Commentary
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
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* Corresponding author: Maria LM Silva mlmacedosilva@hotmail.com
1 Department of Cytogenetic, The National Center for Bone Marrow Transplantation (CEMO-INCa), National Cancer Institute (INCa), Rio de Janeiro, RJ, Brazil
2 Department of Experimental Medicine, National Cancer Institute (INCa), Rio de Janeiro, Brazil
3 Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA
4 Institute of Human Genetics and Anthropology, Jena, Germany
5 Pediatric Oncohematology Center, Hospital Oswaldo Cruz, Pernambuco University, Recife, Brazil
6 Martagão Gesteira Institute of Pediatrics and Child Development, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil
Molecular Cytogenetics 2009, 2:7 doi:10.1186/1755-8166-2-7
Published: 19 February 2009Abstract
Background
Children 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.
Results
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.
Conclusion
Our 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.