Title (COG AAML08B1) Biology Study of Transient Myeloproliferative Disorder (TMD) in Children with Down Syndrome (DS)
Principal Investigator Meghan Higman, MD PhD
Study Number 201911
Summary In this study, GATA1 mutations will be analyzed to determine their relationship to the TMD phenotype and to determine whether the presistence of a mutant GATA1 bearing clone can predict progression to AMkL. This study will correlate the relationship between the "historic" definitions of the TMD phenotype with advances in megakaryoblast biology and clinical predictors of outcome.
- Patient is < 90 days of age at diagnosis of TMD.
- Patient has a diagnosis of Transient Myeloproliferative Disorder (TMD). A diagnosis of Down Syndrome or Down Syndrome mosaicism. Patients may be enrolled on Study prior to cytogenetic or FISH confirmation of the diagnosis if the typical physical characteristics of Down syndrome are present. However confirmation of diagnosis must occur within 21 days of enrollment
- Non-erythroid and non-lymphoid blasts in the perpheral blood verified with a second sample.
- Institutional immunophenotype characterization is required for study enrollment
- Study enrollment must take place within 21 days following the diagnosis of TMD by a pediatric hematology/oncology specialist.