多种类型的重排作用于T细胞急性淋巴细胞白血病中的TLX3基因座。

Various types of rearrangements target TLX3 locus in T-cell acute lymphoblastic leukemia.

作者信息

Su Xin Ying, Busson Maryvonne, Della Valle Véronique, Ballerini Paola, Dastugue Nicole, Talmant Pascaline, Ferrando Adolfo A, Baudry-Bluteau Dominique, Romana Serge, Berger Roland, Bernard Olivier A

机构信息

INSERM E0210, IRNEM, Hôpital Necker, Paris, France.

出版信息

Genes Chromosomes Cancer. 2004 Nov;41(3):243-9. doi: 10.1002/gcc.20088.

DOI:10.1002/gcc.20088

PMID:15334547

Abstract

Most chromosomal translocations observed in T-cell acute lymphoblastic leukemia (T-ALL) often produce transcriptional activation of transcription factor oncogenes. Ectopic expression of the TLX3 (also known as HOX11L2) gene has been shown to be associated with a cryptic t(5;14)(q35;q32) translocation specific for a subtype of T-ALL. Here we report several examples of variant and alternative translocations resulting in expression of TLX3 in T-ALL, and we describe three of these translocations in detail. In particular, the CDK6 gene was rearranged in two t(5;7)(q35;q21) translocations. In two additional instances, fusion of the BCL11B (also known as CTIP2) and RANBP17/TLX3 loci were shown to result from subtle genomic insertion/deletion within these loci. This study further underscores that TLX3 expression in T-ALL is strongly associated with the presence of genomic rearrangements.

摘要

在T细胞急性淋巴细胞白血病（T-ALL）中观察到的大多数染色体易位通常会导致转录因子致癌基因的转录激活。TLX3（也称为HOX11L2）基因的异位表达已被证明与T-ALL一种亚型特有的隐匿性t(5;14)(q35;q32)易位有关。在此，我们报告了几例导致T-ALL中TLX3表达的变异和替代易位实例，并详细描述了其中三例易位。特别是，在两例t(5;7)(q35;q21)易位中，CDK6基因发生了重排。在另外两例中，BCL11B（也称为CTIP2）与RANBP17/TLX3基因座的融合被证明是由这些基因座内的细微基因组插入/缺失导致的。这项研究进一步强调，T-ALL中TLX3的表达与基因组重排的存在密切相关。