We recently reported on the genomic landscape of pediatric primary MDS and identified germline mutations in sterile alpha motif (SAM) domain-9 (SAMD9) and its paralog, SAMD9-like (SAMD9L), in 17% of pediatric MDS patients [2], and similar findings have been reported by others [2, 3]. The gene discussed is SAMD9; the disease is myelodysplastic syndrome.