A myeloid disorder that occurs in childhood and is characterized by persistent cytopenia, dysplastic changes in at least two hematopoietic lineages or in 10% or more of cells in one hematopoietic lineage, less than 5% blasts in bone marrow, and less than 2% blasts in peripheral blood, absence of bone marrow fibrosis, and absence of history of prior cytotoxic chemotherapy or radiation therapy. In a subset of cases, somatic mutations or cytogenetic abnormalities can be identified. Other cases are the result of pre-existing disorders with germline mutations, including Fanconi anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita.
class Information
The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. Most cases are associated with a normal karyotype, however, when abnormal, monosomy 7 is the most frequently seen cytogenetic abnormality.
C82596
- GDC
- NICHD
9985/3
Refractory_Cytopenia_of_Childhood
- 9985/3
- Refractory cytopenia of childhood
Malignant
Refractory Cytopenia of Childhood
Neoplastic Process
C2826323
class Relations
- (Pediatric and/or Germline Mutation-Associated Myeloid DisordersandChildhood Hematopoietic and Lymphoid Cell NeoplasmandDisease_Has_FindingsomeCytopeniaandDisease_Has_FindingsomeMyeloblasts Under 2 Percent of Peripheral Blood White CellsandDisease_Has_FindingsomeMyeloblasts Under 5 Percent of Bone Marrow Nucleated CellsandDisease_Has_FindingsomeBone Marrow Dysplasia PresentandDisease_May_Have_Associated_DiseasesomeDyskeratosis CongenitaandDisease_May_Have_Associated_DiseasesomeShwachman-Diamond SyndromeandDisease_May_Have_Associated_DiseasesomeFanconi AnemiaandDisease_Has_Associated_DiseasesomeChildhood Myelodysplastic Syndrome with Low BlastsandDisease_Excludes_FindingsomeBone Marrow FibrosisandDisease_May_Have_Molecular_AbnormalitysomeGermline VariationandDisease_May_Have_Molecular_AbnormalitysomeSomatic Variation)