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


CONCLUSIONS
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.
Silva
Maria Luiza Macedo
ML
Department of Cytogenetic, The National Center for Bone Marrow Transplantation (CEMO-INCa), National Cancer Institute (INCa), Rio de Janeiro, RJ, Brazil. mlmacedosilva@hotmail.com.
Pombo-de-Oliveira
Maria do Socorro
MS
Raimondi
Susana C
SC
Mkrtchyan
Hasmik
H
Abdelhay
Eliana
E
de Figueiredo
Amanda Faria
AF
de Souza
Mariana Tavares
MT
Garcia
Daniela Ribeiro Ney
DR
de Ventura
Eliane Maria Soares
EM
de Sousa
Adriana Martins
AM
Liehr
Thomas
T