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Acute Myeloid Leukemia Mutations and Genes

June 27, 2022      Andrea Smith      Leave a Comment

One of the biggest diagnosis and treatment plan indicators is the mutations that come with AML the most deadly leukemia. Some mutations are more of a problem than others. When I was diagnosed they told me had multiple mutations but they didn’t go into any details other than writing on my board AML FLT3.

In order to find out what mutations I had, I had to do a little digging into the bone marrow report to see what was also present in my bone marrow and blood. I had what they call FLT3-ITD, NPM1, and DMND3A.

FLT3-ITD

What is it? It’s an aggressive hematologic malignancy with a generally poor prognosis with only a 10%-20% cure rate. It can be treated by intense chemo but it’s a very high risk of relapse. It also at any time can come back untreatable. My doctor called it a smart mutation which I think adaptable is a better description than smart.

Thirty percent of people with AML have the FLT3-ITD. That is a huge percentage of people with a poor prognosis.

About 5 years ago they approved a drug that helps put the breaks on the FLT3 mutation making it easier to keep the ones in remission to get to transplant. I was very blessed to be one of those people. I went into remission after the first three-week treatment process and I stayed there through the transplant process.

NPM1

NPM1 is actually a gene and the most commonly affected gene in AML. The abnormalities or blood cancer which form on this gene are called cytogenetically or CN-AML. They can cause a loss or gain of function of leukemia.

DMND3A

DMND3A is recurrent in people with AML and yields a poor event free with poor servival when present with the FLT3 and NPM1. What information I can find it’s involved in the development of AML All of this information is hard to understand.

When I first researched the mutations and genes I was more worried about the FLT3 mutation than anything but none of the other stuff seems to be much better or yield a better prognosis.

I added a few links for you to look into and read more about the mutations and genes involved in my diagnosis and treatment.

If you would like to share your diagnosis with me I would be thrilled to communicate with you.

XXX to all.

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Hello, I’m Andrea

Hello, I’m Andrea

I'm Andrea. I'm living one day at a time. I hope you stick around to follow my journey with AML, Stem Cell Transplant, weightloss, anxiety, and anything else that comes up.

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