Cytogenetics

[Chirley]

I'm pretty clueless when it comes to cytogenetics. I basically understand the additions, deletions and translocations etc but more in depth things like balanced translocations which may be occult etc, leaves me confused.

Having said this, bear with me if my interpretation of an abstract I just read is wrong.

I read a journal article from 2011 which appeared to say that 23% of people with confirmed MDS/AML and had normal BM cytogenetics on FISH were found to have chromosomal abnormalities when peripheral blood studies were performed.

If I have interpreted this correctly, why do they do cytogenetics on bone marrow? Is it simply because they are already there looking at the stem cells?

Regards

Chirley

[MDSPerth]

Not sure, but could it be the other 77%?

[Chirley]

What I was trying to say is they all had BMBs and bone marrow cytogenetic studies. A number of those results came back with no chromosomal abnormalities found on FISH analysis. They then proceeded to do peripheral cytogenetics and they found that 23% of those who had tested with normal BMB chromosomes had abnormal results on blood analysis.

At least I think that's what the article said.

I'm assumed that BMB FISH only uses specific probes and blood analysis looks at more chromosomes....would that be right?

Regards

Chirley

This happened to me. My BMB results showed normal cytogenetics but my peripheral blood showed a 15q deletion.

[Birgitta-A]

Hi Chirley,
As far as I understand different researchers get different results. Here they report that 68% of bone marrow samples from 100 MDS patients showed an abnormal karyotype by conventional cytogenetic studies and/or interphase fluorescence in situ hybridization (FISH) but only 31% of peripheral blood samples from the same patients were abnormal. They recommend that bone marrow should be tested at diagnosis.
http://www.ncbi.nlm.nih.gov/pubmed/22537394
Kind regards
Birgitta-A