Rahim, Mahvish Q.Rahrig, AprilOverholt, KathleenConboy, ErinCzader, MagdalenaSaraf, Amanda June2024-01-182024-01-182023-05-09Rahim MQ, Rahrig A, Overholt K, Conboy E, Czader M, Saraf AJ. A familial SAMD9 variant present in pediatric myelodysplastic syndrome. Cold Spring Harb Mol Case Stud. 2023;9(2):a006256. Published 2023 May 9. doi:10.1101/mcs.a006256https://hdl.handle.net/1805/38063Myelodysplastic syndrome (MDS) is a rare pediatric diagnosis characterized by ineffective hematopoiesis with potential to evolve into acute myelogenous leukemia (AML). In this report, we describe a unique case of a 17-yr-old female with an aggressive course of MDS with excess blasts who was found to have monosomy 7 and a SAMD9 germline variant, which has not previously been associated with a MDS phenotype. This case of MDS was extremely rapidly progressing, showing resistance to chemotherapy and stem cell transplant, unfortunately resulting in patient death. It is imperative to further investigate this rare variant to aid in the future care of patients with this variant.en-USAttribution 4.0 InternationalBone marrow hypocellularityMultiple lineage myelodysplasiaChromosome deletionArticle