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8号染色体三体作为急性髓系白血病和骨髓增生异常综合征中的唯一染色体畸变。

Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes.

作者信息

Paulsson K, Johansson B

机构信息

Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden.

出版信息

Pathol Biol (Paris). 2007 Feb;55(1):37-48. doi: 10.1016/j.patbio.2006.04.007. Epub 2006 May 11.

DOI:10.1016/j.patbio.2006.04.007
PMID:16697122
Abstract

Trisomy 8 as the sole abnormality is the most common karyotypic finding in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), occurring in approximately 5% and 10% of the cytogenetically abnormal cases, respectively. However, despite the high frequency of +8, much remains to be elucidated as regards its epidemiology, etiology, clinical impact, association with other chromosomal abnormalities, cell of origin, and functional and pathogenetic consequences. Here, we summarize and review these various aspects of trisomy 8, focusing on AMLs and MDS harboring this abnormality as a single change.

摘要

8号染色体三体作为唯一异常是急性髓系白血病(AML)和骨髓增生异常综合征(MDS)中最常见的核型发现,分别出现在约5%和10%的细胞遗传学异常病例中。然而,尽管+8频率很高,但关于其流行病学、病因、临床影响、与其他染色体异常的关联、起源细胞以及功能和致病后果等方面仍有许多有待阐明。在此,我们总结并综述8号染色体三体的这些不同方面,重点关注存在这种单一异常的AML和MDS。

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