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Missing genes

by juliofrippo on Wed Feb 26, 2014 1:24 pm

After completion of several months of chemo, my test result (marrow, blood) indicated no sign of multiple myeloma. Even so, I was advised to go through with my planned transplant. The transplant was a complete success and I have been in complete remission for almost one year.

However, according to my laboratory results, I have a deletion of gene 17P and P53. As I understand it, once gone, these genes needed to produce infection fighting cells in my blood are not replaceable.

It seems logical that the absence of these genes will have an adverse effect on my ability to remain in remission. Has anyone reading this forum had any experience with missing genes after being diagnosed with multiple myeloma?

juliofrippo

Re: Missing genes

by Multibilly on Thu Feb 27, 2014 7:42 pm

Many multiple myeloma patients have many different genetic mutations associated with this disease, including the deletions you mentioned (technically, you are talking about a specific gene (TP53) on the 17p chromosome (the short (petit) arm of chromosome #17). TP53 is indeed an important gene that is involved in the natural death process of cells.

You can also have gains and translocations of chromosomes. All of these mutations can also evolve over time as the disease itself is constantly evolving.

While the TP53 gene deletion is in general a negative prognostic factor, that is not always the case for everybody with multiple myeloma. You can also have mutations that are beneficial to your prognosis. Your specialist will factor all this in as he prescribes treatments for you over time. You should definitely be discussing all this with him.

At the end of the day, your mutations "are what they are". But there are implications for the type of drugs you would select if you relapse and there are currently trials under way to investigate the efficacy of certain classes of myeloma drugs for those individuals with the 17p deletion.

Multibilly
Name: Multibilly
Who do you know with myeloma?: Me
When were you/they diagnosed?: Smoldering, Nov, 2012

Re: Missing genes

by juliofrippo on Fri Mar 07, 2014 1:26 pm

I was diagnosed in October 2012 as stage 3. Following induction treatment I opted for an Auto BMT almost one year ago. Thankfully, I achieved a complete response and have been in remission since. I do have a question concerning the results om my initial bone marrow tests.

Results included:

Abnormality of the TP 53 (p53) region and atypical CCNDI/IGH fusion (t 11;14). Not sure what all of this means but with all of this, there was also a deletion of 17p and abnormalities with -13, -17 14q32 IIGH,sep)

Once there is a plasma cell deletion and/or an abnormal result, can those cells regenerate back to normal with a BMT and any other required treatment? I don't remember for sure, but I think I was told by one physician that theses deleted cells will not regenerate. Does anyone have any more information on this subject.

Thank you.

juliofrippo

Re: Missing genes

by juliofrippo on Fri Mar 07, 2014 1:30 pm

Thanks for the information Multibilly. I missed reading your response before I posted a similar question to this one concerning regeneration of plasma cells. Again, thanks.

Moderator's note: The similar posting that juliofrippo made has been merged into this topic (directly above).

juliofrippo


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