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Abstract
BackgroundChildren with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7. Here four yet unreported infants with such malignancies are reported.ResultsAn unbalanced translocation involving chromosome 1 was identified by GTG banding in all cases. These were characterized in more detail by molecular cytogenetic approaches. Additional molecular analysis revealed in three of the four cases mutations in exon 2 of the GATA binding protein 1 (globin transcription factor 1), located in Xp11.23.ConclusionOur results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL. Whether this chromosomal region contains gene(s) involved in hematopoietic malignant transformation remains to be determined.
Highlights
Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) called acute myeloid leukemia (AML) type M7
Molecular Cytogenetics 2009, 2:7 http://www.molecularcytogenetics.org/content/2/1/7 majority of leukemia diagnosed below the age of 2 years is acute megakaryoblastic leukemia (AMKL) or acute myeloid leukemia (AML) type M7, according to the FrenchAmerican-British classification
TMD and AMKL are associated with trisomy 21 and mutations in GATA1
Summary
An unbalanced translocation involving chromosome 1 was identified by GTG banding in all cases. These were characterized in more detail by molecular cytogenetic approaches. Additional molecular analysis revealed in three of the four cases mutations in exon 2 of the GATA binding protein 1 (globin transcription factor 1), located in Xp11.23
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