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Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRbeta-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique.

Barbara Cauwelier 1 Hélène Cavé 2 Carine Gervais 3 Michel Lessard 3 Carole Barin 4 Christine Perot 5 Jacqueline van den Akker 5 Francine Mugneret 6 Christiane Charrin 7 Marie Pierre Pagès 7 Marie-José Grégoire 8 Philippe Jonveaux 8 Marina Lafage-Pochitaloff 9 Marie Joelle Mozzicconacci 9 Christine Terré 10 Isabelle Luquet 11 Pascale Cornillet-Lefebvre 11 Bernard Laurence 12 Ghislaine Plessis 13 Christine Lefebvre 14 Dominique Leroux 14 Hélène Antoine-Poirel 15 Carlos Graux 16 Laurent Mauvieux 3 Pierre Heimann 17 Céline Chalas 2 Emmanuel Clappier 4 Bruno Verhasselt 18 Yves Benoit 19 Barbara Moerloose 19 Bruce Poppe 1 Nadine van Roy 1 Kim De Keersmaecker 20 Jan Cools 20 François Sigaux 16 Roland Berger 21 Jean Soulier 16 Anne Hagemeijer 22 Anne Paepe 1 Nicole Dastugue 23 Franck Speleman 1, *
Abstract : Recently, we and others described a new chromosomal rearrangement, that is, inv(7)(p15q34) and t(7;7)(p15;q34) involving the T-cell receptor beta (TCRbeta) (7q34) and the HOXA gene locus (7p15) in 5% of T-cell acute lymphoblastic leukemia (T-ALL) patients leading to transcriptional activation of especially HOXA10. To further address the clinical, immunophenotypical and molecular genetic findings of this chromosomal aberration, we studied 330 additional T-ALLs. This revealed TCRbeta-HOXA rearrangements in five additional patients, which brings the total to 14 cases in 424 patients (3.3%). Real-time quantitative PCR analysis for HOXA10 gene expression was performed in 170 T-ALL patients and detected HOXA10 overexpression in 25.2% of cases including all the cases with a TCRbeta-HOXA rearrangement (8.2%). In contrast, expression of the short HOXA10 transcript, HOXA10b, was almost exclusively found in the TCRbeta-HOXA rearranged cases, suggesting a specific role for the HOXA10b short transcript in TCRbeta-HOXA-mediated oncogenesis. Other molecular and/or cytogenetic aberrations frequently found in subtypes of T-ALL (SIL-TAL1, CALM-AF10, HOX11, HOX11L2) were not detected in the TCRbeta-HOXA rearranged cases except for deletion 9p21 and NOTCH1 activating mutations, which were present in 64 and 67%, respectively. In conclusion, this study defines TCRbeta-HOXA rearranged T-ALLs as a distinct cytogenetic subgroup by clinical, immunophenotypical and molecular genetic characteristics.
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Submitted on : Monday, January 5, 2009 - 2:42:00 PM
Last modification on : Friday, November 6, 2020 - 4:05:48 AM

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Barbara Cauwelier, Hélène Cavé, Carine Gervais, Michel Lessard, Carole Barin, et al.. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRbeta-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique.. Leukemia, Nature Publishing Group: Open Access Hybrid Model Option B, 2007, 21 (1), pp.121-8. ⟨10.1038/sj.leu.2404410⟩. ⟨inserm-00348517⟩

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