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

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• 作者：Maria Luiza Macedo Silva (1)
  Maria do Socorro Pombo-de-Oliveira (2)
  Susana C Raimondi (3)
  Hasmik Mkrtchyan (4)
  Eliana Abdelhay (1)
  Amanda Faria de Figueiredo (1)
  Mariana Tavares de Souza (1)
  Daniela Ribeiro Ney Garcia (1)
  Eliane Maria Soares de Ventura (5)
  Adriana Martins de Sousa (6)
  Thomas Liehr (4)
  
• 刊名：Molecular Cytogenetics
• 出版年：2009
• 出版时间：December 2009
• 年：2009
• 卷：2
• 期：1
• 全文大小：1181KB
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• 作者单位：Maria Luiza Macedo Silva (1)
  Maria do Socorro Pombo-de-Oliveira (2)
  Susana C Raimondi (3)
  Hasmik Mkrtchyan (4)
  Eliana Abdelhay (1)
  Amanda Faria de Figueiredo (1)
  Mariana Tavares de Souza (1)
  Daniela Ribeiro Ney Garcia (1)
  Eliane Maria Soares de Ventura (5)
  Adriana Martins de Sousa (6)
  Thomas Liehr (4)
  
  1. Department of Cytogenetic, The National Center for Bone Marrow Transplantation (CEMO-INCa), National Cancer Institute (INCa), Rio de Janeiro, RJ, Brazil
  2. Department of Experimental Medicine, National Cancer Institute (INCa), Rio de Janeiro, Brazil
  3. Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA
  4. Institute of Human Genetics and Anthropology, Jena, Germany
  5. Pediatric Oncohematology Center, Hospital Oswaldo Cruz, Pernambuco University, Recife, Brazil
  6. Martag茫o Gesteira Institute of Pediatrics and Child Development, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil
  
• ISSN：1755-8166

文摘

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.