一例伴有四向t(8;11;16;21)的急性髓系白血病病例中的亚显微缺失。

Submicroscopic deletions in an acute myeloid leukemia case with a four-way t(8;11;16;21).

作者信息

Albano Francesco, Specchia Giorgina, Anelli Luisa, Liso Arcangelo, Zagaria Antonella, Santoro Alessandra, Mirto Salvatore, Liso Vincenzo, Rocchi Mariano

机构信息

Department of Hematology, University of Bari, Policlinico, Piazza G. Cesare 11, 70124 Bari, Italy.

出版信息

Leuk Res. 2005 Jul;29(7):855-8. doi: 10.1016/j.leukres.2004.12.018. Epub 2005 Mar 2.

DOI:10.1016/j.leukres.2004.12.018

PMID:15927680

Abstract

The t(8;21)(q22;q22) rearrangement is observed in about 15% of acute myelocitic leukemia (AML) cases, while variant t(8;21) translocations are detected in 6-10% of AML patients positive for the 5'RUNX1/3'CBFA2T1 fusion gene. We report a detailed molecular cytogenetic analysis of a four-way variant t(8;11;16;21)(q22;q14;q12;q22) performed by fluorescence in situ hybridization with specific BAC and PAC clones. The study demonstrated the loss of several megabases belonging to chromosomes 11 and 16 whereas no deletion was detected on der(21). These findings suggest that a precise breakpoint characterization could identify submicroscopic genomic deletions whose meaning remains to be defined.

摘要

约15%的急性髓细胞白血病（AML）病例中可观察到t(8;21)(q22;q22)重排，而在5'RUNX1/3'CBFA2T1融合基因呈阳性的AML患者中，6-10%可检测到变异型t(8;21)易位。我们报告了一项通过使用特定BAC和PAC克隆进行荧光原位杂交对四向变异型t(8;11;16;21)(q22;q14;q12;q22)进行的详细分子细胞遗传学分析。该研究显示属于11号和16号染色体的几个兆碱基缺失，而在der(21)上未检测到缺失。这些发现表明精确的断点特征分析可以识别其意义尚待确定的亚微观基因组缺失。