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

doi:10.1186/1755-8166-2-7

Molecular Cytogenetics

Volume 2

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Silva ML
do Socorro Pombo-de-Oliveira M
Raimondi SC
Mkrtchyan H
Abdelhay E
de Figueiredo AF
de Souza MT
Garcia DR
de Ventura EM
de Sousa AM
Liehr T

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Silva ML
do Socorro Pombo-de-Oliveira M
Raimondi SC
Mkrtchyan H
Abdelhay E
de Figueiredo AF
de Souza MT
Garcia DR
de Ventura EM
de Sousa AM
Liehr T
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Commentary

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

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 and Thomas Liehr⁴

¹Department of Cytogenetic, The National Center for Bone Marrow Transplantation (CEMO-INCa), National Cancer Institute (INCa), Rio de Janeiro, RJ, Brazil

²Department of Experimental Medicine, National Cancer Institute (INCa), Rio de Janeiro, Brazil

³Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, 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, RJ, Brazil

author email corresponding author email

Molecular Cytogenetics 2009, 2:7doi:10.1186/1755-8166-2-7


Published:	19 February 2009

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.