I was diagnosed 18 months ago, and am still on watch and wait. I have material of an unknown origin on chromosome 20. Does anybody know more

[Granathon]

The unknown materials are on the P arm of chromosome 20.

[HAIRBEAR_UK Founder Admin]

I cannot locate information about 20p aberrations in CLL. I found a few recent papers mentioning the odd rare occurrence of a 20p aberration on the p arm of chromosome 20 in CLL but apparently 20q gains are quite common in CLL;

In a recnt study it was "also confirmed that deletions are more abundant than gains in CLL: deletions in chromosomes 5, 7, 11, 13, 17 and 18 and gains in chromosomes 1, 6, 10, 11, 12, 16, 17, 18 and 20 were present in this series. Regarding other recently reported alterations, we observed gain on 2p [34] in one case."

This information suggests that there is a much greater diversity of genomic aberrations in CLL than previously thought. Further studies are required to understand their significance.

I do recall reading that 20p aberrations may play a role in other conditions Maybe more experienced or expert members have information?

annonc.oxfordjournals.org/c...

[Cllcanada Top Poster CURE Hero]

What percentage of cell had gains? It may have little meaning at low percentages...

[Granathon]

I have no more information . When I asked my consultant about the significance he said he didn't know!!!

[Cllcanada Top Poster CURE Hero]

There are many new markers like this which haven't been fully 'discovered' yet, meaning they don't know what they mean in terms of CLL, if anything...

We have much to learn still...

[splashsplash]

It's true that the information in this field is ever shifting. When I was diagnosed with Tri 12, I was told it was not such a bad bucket to be in and now recent research has said Tri 12 can be a bad or a good thing. I would really like to know how to find out which mine is and whether it means the new KID drugs will work on me.

[HAIRBEAR_UK Founder Admin]

Intermediate was how it was described to me on my diagnosis, but there were differing ends of the scale. (some were more intermediate than others). I always felt knowing I was +12 was of no great help?

At the moment for me nothing has changed, the probabilities remain the same, just that recently identified markers may show us in the future how to narrow this down.

The NOTCH 1 mutation found mainly in trisomy 12 CLL has been shown it is present in a minority who have a poorer prognosis. The mutation is found in some unmutated trisomy 12 patients, but the test for it is only a research tool at the moment. Dr Sharman discussed it in his recent blog, perhaps in time there will be a clinical test translated that can rule this out.

There are so many variables that impact on our future during a CLL journey I doubt that one marker alone would offer a definitive prognosis. My understanding is that the novel targeted therapies in trial are showing promise for treating all CLL types including those hardest to reach. My understanding is that trisomy 12 is one of the more treatable.

I guess more time is needed. I don't know if this was any help?

Nick

[HAIRBEAR_UK Founder Admin]

apologies, Chris has just let me know that the test is now available in the US.

...

CLL CompleteSM includes cytogenetics, immunohistochemistry,

and molecular diagnostics methodologies. The tests included are:

MatBA®-CLL Array CGH

IGHV Mutation Analysis

NOTCH1 Mutation Analysis

SF3B1 Mutation Analysis

TP53 Mutation Analysis

FISH: TP53, ATM, D13S319, c-MYB, chr.12, CCND1/IGH

Karyotyping

CD38

ZAP-70

Blood or Bone Marrow...

cgimatba.com/matba-for-cllsll/