Pediatric Myelodysplastic syndromes (pMDS) are characterized by cytopenia and the presence of dysplastic cells of the myeloid lineage. While bone marrow cellularity is often normal or increased, hematopoiesis is ineffective. In a subgroup of MDS known as hypoplastic MDS (h-MDS), bone marrow cellularity is significantly decreased. Genomic alterations can be found in the majority of MDS cases using standard clinical laboratory technologies, which are important for confirming clonal proliferation and for prognostic stratification, however, the presence of genomic alterations alone is not sufficient for diagnosing MDS. For instance, while a 20q deletion is commonly found in MDS, it can also occur in healthy individuals and in people with only mild anemia.^1-3 In addition, low-frequency point mutations, often less than 10%, are frequently observed in clonal hematopoiesis of indeterminate potential (CHIP).⁴ Pediatric MDS may be associated with germline mutations, such as mutations of GATA2, RUNX1, or SAMD9/SAMD9L.⁵