[kemscm]

What chromosomal abnormalities do I have?

by kemscm on Fri May 26, 2017 12:45 am

I have read an awful lot of stuff in this forum but I have not seen anything reported in this format. It is hard for me to tell what abnormalities I have. My hem/onc doc said that the reporting was nonstandard, but that it did put me in the high risk group. Can anyone interpret this? I would appreciate it.

ISCN Nomenclature: nuc ish(ATM,TP53)x4[33/200],(D13S319x1)[38/200],(IGHx2)[49/200]

FISH analysis identified a gain of the ATM locus on chromosome 11 & the D13S319 locus on chromosome 13, and a deletion of the D13S319 locus on chromosome 13 & the IGH locus on chromosome 14.

In 33 of 200 interphase cells examined (16.5%), there is a gain of a signal for the ATM and TP53 loci.
In 38 of 200 interphase cells examined (19%), there is a loss of a signal for the D13S319 locus.
In 49 of 200 interphase cells examined (24.5%), there is a loss of a signal for the IGH locus (the loss was intact signal, no rearrangement was observed)

This assay was performed using bone marrow aspirate that has been enriched for plasma cells using the EasySep® Human Whole Blood CD138 Positive Selection Kit (STEMCELL Technologies) designed to isolate CD138+ (syndecan-1) cells from whole blood and bone marrow by positive selection. Desired cells are targeted with Tetrameric Antibody Complexes recognizing CD138 and dextran-coated magnetic particles.

Dual-color and single-color FISH analyses were performed on interphase nuclei. The Idual-color analyses use probes for chromosome 11q22.3 (ATM) and chromosome 17p13.1 (p53) which can detect deletion or amplification of these genes and break-apart probes for 5’ and 3’ ends of the IGH gene that detect rearrangements of the IGH gene. The probe for the D13S319 locus of chromosome 13 which can detect interstitial deletions of chromosome 13 is also used.

This test was developed and its performance determined by the Center for Genetic Testing. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. Pursuant to the requirements of CLIA'88, this laboratory has established and verified the test's accuracy and precision.

200 nuclei examined for each probe set

Cytogenetic Risk-Stratification for Multiple Myeloma (based on Mayo Clinic Risk Classification, Rajkumar.2014)

Standard-risk
Trisomies (hyperdiploidy)
t (11;14)
t (6;14)

Intermediate-risk
t (4;14)

High-risk (In the presence of concurrent trisomies, patients with high risk cytogenetics should be considered standard-risk)
17p deletion
t (14;16)
t (14;20)

[Multibilly]

Re: What chromosomal abnormalities do I have?

by Multibilly on Sat May 27, 2017 8:18 am

Hi Kate,

Sorry, but I can't accurately decipher this report.

I would suggest that you ask your doctor which specific abnormalities you have based on these test results. Alternatively, the pathologist that ran the iFISH test should be listed on the iFISH report and you could contact him/her (I've done this before).

I would then ask how these results translate into those abnormalities listed in Table 4 of the following article:

https://myelomabeacon.org/forum/article-about-cytogenetics-chromosomal-abnormalities-t6271.html

[kemscm]

Re: What chromosomal abnormalities do I have?

by kemscm on Sun May 28, 2017 4:53 pm

Well, if you can't understand it, then I won't feel bad about not understanding it myself. You seem to be very knowledgeable about multiple myeloma. Thanks for responding!