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Abstract

The clinical and diagnostic landscape of hematologic disorders such as Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML) is complex and multifaceted, with particular challenges arising in the identification and differentiation of related conditions like aplastic anemia and hypoplastic MDS.1 MDS, a heterogeneous group of clonal marrow disorders, is typified by dysplasia and ineffective hematopoiesis, which often culminate in cytopenias. A subset of MDS patients may experience leukemic transformation, marked by the proliferation of undifferentiated blasts, ultimately progressing to AML, a malignancy characterized by rapid growth and accumulation of these cells.2 Aplastic anemia shares the clinical hallmark of pancytopenia with MDS but lacks the clonal dysplastic features. Moreover, the overlap between aplastic anemia and hypoplastic MDS—a subtype of MDS with a paucity of marrow cells—complicates the diagnostic process, as both present with marrow failure and may require distinct therapeutic approaches.3 Deciphering these nuances is vital, as the transformation of MDS to AML, and the potential misclassification of hypoplastic MDS as aplastic anemia, carry significant prognostic and treatment implications for affected individuals.

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