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MPN Workshop of the Carolinas 2025 | Approaching the categorization of MDS/MPN overlap syndromes
In this video, Sanam Loghavi, MD, The University of Texas MD Anderson Cancer Center, Houston, TX, discusses the approach to categorizing myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes, such as chronic myelomonocytic leukemia (CMML). Dr Loghavi highlights that these malignancies have a unique molecular landscape and that the genetics of a patient’s disease define the phenotype. This interview took place at the 2nd Annual MPN Workshop of the Carolinas, held in Charlotte, NC.
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Transcript
So MDS/MPN overlap syndromes really have their own big, you know, designated category. So there’s an umbrella category of MDS/MPNs. And then, of course, the poster child for this is chronic myelomonocytic leukemia or CMML. So by definition, these diseases have features that both clinically, in terms of having cytoses and cytopenias, and also in their molecular landscape, cross over between myelodysplastic syndromes and myeloproliferative neoplasms...
So MDS/MPN overlap syndromes really have their own big, you know, designated category. So there’s an umbrella category of MDS/MPNs. And then, of course, the poster child for this is chronic myelomonocytic leukemia or CMML. So by definition, these diseases have features that both clinically, in terms of having cytoses and cytopenias, and also in their molecular landscape, cross over between myelodysplastic syndromes and myeloproliferative neoplasms. So for instance, a patient with myelodysplastic type CMML can have a molecular landscape that is more akin to MDS, but also some CMML-specific or CMML-defining molecular alterations, like a combination of SRSF2 and TET2. And then a patient with myeloproliferative CMML may have RAS pathway mutations that lead to the exaggerated proliferation of cells and the very elevated high white cell count that they present with. So again, really the genetics of the disease define the phenotype of the disease.
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