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Advances in Hematology
Volume 2009 (2009), Article ID 924301, 5 pages
Research Article

ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia

1Laboratoire de Cytogénétique et de Biologie de la Reproduction, CHU Farhat Hached, Sousse 4000, Tunisia
2Service d'Hématologie, CHU Farhat Hached, Sousse 4000, Tunisia
3Service d'Hématologie, CHU Aziza Othmana, Tunis 1008, Tunisia
4Service d'Hématologie, CHU Hédi Chaker, Sfax 3029, Tunisia

Received 11 June 2009; Revised 1 October 2009; Accepted 14 November 2009

Academic Editor: Maher Albitar

Copyright © 2009 Abir Gmidène et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


In this study, Forty-one out of fifty-seven Tunisian children with B-lineage acute lymphoblastic leukemia (B-ALL), and without cytogenetically detectable recurrent abnormalities at the time of the diagnosis, were evaluated by fluorescence in situ hybridization (FISH) for the t(12;21). This translocation leads ETV6-RUNX1 (previously TEL-AML1) fusion gene. 16 patients (28%) had ETV6-RUNX1 rearrangement. In addition to this rearrangement, two cases showed a loss of the normal ETV6 allele, and three others showed an extra signal of the RUNX1 gene. Seven patients without ETV6-RUNX1 rearrangement showed extra signals of the RUNX1 gene. One out of the 7 patients was also associated with a t(3;12) identified by FISH. This is the first Tunisian study in which we report the incidence of t(12;21) among childhood B-lineage ALL and in which we have found multiple copies of RUNX1. Finally, our findings confirm that additional or secondary genetic changes are commonly encountered in pediatric B-lineage ALL with ETV6-RUNX1 gene fusion which is envisaged to play a pivotal role in disease progression.