Mahvish Q. Rahim1,2, April Rahrig1,2, Kathleen Overholt1,2, Erin Conboy2,3, Magdalena Czader4 and Amanda June Saraf1,2 1Pediatric Hematology Oncology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA; 2Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA; 3Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA; 4Department of Pathology and Laboratory Medicine/Indiana University Healthy Pathology Laboratory, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA Corresponding author: Mahvishq786gmail.com

Myelodysplastic 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.

Received November 14, 2022. Accepted March 1, 2023.

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