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4例唐氏综合征合并急性巨核细胞白血病患儿中导致1q部分三体的1号染色体不平衡异常。

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

作者信息

Silva Maria Luiza Macedo, Pombo-de-Oliveira Maria do Socorro, Raimondi Susana C, Mkrtchyan Hasmik, Abdelhay Eliana, de Figueiredo Amanda Faria, de Souza Mariana Tavares, Garcia Daniela Ribeiro Ney, de Ventura Eliane Maria Soares, de Sousa Adriana Martins, Liehr Thomas

机构信息

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

出版信息

Mol Cytogenet. 2009 Feb 19;2:7. doi: 10.1186/1755-8166-2-7.

DOI:10.1186/1755-8166-2-7
PMID:19228396
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2653040/
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.

摘要

背景

唐氏综合征（DS）患儿患儿童急性白血病的风险增加，尤其是急性巨核细胞白血病（AMKL），也称为急性髓系白血病（AML）M7型。本文报道了4例此类恶性肿瘤患儿，此前尚未见报道。

结果

所有病例经GTG显带均鉴定出涉及1号染色体的不平衡易位。通过分子细胞遗传学方法对这些病例进行了更详细的特征分析。进一步的分子分析显示，4例中有3例在位于Xp11.23的GATA结合蛋白1（珠蛋白转录因子1）的第2外显子中存在突变。

结论

我们的结果证实，1号染色体异常在DS相关的AMKL中很常见。该染色体区域是否包含参与造血恶性转化的基因仍有待确定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d475/2653040/959241376743/1755-8166-2-7-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d475/2653040/6c7ca0e3437f/1755-8166-2-7-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d475/2653040/959241376743/1755-8166-2-7-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d475/2653040/6c7ca0e3437f/1755-8166-2-7-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d475/2653040/959241376743/1755-8166-2-7-2.jpg

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