Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia

Molecular Cytogenetics - Tập 2 - Trang 1-6 - 2009
Maria Luiza Macedo Silva1, Maria do Socorro Pombo-de-Oliveira2, Susana C Raimondi3, Hasmik Mkrtchyan4, Eliana Abdelhay1, Amanda Faria de Figueiredo1, Mariana Tavares de Souza1, Daniela Ribeiro Ney Garcia1, Eliane Maria Soares de Ventura5, Adriana Martins de Sousa6, Thomas Liehr4
1Department of Cytogenetic, The National Center for Bone Marrow Transplantation (CEMO-INCa), National Cancer Institute (INCa), Rio de Janeiro, Brazil
2Department of Experimental Medicine, National Cancer Institute (INCa), Rio de Janeiro, Brazil
3Department of Pathology, St Jude Children’s Research Hospital, Memphis, USA
4Institute of Human Genetics and Anthropology, Jena, Germany
5Pediatric Oncohematology Center, Hospital Oswaldo Cruz, Pernambuco University, Recife, Brazil
6Martagão Gesteira Institute of Pediatrics and Child Development, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

Tóm tắt

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. 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. 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.

Tài liệu tham khảo