A familial SAMD9 variant present in pediatric myelodysplastic syndrome.
Cold Spring Harb Mol Case Stud
; 9(2)2023 04.
Article
em En
| MEDLINE
| ID: mdl-37160314
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
/
Deleção Cromossômica
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Female
/
Humans
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Ano de publicação:
2023
Tipo de documento:
Article