The Progression of MDS to AML

About one-third of people diagnosed with myelodysplastic syndromes (MDS) may develop secondary acute myeloid leukemia (sAML).1 Here’s what you need to know about the possibility of developing sAML.

A Spectrum of Disease

MDS, MPN and sAML all exist on the same spectrum of disease. They are referred to as “myeloid malignancies,” which are caused by changes in myeloid stem cells and bone marrow cells.2

MDS and sAML both involve a higher than normal number of myeloblasts, or immature white blood cells, in the bone marrow.3,4 While MPN can involve a high number of myeloblasts, it also impacts red blood cells and platelets.5 As we focus on the role of myeloblasts in the progression of disease, let’s take a closer look at the connection between MDS and sAML.

In healthy people, less than or equal to 5% of blood cells in the bone marrow are myeloblasts, meaning that all the other cells mature as they should. Anything greater than 5% is an indicator of disease.6

MDS is characterized – in part – as having a myeloblast count between 5% and less than 20%. A myeloblast count of 20% or more constitutes sAML.7

Simply put, the more myeloblasts that exist in your bloodstream, the more likely you are to develop MDS and sAML.

Genetic Mutations

There is a series of eight genetic mutations, also called biomarkers, that MDS and sAML have in common, helping to explain the link between the two.8

In addition, sAML also has more specific genetic mutations, called signaling and kinase pathway mutations.8

The continued mutation of genes is one reason why sAML can develop following a diagnosis of MDS.3

If you’ve been diagnosed with MDS previously, consider the following steps to monitor for potential progression:

  1. Check in with your doctor regularly and have conversations about sAML.
  2. Undergo genetic testing, which could reveal some of the mutations mentioned earlier.
  3. Learn more about sAML, including the signs and symptoms.
Genetic Mutations Specific to MDS and sAML8
  • SRSF2
  • SF3B1
  • U2AF1
  • ZRSR2
  • ASXL1
  • EZH2
  • BCOR
  • STAG2
Genetic Mutations Specific to sAML8
  • FLT3
  • KRAS
  • NRAS
  • PTPN11
  • NF1
  • KIT