Myelodysplastic Syndrome with Excess Blasts and Erythroid Predominance (MDS-EB-E) With NPM1 Mutation and P53 Expression

Nucleophosmin 1 (NPM1) mutated Myelodysplastic Syndrome (MDS) is a distinctly rare sub-group of myeloid neoplasm with limited available data describing its biological behavior and outcome using different therapeutic strategies. We describe a case of NPM1 mutated MDS in a middle-aged male with excess blasts and excess erythroid precursors (MDS-EB-E) morphologically mimicking Acute Erythroleukemia (AEL) with an unfavorable outcome following Hypomethylating Agent (HMA) therapy. We briefly reviewed the clinicopathological and genetic landscape data of NPM1 mutated MDS along with the role of p53 immunohistochemistry in differentiating MDS-EB-E from AEL.