his next appointment, when he was first diagnosed, his lymphocytes has doubled in three months time, and his lymph nodes and spleen were getting larger. This time, his doctor said he suspected he would need treatment before year's end. You can imagine our dismay and disappointment, as he has good markers (also mutated), and the doctor first told us it would most likely be a long time before needing treatment.
I only tell you all this so you can be prepared for either scenario. No one told us, and thus we were unprepared for the news.
Everyone is different, and people with more serious markers can go also go years without needing treatment, so I think it doesn't mean much except for those considering chemo. 13q deletion apparently has a better outcome with chemo. But, other than that, I think the chips fall where they may.
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Interpretation of results
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