[mom22]

Translation of FISH results

by mom22 on Tue Apr 07, 2015 12:15 pm

Can someone help me trans­late these FISH results?

"Three copies of Iq21 detected in 10% of the cells. Deletion of 13q14.3 detected in 87% of the cells including 48% with deletion of 13q34 as well. Loss of TP53 gene detected in 5% of the cells. This finding slightly exceeds upper level of the variation for the test. A follow-up sample is suggested if clinically indicated. No evidence of FGFR3-IGH fusion."

I really appreciate any help translating these labs for a newbie!

Thank you.

[Dr. Jason Valent]

Re: Translation of FISH results

by Dr. Jason Valent on Tue Apr 07, 2015 1:25 pm

The del(17p) ("loss of TP53 gene") is a bit hard to interpret as it is only present in a small percentage of cells and may not be significant. The upper limit of variation for this test is generally a cutoff of 3% of the cells.

Deletion 13q14 by FISH only is not of itself adverse. If the deletion 13q14 is also detected by conventional karyotyping, it is considered adverse.

The gain of 1q21 may be significant and would be considered an adverse chromosome ab­nor­mality prognostically.

From a prognostic standpoint, or to see if a stem cell transplant would be of benefit or not, you could ask that a MyPRS test is run on your bone marrow specimen. Something to discuss with your doctor.

[mom22]

Re: Translation of FISH results

by mom22 on Wed Apr 08, 2015 1:55 am

Thank you for your feedback! I will reach out about the DNA analysis.