Genetic mutations

[bailie]

Can a person have MDS, AML, CML etc. without genetic mutations? Are the genetic mutations what causes the diseases? If the genetic mutations are resolved (with Vidaza for example) does that allow for a complete remission?

[bailie]

I may have found my answer here.

Mutations in specific genes are found in many cases of AML, but larger changes in one or more chromosomes are also common. Even though these changes involve larger pieces of DNA, their effects are still likely to be due to changes in just one or a few genes that are on that part of the chromosome. Several types of chromosome changes may be found in AML cells:
◾Translocations are the most common type of DNA change that can lead to leukemia. A translocation means that a part of one chromosome breaks off and becomes attached to a different chromosome. The point at which the break occurs can affect nearby genes – for example, it can turn on oncogenes or turn off genes like RUNX1and RARa, which would normally help blood cells to mature.
◾Deletions occur when part of a chromosome is lost. This can result in the cell losing a gene that helped keep its growth in check (a tumor suppressor gene).
◾Inversions occur when part of a chromosome gets turned around, so it’s now in reverse order. This can result in the loss of a gene (or genes) because the cell can no longer read its instructions (much like trying to read a book backwards).
◾Addition or duplication means that there is an extra chromosome or part of a chromosome. This can lead to too many copies of certain genes within the cell. This can be a problem if one or more of these genes are oncogenes.

[Cheryl C]

My last biopsy was in Feb 2014, Bailie but at that point no mutations had emerged for me.

[bailie]

Cheryl, that is great! The question about the mutations and/or chromosome translocations interests me. If all genetic mutations and translocations are absent can a person have MDS, CML or AML? Are the genetic mutations the only causes of these diseases? I have the translocation of the Philadelphia chromosome but no genetic mutations. I have had 15 BMBs and they are constantly checking on me because of my high risk status. The last two BMBs have been clear.

[Cheryl C]

Bailie, my understanding is that you can have MDS without any chromosome abnormalities.

I'm going to ask my haematologist if I can have another biopsy next time I see him, because except for WCC/neuts/lymphs my results this year have mostly been just within normal range and better than 4 years ago. No blasts are showing up in peripheral blood which I have tested every 4 weeks. I'm even wondering if I still have MDS. My results now look like they did when I just had idiopathic neutropenia.

Does anyone know of someone whose MDS has spontaneously resolved over time?