Evaluating the Evolution of Myelodysplastic Syndrome Diagnostic Criteria

At the Society of Hematological Oncology 2025 Annual Meeting, CancerNetwork® spoke with Sanam Loghavi, MD, following her role in a discussion titled “The Evolving Landscape of Anemia in MDS & MPNs: Clinical Updates and Best Practices”.

During the conversation, when asked about how the diagnostic criteria for myelodysplastic syndrome have changed over the past decade, Loghavi stated that there has not been much change, though several myelodysplastic syndrome subtypes have been added based on genetics.

Loghavi, an assistant professor in the Department of Hematopathology in the Division of Pathology and Lab Medicine at the University of Texas MD Anderson Cancer Center, added that the “cornerstone” of making a myelodysplastic syndrome diagnosis is morphologic dysplasia. However, that may change due to the concept of clonal cytopenia of uncertain significance. Many of the patients found to have it are known to have functional myelodysplastic syndrome.

She concluded by saying that, as the field continues to grow, the requirement for morphological dysplasia may become less important in the presence of molecular drivers of myelodysplastic syndrome.

Transcript:

Despite what should have happened because of the evolution of our knowledge, the diagnostic criteria for [myelodysplastic syndrome] have not changed much. We have introduced a couple of subtypes of [myelodysplastic syndrome] in the broader category of [myelodysplastic syndrome] diagnosis based on their genetics, but, to this date, with the exception of a few [myelodysplastic syndrome]-defining genetic alterations, the cornerstone of making a diagnosis of [myelodysplastic syndrome] is morphologic dysplasia. It’s cytopenias with morphologic dysplasia in the bone marrow. This is something that we will see.

It will change in the next few years because of the concept of clonal cytopenia of uncertain significance, which is now thought of as a potential precursor to [myelodysplatic syndrome], at least in some cases. We know that a lot of these patients functionally have [myelodysplastic syndrome]. The differences between CCUS, or clonal cytopenia of uncertain significance, and [myelodysplatic syndrome], if you look at the books, are just the presence or absence of morphologic dysplasia. In terms of the behavior of the disease, some patients with molecularly high-risk CCUS do have a disease that behaves like [myelodysplastic syndrome]. We’re going to see that in the future iterations of the classification, this requirement for morphologic dysplasia may become a little bit less important in the presence of molecular drivers of [myelodysplastic syndrome], if the patient functionally, and by their cytopenias, has [myelodysplastic syndrome], and you’ve excluded all reactive causes of cytopenias.