A familial SAMD9 variant present in pediatric myelodysplastic syndrome.
Mahvish Qureshi RahimApril RahrigKathleen OverholtErin ConboyMagdalena CzaderAmanda June SarafPublished in: Cold Spring Harbor molecular case studies (2023)
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.
Keyphrases
- stem cells
- acute myeloid leukemia
- healthcare
- bone marrow
- squamous cell carcinoma
- dna repair
- quality improvement
- intensive care unit
- risk assessment
- current status
- affordable care act
- mesenchymal stem cells
- cell therapy
- health insurance
- rectal cancer
- extracorporeal membrane oxygenation
- pain management
- acute respiratory distress syndrome
- hematopoietic stem cell