A familial SAMD9 variant present in pediatric myelodysplastic syndrome.
Cold Spring Harb Mol Case Stud
; 9(2)2023 04.
Article
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Myelodysplastic Syndromes
/
Chromosome Deletion
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Female
/
Humans
Language:
En
Journal:
Cold Spring Harb Mol Case Stud
Year:
2023
Type:
Article