Molecular Cytogenetics (Feb 2009)

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

  • Garcia Daniela,
  • de Souza Mariana,
  • de Figueiredo Amanda,
  • Abdelhay Eliana,
  • Mkrtchyan Hasmik,
  • Raimondi Susana C,
  • do Socorro Pombo-de-Oliveira Maria,
  • Silva Maria,
  • de Ventura Eliane,
  • de Sousa Adriana,
  • Liehr Thomas

DOI
https://doi.org/10.1186/1755-8166-2-7
Journal volume & issue
Vol. 2, no. 1
p. 7

Abstract

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Abstract 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.