Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations.

Journal article

Down syndrome (DS) children have a high frequency of acute megakaryoblastic leukemia (AMKL) in early childhood. At least 2 in utero genetic events are required, although not sufficient, for DS-AMKL: trisomy 21 (T21) and N-terminal-truncating GATA1 mutations. To investigate the role of T21 in DS-AMKL, we compared second trimester hemopoiesis in DS without GATA1 mutations to gestation-matched normal controls. In all DS fetal livers (FLs), but not marrows, megakaryocyte-erythroid progenitor freq...

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Authors: Tunstall-Pedoe, O; Roy, A; Karadimitris, A; de la Fuente, J; Fisk, N

• Publication status: Published
• Journal: Blood
• Volume: 112
• Issue: 12
• Pages: 4507-4511
• Publication date: 2008-12-01
• DOI: 10.1182/blood-2008-04-152967
• EISSN: 1528-0020
• ISSN: 0006-4971
• Language: English
• Keywords: Time Factors; Humans; Cell Count; Genetic Predisposition to Disease; Pregnancy Trimester, Second; Mutation; Congenital Abnormalities; Liver Diseases; Leukemia, Megakaryoblastic, Acute; Myeloid Progenitor Cells; Antigens, CD34; Down Syndrome; Female; Pregnancy; GATA1 Transcription Factor