Forums
2 posts
• Page 1 of 1
study on chromosome mutations
I have been diagnosed in may with multiple myeloma. I am looking for information on chromosome deletion and mutations and what that means to me. I have seen articles on chromosome 13 deletion and chromosome 9 deletion and chromosome 1 duplication/mutation, but nothing that combines any of these. As you have gathered my biopsy came back with all of these, and the single articles are not good on the prognosis, can't imagine what it is with a combination of all. At the intial biopsy, I was at a 60% cell count, the last one was at 27% in Dec, but still not low enough for my intial SCT. Have had three different treatments that did not work, Velcade/dex, Revlimid/dex, a cocktail of various moderate dosage chemo, given to me in a 5 day stint at the hospital that left me at 27%, now am on Rev/Krypolis/dex which my multiple myeloma is finally responding at least on the protein level side that has dropped from 11 to .7. I know that it is virtually impossible to give a general prognosis with so many variables, but is there any studies that can get it close for my situation. The not knowing part is the worst part for me and multiple myeloma.
-
badboy61 - Name: bryan downie
- Who do you know with myeloma?: none
- When were you/they diagnosed?: May 2012
- Age at diagnosis: 51
Re: study on chromosome mutations
Dear badboy61,
I have a couple of comments:
1) the chromosome 13 deletion may not necessarily be a high-risk marker. It is only considered high risk if it is picked up on routine cytogenetics. If it is detected by FISH but not by routine cytogenetics, it is not considered high risk. (~40% of patients have the 13 deletion abnormality by FISH and the numbers of high risk patients are not that high). Do you know what technique(s) was/were used to identify your chromosome 13 deletion?
2) There are other factors that influence prognosis beyond cytogenetics. For example, stage (as determined by the International Staging System), LDH, the presence of kidney failure at diagnosis and extramedullary disease at diagnosis all contribute to a determination of prognosis.
3) With the fast pace of advances in myeloma, it is hard to provide patients with exact numbers regarding survival, simply because it is a moving target. Survival is improving. You have clearly benefitted from therapy with carfilzomib, Revlimid and dexamethasone, and carfilzomib has only been FDA approved for a half-year. pomalidomide should be FDA approved in February and there are several other exiciting compounds in the queue.
4) In a large study from the UK, they identified chromosome 1q gains as high risk. They looked at cheomosome 13 by FISH and it was not associated with high risk disease when accounting for the other high risk abnormalities. The chromosome 9 deletion was not assessed. For those with stage I disease and 1 adverse cytogenetic abnormality, the average survival was 67.8 months. For those with 1 high risk cytogenetic abnormality and stage II or III disease, the survival on average was 41.3 months. Realize that patients on this study were not treated with revlimid-, velcade- or carfilzomib-based therapy. They either received conventional cytotoxic chemotherapy or a thalidomide-based regimen as initial treatment. As such, I would take these survival numbers with a grain of salt.
The bottom line is that a drop in your M spike from 11.0 to 0.7 g/dL is absolutely terrific, so what you are doing now is working. Keep up the good work!
I hope this helps. Take care!
Pete V.
I have a couple of comments:
1) the chromosome 13 deletion may not necessarily be a high-risk marker. It is only considered high risk if it is picked up on routine cytogenetics. If it is detected by FISH but not by routine cytogenetics, it is not considered high risk. (~40% of patients have the 13 deletion abnormality by FISH and the numbers of high risk patients are not that high). Do you know what technique(s) was/were used to identify your chromosome 13 deletion?
2) There are other factors that influence prognosis beyond cytogenetics. For example, stage (as determined by the International Staging System), LDH, the presence of kidney failure at diagnosis and extramedullary disease at diagnosis all contribute to a determination of prognosis.
3) With the fast pace of advances in myeloma, it is hard to provide patients with exact numbers regarding survival, simply because it is a moving target. Survival is improving. You have clearly benefitted from therapy with carfilzomib, Revlimid and dexamethasone, and carfilzomib has only been FDA approved for a half-year. pomalidomide should be FDA approved in February and there are several other exiciting compounds in the queue.
4) In a large study from the UK, they identified chromosome 1q gains as high risk. They looked at cheomosome 13 by FISH and it was not associated with high risk disease when accounting for the other high risk abnormalities. The chromosome 9 deletion was not assessed. For those with stage I disease and 1 adverse cytogenetic abnormality, the average survival was 67.8 months. For those with 1 high risk cytogenetic abnormality and stage II or III disease, the survival on average was 41.3 months. Realize that patients on this study were not treated with revlimid-, velcade- or carfilzomib-based therapy. They either received conventional cytotoxic chemotherapy or a thalidomide-based regimen as initial treatment. As such, I would take these survival numbers with a grain of salt.
The bottom line is that a drop in your M spike from 11.0 to 0.7 g/dL is absolutely terrific, so what you are doing now is working. Keep up the good work!
I hope this helps. Take care!
Pete V.
-
Dr. Peter Voorhees - Name: Peter Voorhees, M.D.
Beacon Medical Advisor
2 posts
• Page 1 of 1