ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia
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 transloca...
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| Format: | Article |
| Language: | English |
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Wiley
2009-01-01
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| Series: | Advances in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2009/924301 |
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| author | Abir Gmidène Hatem Elghezal Hlima Sennana Yosra Ben Youssef Balkiss Meddeb Moez Elloumi Abderrahim Khlif Ali Saad |
| author_facet | Abir Gmidène Hatem Elghezal Hlima Sennana Yosra Ben Youssef Balkiss Meddeb Moez Elloumi Abderrahim Khlif Ali Saad |
| author_sort | Abir Gmidène |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-05646d84e6c84e1fb51ae403e123b25b |
| institution | Kabale University |
| issn | 1687-9104 1687-9112 |
| language | English |
| publishDate | 2009-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Advances in Hematology |
| spelling | doaj-art-05646d84e6c84e1fb51ae403e123b25b2025-02-03T05:47:26ZengWileyAdvances in Hematology1687-91041687-91122009-01-01200910.1155/2009/924301924301ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic LeukemiaAbir Gmidène0Hatem Elghezal1Hlima Sennana2Yosra Ben Youssef3Balkiss Meddeb4Moez Elloumi5Abderrahim Khlif6Ali Saad7Laboratoire de Cytogénétique et de Biologie de la Reproduction, CHU Farhat Hached, Sousse 4000, TunisiaLaboratoire de Cytogénétique et de Biologie de la Reproduction, CHU Farhat Hached, Sousse 4000, TunisiaLaboratoire de Cytogénétique et de Biologie de la Reproduction, CHU Farhat Hached, Sousse 4000, TunisiaService d'Hématologie, CHU Farhat Hached, Sousse 4000, TunisiaService d'Hématologie, CHU Aziza Othmana, Tunis 1008, TunisiaService d'Hématologie, CHU Hédi Chaker, Sfax 3029, TunisiaService d'Hématologie, CHU Farhat Hached, Sousse 4000, TunisiaLaboratoire de Cytogénétique et de Biologie de la Reproduction, CHU Farhat Hached, Sousse 4000, TunisiaIn 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.http://dx.doi.org/10.1155/2009/924301 |
| spellingShingle | Abir Gmidène Hatem Elghezal Hlima Sennana Yosra Ben Youssef Balkiss Meddeb Moez Elloumi Abderrahim Khlif Ali Saad ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia Advances in Hematology |
| title | ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia |
| title_full | ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia |
| title_fullStr | ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia |
| title_full_unstemmed | ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia |
| title_short | ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia |
| title_sort | etv6 runx1 rearrangement in tunisian pediatric b lineage acute lymphoblastic leukemia |
| url | http://dx.doi.org/10.1155/2009/924301 |
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