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Cytogenetic Report

by KAD on Mon Jul 05, 2010 7:21 pm

I just received the following cytogenetics report :
Fusion of FGFR3/IGH or t(4:41)(p16.3;q32.3)
Deletion of D13S319 at 13q14.3 with the 13qter subtelomeric probe D13S1825 as control and
Deletion of TP53 at 17p13.1 with centromeric D17Z1 as control
No evidene fo anamalies of the probes was detected.
Karyotype 46,XX(25)
Clonal chromosome abnormalities were not detected in the cells.

Can this please be explained. Thank you.

KAD

Re: Cytogenetic Report

by Dr. Craig Hofmeister on Thu Aug 19, 2010 3:12 pm

I agree, reading these darn cytogenetic reports is hard. They often provide some English in there, thank goodness. It's at the bottom none of the FISH probes that they used were detected -- hence her myeloma FISH panel was normal. The XX is her normal female karyotype of 46 chromosomes -- no additional genetic abnormalities were detected. In essence, based on the available genetics, this patient has standard risk myeloma.

In truth for a complete myeloma FISH panel (you included just 3 probes where a complete set is often 5-10), this means that either all the myeloma cells died on transport from the room where the bone marrow aspirate was performed or there were no myeloma cells in the marrow sample in the first place. A complete FISH panel is almost always abnormal in myeloma patients and the karyotype study is abnormal 20-40% of the time in newly diagnosed patients.

Best of luck

Dr. Craig Hofmeister
Name: Craig C. Hofmeister, M.D.

Re: Cytogenetic Report

by Gina on Thu Oct 07, 2010 7:55 pm

My cytogenetics reports have been normal as well. However, it noted that there were few cells in both reports. The first one was done from my hip. The next one was done from my sternum because I had radiation to the hip. Should I request someone else to do the bone marrow aspirate or is it fairly common to have few cells?

Second question, when I was diagnosed, only my lambda light chain was elevated. Two months after my stem cell transplant, my lambda and kappa light chains were both slightly elevated. What is the significance of this? I have never had a M spike or other heavy chain elevations. I had multiple tumors and lesions throughout my skeletal system.

Gina
Name: Gina
Who do you know with myeloma?: Me
When were you/they diagnosed?: November, 2009
Age at diagnosis: 42

Re: Cytogenetic Report

by Dr. Bijay Nair on Mon Oct 11, 2010 10:03 am

No, there is no reason to repeat the bone marrow right now. This can happen when samples are drawn from sites of prior radiation, and also less frequently from non-irradiated sites.

If the lambda to kappa ratio is normal, then it is most likely not related to myeloma. Elevation of both light chains can occur with inflammation or infection.

Dr. Bijay Nair
Name: Bijay Prabhakaran Nair, M.D.


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