Berger R, Dastugue N, Busson M, Van Den Akker J, Pérot C, Ballerini P, Hagemeijer A, Michaux L, Charrin C, Pages M P, Mugneret F, Andrieux J, Talmant P, Hélias C, Mauvieux L, Lafage-Pochitaloff M, Mozziconacci M-J, Cornillet-Lefebvre P, Radford I, Asnafi V, Bilhou-Nabera C, Nguyen Khac F, Léonard C, Speleman F, Poppe B, Bastard C, Taviaux S, Quilichini B, Herens C, Grégoire M-J, Cavé H, Bernard O A
EMI 0210, Hôpital Necker, Paris, France.
Leukemia. 2003 Sep;17(9):1851-7. doi: 10.1038/sj.leu.2403061.
To accurately estimate the incidence of HOX11L2 expression, and determine the associated cytogenetic features, in T-cell acute lymphoblastic leukemia (T-ALL), the Groupe Français de Cytogénétique Hématologique (GFCH) carried out a retrospective study of both childhood and adult patients. In total, 364 patients were included (211 children </=15 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.
为准确估计T细胞急性淋巴细胞白血病（T-ALL）中HOX11L2表达的发生率，并确定相关的细胞遗传学特征，法国血液学细胞遗传学小组（GFCH）对儿童和成人患者进行了一项回顾性研究。总共纳入了364例患者（211例15岁及以下儿童和153例成人），其中67例（18.5%）[47例儿童（22.4%）和20例成人（13.1%）]被证明携带t(5;14)(q35;q32)易位、表达HOX11L2基因或两者兼具。大多数常见血液学参数在阳性和阴性人群中未显示出显著差异，而CD1a+/CD10+和胞质CD3+患者在阳性儿童中的发生率显著高于阴性儿童。在通过传统细胞遗传学研究的63例阳性患者中，32例核型正常，而其他31例显示克隆性染色体异常，其中不包括经典的T-ALL特异性易位。在223例患者中，通过荧光原位杂交确定了6例变异或替代（三向易位或14q32以外的细胞遗传学伙伴）易位中RANBP17/HOX11L2位点的参与情况。我们的结果还表明，HOX11L2表达主要是由于5q35重排所致，但与另一种已确定的T-ALL特异性复发性遗传异常无关，如SIL-TAL融合或HOX11表达。
