t(11;14) Translocation

Over the last few days, I've been loading an Excel spreadsheet with lab values from key tests that show whether my Amyloidosis is under control and whether my liver and kidney function are improving.  The key test is the Serum Free Light Chain Assay that measures how much of the bad protein my body is producing.  One item I wanted to include were some of the values from my bone marrow biopsy.  It's nice to have all this information in one place so, as I read studies in the medical journals that reference lab values at different points in time--at diagnosis, after transplant, etc.--I have them in one location.

As I was reading the report from my bone marrow biopsy, I found this entry--

FISH analyses on this sample were positive for loss of the probes for 13q and positive for a t(11;14).  These abnormalities were not seen in the banded metaphase analysis.

I've learned that when a pathologist takes the time to include additional notes with the word "abnormalities" its probably a good idea to understand (as best as I can) the abnormalities.

FISH stands for fluorescent in situ hybridization and, according to Wikipedia, is used to detect and localize the presence or absence of specific DNA sequences on chromosomes. I couldn't find too much on my missing probes for 13q but what I found for t(11;14) wasn't very encouraging.

t(11;14) translocation means that part of my 11th and 14th chromosomes have swapped parts.  It's considered to be an acquired translocation as opposed to one that has been present since conception.  I did some medical literature searches on the impact of t(11;14) translocation on Amyloidosis and found an article from 2009 entitled "Translocation t(11;14) and survival of patients with light chain (AL) amyloidosis".  It was published in Haematologica, the hematology journal of the European Hematology Association.

Some of the highlights, or rather lowlignts from my perspective, include the following statements--

• The risk of death for patients harboring the t(11;14) translocation was 2.1 (CI 1.04–6.4), which on multivariate analysis was independent of therapy.
• Although preliminary, our data would suggest that cIg-FISH testing is important in patients with light chain amyloidosis and that t(11;14) is an adverse prognostic factor in these patients.
• On Cox multivariate modeling the t(11;14) translocation retained its significance despite the addition of treatment administered.
• On multivariate analysis, the hazard ratio for death for patients with this abnormality was 2.5 times that of the other patients without this abnormality.
• One can speculate that the indolent nature of the t(11;14) clones – and perhaps their relative resistance to chemotherapeutic intervention –may explain our findings.

So, to translate some of the clinical study language for those of you not familiar with reading this genre of literature---

• on multivariate analysis was independent of therapy=regardless of the type or effectiveness of treatment, it's bad to have this
• adverse prognostic factor=it's bad to have this because people with this don't do as well as those without it
• hazard ratio for death for patients with this abnormality was 2.5 times that of the other patients without this abnormality=people with this die at 2.5 times the rate of those without it so it's bad to have this.
• relative resistance to chemotherapeutic intervention=chemo is the last line of treatment in Amyloidosis after relapse following two stem cell transplants (two seems to be the max I see people receiving), so if this makes the amyloidosis resistant to chemo then there are no effective treatment options after relapse when stem cell transplant isn't an option so it's bad to have this.

Now, this study was based on only 56 patients who were diagnosed between 1998 and 2006 who had the FISH test panel performed.  They started with over 500 patients but only 56 had the test done so it's not like it was based on a large population.

I have a lot of questions for my oncologist during our appointment in December.  I'm looking forward to hearing her perspective on this.  She always tries to be so encouraging and reassuring that I'm sure she'll tell me not to worry about it.  I think her perspective is that each person's disease progresses in a unique way and understanding whether the progression is from a chromosomal abnormality or something else will have little effect on how she goes about treating the disease.  I love her strong focus on only using information as a rational basis for action.

It's been a rough week at work with a lot of challenges and I've been working through them with this t(11;14) translocation thing in the back of my mind.  It does help me keep work problems in perspective.  When Alan asks me how my day at work went, regardless of what happened, I can say, "My free light chains are still under control so everything else is good."

I know that God can overcome the "adverse prognostic factor" that this chromosomal translocation introduces.  I just need to pray, trust and believe.  It's worked so far.