[Grizabella]

Can multiple myeloma change its genetic abnormality?

by Grizabella on Mon Apr 14, 2014 8:23 am

My sister has had multiple myeloma since 2004. She had chemo and radiation to get rid of a single plasmacytoma in L2. Then eventually had a stem cell transplant in 2009.

Almost a year ago she started developing shoulder pain that kept escalating. She was diagnosed with bursitis, even received cortisone shots as part of her treatment. When nothing worked, and the pain spread to both shoulders, they had her get an MRI. That's when they saw lesions on both shoulders that had broken through the bone. She now had extramedullary multiple myeloma.

They set up a treatment plan but, because of all the delays, the extent of the damage was severe and she ended up fracturing her right humerus. She had emergency surgery with intramedullary rod and nailing. Since then nodules began popping up in her back and abdomen. Doctor said she had a very aggressive form of multiple myeloma. I asked him about the FISH test but he said he didn't need one to know she was high risk and had the worst type.

They did a biopsy on one of the nodules and it states "positive for CD138 and CD56 and are negative for CD20 and CD3. MYC is positive in most of the tumor cells. This test has not detected rearrangement of the MYC gene. However additional copies of the MYC gene have been detected in 68% of cells, indicating presence of chromosome abnormality. These findings support the diagnosis of plasmablastic/anaplastic plasma cell".

I have always argued that the aggressiveness stems from delays and the surgery. Am I wrong? Could multiple myeloma change it's profiling?

[TerryH]

Re: Can multiple myeloma change its genetic abnormality?

by TerryH on Mon Apr 14, 2014 10:05 am

Sorry to hear about your sister's current situation, Grizabella. I hope her doctors are able to come up with an effective treatment plan.

I would have to do some digging to come up with a useful interpretation of the biopsy results. There are a couple of folks here, however, that may be able to interpret it more quickly.

However, to your more fundamental question, "Can the chromosomal abnormalities involved in a person's multiple myeloma change over time?", the answer is yes. Unfortunately, the way the disease typically changes is that the chromosomal abnormalities become more and more the kind that are markers of myeloma that is difficult to treat.

There was another discussion thread on the topic recently that you may want to read through. This link will take you there:

https://myelomabeacon.org/forum/can-cytogenetics-chromosomal-abnormalities-change-t2927.html

Good luck to you and your sister, and please let us know if you find out more details, including the treatment that is selected for her and how it goes.

[Multibilly]

Re: Can multiple myeloma change its genetic abnormality?

by Multibilly on Mon Apr 14, 2014 12:22 pm

Grizabella,

I too am sorry to hear about your sister.

Terry is right in that the disease (and the associated cytogenetics) can change and evolve over time.

Moreover, you can actually have different cytogenetics present in an extramedullary disease (EMD) tumor than you do in one's sample from a bone marrow biopsy. MYC gene over-representation (extra copies) also appears to happen more frequently with EMD. See: http://www.ncbi.nlm.nih.gov/pubmed/23368088

I hope she is in good hands with a top multiple myeloma specialist.

[Grizabella]

Re: Can multiple myeloma change its genetic abnormality?

by Grizabella on Mon Apr 14, 2014 8:31 pm

Thanks. Unfortunately she isn't with a multiple myeloma specialist. In fact, looking at her history, I think it's a miracle she's made it this long. Right now she finished the vdpace treatment and is trying to recover. Biggest battle seems to be a respiratory infection. Something has infiltrated her upper lobes. She doesn't test positive for pneumonia and it's not the cancer. They are thinking it might be chemo related or a fungus.

[Dr. Jason Valent]

Re: Can multiple myeloma change its genetic abnormality?

by Dr. Jason Valent on Tue Apr 15, 2014 8:08 am

As myeloma progresses it is not uncommon for additional DNA changes to occur.

[Grizabella]

Re: Can multiple myeloma change its genetic abnormality?

by Grizabella on Wed May 14, 2014 11:25 am

Thanks for all the replies. I actually have a very specific question now.... When the relapse was first confirmed, a biopsy was done to rule out lymphoma and confirm it was indeed multiple myeloma. The biopsy came back as the typical multiple myeloma with the CD138 marking. After her arm broke and nodules began appearing on her body, another biopsy was done on one of those new nodules and it showed plasmablastic cells. My question is, if it was always plasmablastic, wouldn't the original biopsy report state this? Could the invasive surgery have mutated and spread the cells?