一种新的复发性特异性隐匿易位，t(5;14)(q35;q32)，与T急性淋巴细胞白血病中Hox11L2基因的表达相关。
A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia.
作者信息
Bernard O A, Busson-LeConiat M, Ballerini P, Mauchauffé M, Della Valle V, Monni R, Nguyen Khac F, Mercher T, Penard-Lacronique V, Pasturaud P, Gressin L, Heilig R, Daniel M T, Lessard M, Berger R
机构信息
U434 INSERM-CEPH and SD401 No. 434 CNRS, Paris, France.
出版信息
Leukemia. 2001 Oct;15(10):1495-504. doi: 10.1038/sj.leu.2402249.
FISH identified a cryptic t(5;14)(q35;q32) in T acute lymphoblastic leukemia (ALL), whereas it was not observed in B ALL samples. This translocation is present in five out of 23 (22%) children and adolescents with T ALL tested. RanBP17, a gene coding for a member of the importin beta protein family, and Hox11Like2, an orphan homeobox gene were mapped close to the chromosome 5 breakpoints and CTIP2, which is highly expressed during normal T cell differentiation, was localized in the vicinity of the chromosome 14 breakpoints. The Hox11L2 gene was found to be transcriptionally activated as a result of the translocation, probably under the influence of CTIP2 transcriptional regulation elements. These data establish the t(5;14)(q35;q32) as a major abnormality, and Hox11 family member activation as an important pathway in T ALL leukemogenesis.
荧光原位杂交（FISH）在T急性淋巴细胞白血病（ALL）中发现了隐匿性t(5;14)(q35;q32)，而在B-ALL样本中未观察到。在所检测的23名儿童和青少年T-ALL患者中，有5名（22%）存在这种易位。RanBP17是一种编码输入蛋白β蛋白家族成员的基因，Hox11Like2是一种孤儿同源框基因，它们被定位在靠近5号染色体断点的位置，而在正常T细胞分化过程中高表达的CTIP2则定位在14号染色体断点附近。发现Hox11L2基因因易位而转录激活，可能受CTIP2转录调控元件的影响。这些数据证实t(5;14)(q35;q32)是主要异常，且Hox11家族成员激活是T-ALL白血病发生的重要途径。
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