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A familial SAMD9 variant present in pediatric myelodysplastic syndrome.

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.

SUBMITTER: Rahim MQ

PROVIDER: S-EPMC10240840 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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A familial SAMD9 variant present in pediatric myelodysplastic syndrome.

Rahim Mahvish Q MQ Rahrig April A Overholt Kathleen K Conboy Erin E Czader Magdalena M Saraf Amanda June AJ

Cold Spring Harbor molecular case studies 20230401 2

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 chemother ...[more]

PMID: 37160314

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