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

• Published in: Molecular cytogenetics Vol. 2; no. 1; p. 7
• Main Authors: Silva, Maria Luiza Macedo, Pombo-de-Oliveira, Maria do Socorro, Raimondi, Susana C, Mkrtchyan, Hasmik, Abdelhay, Eliana, de Figueiredo, Amanda Faria, de Souza, Mariana Tavares, Garcia, Daniela Ribeiro Ney, de Ventura, Eliane Maria Soares, de Sousa, Adriana Martins, Liehr, Thomas
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 19-02-2009; BioMed Central; BMC
• Subjects: Demographic aspects; Down syndrome; Gene mutations; Genetic aspects; Genetic transcription; Brazil
• ISSN: 1755-8166; 1755-8166
• DOI: 10.1186/1755-8166-2-7

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.