A familial SAMD9 variant present in pediatric myelodysplastic syndrome

Cold Spring Harb Mol Case Stud. 2023 May 9;9(2):a006256. doi: 10.1101/mcs.a006256. Print 2023 Apr.

Abstract

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.

Keywords: bone marrow hypocellularity; multiple lineage myelodysplasia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Deletion*
  • Female
  • Germ-Line Mutation
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics
  • Phenotype

Substances

  • Intracellular Signaling Peptides and Proteins
  • SAMD9 protein, human