[Multibilly]

Great article - cytogenetics (chromosomal abnormalities)

by Multibilly on Tue Nov 03, 2015 9:46 am

This is a pretty sophisticated article intended for doctors, but it is chock full of lots of useful insights on how to interpret cytogenetic tests results for various stages of multiple myeloma:

A M Rajan and S V Rajkumar, "Interpretation of cytogenetic results in multiple myeloma for clinical practice," Blood Cancer Journal, Oct 30, 2015 (full text of article)

Abstract:

The interpretation of cytogenetic abnormalities in multiple myeloma (M​M) is often a challenging task. M​M is characterized by several cytogenetic abnormalities that occur at various time points in the disease course. The interpretation of cytogenetic results in M​M is complicated by the number and complexity of the abnormalities, the methods used to detect them and the disease stage at which they are detected. Specific cytogenetic abnormalities affect clinical presentation, progression of smoldering multiple myeloma (SMM) to M​M, prognosis of M​M and management strategies. The goal of this paper is to provide a review of how M​M is classified into specific subtypes based on primary cytogenetic abnormalities and to provide a concise overview of how to interpret cytogenetic abnormalities based on the disease stage to aid clinical practice and patient management.

[Mags]

Re: Great article - cytogenetics (chromosomal abnormalities)

by Mags on Tue Nov 03, 2015 10:52 am

Hi,

Thanks for this. You are always great source of information, and wonder if you can give me your understanding of the 14:16 translocation please? I have this and deletion 13 and am aware it is now known as high risk, but why does the table for smoldering multiple myeloma show it as standard risk but high risk for multiple myeloma? Somewhat confused and as it's quite close to my heart would really like to understand it.

For info, I presented at 51 with renal failure (GFR 30% now), 1120 IgG lambda and 10% plasma cells. Had 8 months of Velcade / dex followed by autologous stem cell transplant (ASCT) and no maintenance (live in the poor relation of cancer drugs UK) and am OK and within normal range 3 years this Christmas (Christmas doesn't quite look as appealing with the 2-3 years overall survival for this translocation ,,, gulp)

Kind regards,
Margaret

[Multibilly]

Re: Great article - cytogenetics (chromosomal abnormalities)

by Multibilly on Tue Nov 03, 2015 1:38 pm

Well, as the article states:

A given abnormality may have a totally different meaning based on the disease stage. For example, trisomies are associated with a higher risk of transformation from SMM to M​M but lower risk of progression from onset of multiple myeloma to end-stage disease.

The Mayo considers t(14;16) to be high-risk for both newly diagnosed and relapsed multiple myeloma patients (which you would appear to be should you ever need treatment again), but other organizations may or may not disagree with those findings. See the Mayo's mSMART guidelines that the article also references: http://www.msmart.org/about.html .

[Mister Dana]

Re: Great article - cytogenetics (chromosomal abnormalities)

by Mister Dana on Tue Nov 03, 2015 9:49 pm

Thanks, Multibilly. It is an excellent article and you have once again done us all a service by finding it!

[mikeb]

Re: Great article - cytogenetics (chromosomal abnormalities)

by mikeb on Wed Nov 04, 2015 4:44 pm

Thanks, Multibilly, for the link. I expect this paper will be very influential. It seems like a good summary of a lot of information.

Mike

[Multibilly]

Re: Great article - cytogenetics (chromosomal abnormalities)

by Multibilly on Wed Nov 04, 2015 5:41 pm

Thanks Mike. I agree that I think this paper will indeed be influential. I also think it will also be one of those reference docs that people will cite a lot on this forum when cytogenetics-related questions come up.

I also like it because it gives me a good reference for probes to ask for if and when I get my next bone marrow biopsy. As I compare the Mayo list of comprehensive FISH probes to the ones used on my first and only FISH test, I find the probe list used on my test to be wanting.

[mikeb]

Re: Great article - cytogenetics (chromosomal abnormalities)

by mikeb on Thu Nov 05, 2015 5:00 pm

Good point, Multibilly, about using this article as a guide for probes to ask for on upcoming BMBs. I had not thought of that, but it's worth keeping in mind. Again, thanks for the post!

Mike