A GUIDE TO GENETIC MUTATIONS

Your doctor may have ordered a DNA sequencing study to identify mutated genes in your MDS cells. This test can help confirm your diagnosis and provide information about which subtype of MDS you have. Some mutated genes are associated with lower risk disease while others may indicate greater risk. Mutations can potentially identify effective therapies to treat your disease.

CHROMOSOME

Chromosomes are structures within cells that contain a person’s genes. Every person has 46 chromosomes. Each chromosome contains thousands of genes.

GENE

Genes, contained in chromosomes, are segments of deoxyribonucleic acid (DNA) that contain the code for making a specific protein that functions in one or more types of cells in the body.

MUTATIONS

Mutations occur when a gene is damaged and alters the genetic message.

COMMONLY MUTATED MDS GENES

SF3B1
IDH1

DNMT3A
TET2

IDH2
TP53

ASXL1
RUNX1

SRSF2
U2AF1

DISCUSS MUTATIONS WITH YOUR DOCTOR

Knowing which genetic mutations are present in your MDS cells will open discussions with your healthcare provider about individualized risk assessment and treatment.

SOME MUTATED GENES IMPACT MDS PROGRESSION

Clinical trials are exploring the potential benefits of targeting genes known to cause and promote MDS. In some cases, the production of abnormal cells can be interrupted.

GENETIC PROFILES CHANGE OVER TIME

Your profile may change over time therefore it is important to re-characterize MDS at points of progression.

HOW ARE MUTATIONS IDENTIFIED

Genetic mutation profiles are identified by sequencing the DNA using a bone marrow or blood sample.