t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia.: A collaborative study of the Groupe Francais de Cytogenetique Hematologique (GFCH)
t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia.: A collaborative study of the Groupe Francais de Cytogenetique Hematologique (GFCH)
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DOI：
10.1038/sj.leu.2403061
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发表时间：
2003-09-01
期刊：
影响因子：
11.4
通讯作者：
Bernard, OA
中科院分区：
文献类型：
--
作者：
Berger, R;Dastugue, N;Bernard, OA
为了准确估计HOX 11 L2表达的发生率，并确定相关的细胞遗传学特征，在T细胞急性淋巴细胞白血病（T-ALL）中，法国细胞遗传学血液学研究组（GFCH）对儿童和成人患者进行了回顾性研究。共纳入364例患者（211例小于或等于15岁的儿童和153例成人），67例（18.5%）[ 47例儿童（22.4%）和20例成人（13.1%）]显示携带t（5; 14）q35; q32）易位或表达HOX 11 L2基因或两者兼而有之。大多数常见血液学参数在阳性和阴性人群中没有显示出显著差异，而CD 1a +/CD 10+和胞浆CD 3+的发生率在阳性儿童中显著高于阴性儿童。常规细胞遗传学检查阳性的63例患者中，32例核型正常，其余31例为克隆性染色体异常，不包括典型的T-ALL特异性易位。在223例患者中，通过荧光原位杂交在6例变异或替代（三向易位或14 q32以外的细胞遗传学伴侣）易位中确定RANBP 17/HOX 11 L2位点的参与。我们的研究结果还表明，HOX 11 L2的表达基本上是5 q35重排的结果，但与另一个确定的T-ALL特异性复发性遗传异常，如SIL-TAL融合或HOX 11表达无关。
To accurately estimate the incidence of HOX11L2 expression, and determine the associated cytogenetic features, in T-cell acute lymphoblastic leukemia (T-ALL), the Groupe Francais de Cytogenetique Hematologique (GFCH) carried out a retrospective study of both childhood and adult patients. In total, 364 patients were included ( 211 children less than or equal to15 years and 153 adults), and 67 ( 18.5%) [ 47 children ( 22.4%) and 20 adults (13.1%)] were shown to either harbor the t(5; 14) q35; q32) translocation or express the HOX11L2 gene or both. Most of the common hematological parameters did not show significant differences within positive and negative populations, whereas the incidence of CD1a+/CD10+ and cytoplasmic CD3+ patients was significantly higher in positive than in negative children. Out of the 63 positive patients investigated by conventional cytogenetics, 32 exhibited normal karyotype, whereas the others 31 showed clonal chromosome abnormalities, which did not include classical T-ALL specific translocations. Involvement of the RANBP17/HOX11L2 locus was ascertained by fluorescence in situ hybridization in six variant or alternative (three-way translocation or cytogenetic partner other than 14q32) translocations out of the 223 patients. Our results also show that HOX11L2 expression essentially occurs as a result of a 5q35 rearrangement, but is not associated with another identified T-ALL specific recurrent genetic abnormality, such as SIL-TAL fusion or HOX11 expression.