Dr. Elli Papaemmanuil discusses molecular profiling of MDS and the use of precision medicine


Although we are still very early in the process of understanding the biological pathways of myelodysplastic syndromes (MDS), our ability to stratify patients according to their genetic mutations will give us in the short term a tool that will allow us to adapt treatments in function of the patients who need it most, said Elli Papaemmanuil, PhD, assistant professor of computational oncology, Memorial Sloan Kettering Cancer Center.

Papaemmanuil led a plenary session at the 2022 Congress of the European Hematology Association (EHA), entitled “Molecular classification and prognosis in MDS”.


Given that MDS is characterized by its heterogeneity, can you discuss current knowledge and how disease subtypes differ in severity and response to treatment?

So myelodysplastic syndromes are really a spectrum of myeloid disorders, and they can be very diverse from each other, ranging from patients who have very low-risk disease, and those are the types of patients that we clinically want to manage with a supportive therapy — they can live up to 10 years — and then, on the other spectrum, we have patients with very high-risk disease. These patients require high intensity therapies and can live from a few months to a year and can often progress rapidly to more acute forms of the disease.

This heterogeneity and the fact that patients can have a very wide range of clinical presentations and outcomes is something that calls into question how to optimally manage and treat patients in the clinic. So we really need tools and metrics that allow us to identify patients who may be low-risk or high-risk so that we can tailor our treatment decisions to each patient’s profile.

How can current knowledge of genetic mutations and biological pathways in MDS influence the use of precision medicine, and what further advances can be seen here?

We are therefore only at the very beginning. The genes that are mutated in MDS have only been discovered in the last 5-10 years. This allows us to understand the underlying biology of MDS, and over time what we really want to enable is the development of drugs that target these biological pathways.

In the short term, our ability to stratify patients based on their genetic mutations will give us a tool to tailor treatments to those patients who need them most. This means that we will minimize toxicities in patients with low-risk disease, but we can intervene early in patients at higher risk of disease progression and transformation.

In the long term, we will be able to link the biological pathways that lead to high-risk diseases, allowing us to develop therapeutic strategies targeting these same pathways. So this is where we can reap both the short-term and long-term benefits by considering the molecular profiles of patients with MDS.


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