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

被引：6

作者：

Macedo Silva, Maria Luiza ^{[1
]}

Pombo-de-Oliveira, Maria do Socorro ^{[2
]}

Raimondi, Susana C. ^{[3
]}

Mkrtchyan, Hasmik ^{[4
]}

Abdelhay, Eliana ^{[1
]}

de Figueiredo, Amanda Faria ^{[1
]}

de Souza, Mariana Tavares ^{[1
]}

Ney Garcia, Daniela Ribeiro ^{[1
]}

Soares de Ventura, Eliane Maria ^{[5
]}

de Sousa, Adriana Martins ^{[6
]}

Liehr, Thomas ^{[4
]}

机构：

[1] Natl Canc Inst INCa, Natl Ctr Bone Marrow Transplantat CEMO INCa, Dept Cytogenet, Rio De Janeiro, RJ, Brazil

[2] Natl Canc Inst INCa, Dept Expt Med, Rio De Janeiro, RJ, Brazil

[3] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA

[4] Inst Human Genet & Anthropol, Jena, Germany

[5] Univ Fed Pernambuco, Hosp Oswaldo Cruz, Pediat Oncohematol Ctr, Recife, PE, Brazil

[6] Univ Fed Rio de Janeiro, Martagao Gesteira Inst Pediat & Child Dev, Rio De Janeiro, RJ, Brazil

来源：

MOLECULAR CYTOGENETICS | 2009年 / 2卷

关键词：

Acute Myeloid Leukemia; Down Syndrome; Acute Myeloid Leukemia Case; GATA1 Mutation; Childhood Acute Leukemia;

D O I：

10.1186/1755-8166-2-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：6

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