Treatment by genetic profile

Some treatment options may be guided by the patient’s genetic profile, as described by NGS. For most of these therapeutic decisions, evidence is relatively weak, but we foresee that this guideline section will expand over the coming years.

The following examples are outlined, but it is suggested to discuss with an MDS specialist before taking a decision:

• At some centers, high-risk MDS are treated within acute myeloid leukemia protocols. These may include inhibitors for specific mutations, e.g.  FLT3, IDH1, IDH2.  It should be noted that such inhibitors have not been specifically evaluated for patients with MDS.
• The label for lenalidomide states that patients with del(5q) IPSS low and INT-1 risk MDS and pre-treatment detection of TP53 mutations may suffer a higher risk of disease progression.
• Patients with IPSS-R very low, low, or intermediate-risk MDS and a complex mutational profile (≥3 pathogenic mutations) have a higher risk profile and should be discussed with a transplant center if they are potential candidates for SCT