How would you define the term COMPLEX KARYOTYP... - CLL Support

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How would you define the term COMPLEX KARYOTYPE in CLL?

jettyguy1 profile image
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The other day this was brought up in a CLL support group that I am involved with. What are the most complex of the Complex KaryoTypes was the question asked? I am also curious, do you have to be unmutated to be classified as having a complex type? And lets say that you don't have deletion P17 or P153? Would having trisomy-12,CD-38 and zap 70 fit the bill? How many deletions or additions are required to join that dubious club? Thanks.

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jettyguy1 profile image
jettyguy1
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Cllcanada profile image
CllcanadaTop Poster CURE Hero

Currently it is 3 or more genetic anomalies, mostly mutations, deletions, additions and chromosome translocations.

The thought recently discussed in a video I posted here, is that 3 or more may or may not be an aggressive CLL, but 5 anomalies is aggressive in all cases.

So I think we will see the 3+ likely changed to 5.

But then, thie issue arises as to how deep you are testing... currently it is pretty much just FISH probes and Sanger, perhaps PCR, but with whole exome sequencing then things will likely change... its a work in progress.

Mutation status, CD prognostic markers have no bearing...

~chris

jettyguy1 profile image
jettyguy1 in reply to Cllcanada

Thanks Chris. The terms seem to be outpacing the disease due to better testing and new findings. Another chapter for a book called CLL for Dummies.

gardening-girl profile image
gardening-girl

A complex karyotype as currently defined refers to 3 or more gross chromosomal abnormalities, that is abnormalities in the number or structure of the chromosomes in the cells being observed. It doesn't refer to single base changes in the DNA, which are referred to as mutations. genome.gov/11508982/chromos...

For example a karyotype reporting a 17p deletion refers to a deletion of the arm of the chromosome 17p, significant because that arm that carries p53, a tumor suppressor gene. Not contributing to a designation of 'Complex Karyotype', but just as significant for us is a single base mutation in the p53 gene that leads to a defective protein.

I don't think that any data being reported from flow cytometry would identify an abnormal karyotype but one from FISH analysis could.

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