| Clinics and Pathology |
| Disease | T cell acute lymphoblastic leukemia (ALL) |
| Phenotype / cell stem origin | cortical T cell leukemia (CD1a+,CD10+) |
| Epidemiology | frequent in T-cell ALL in children (in about 20% of childhood T-cell ALLs); less frequent in adult T-ALL. Not seen in B-cell ALL |
| Cytology | FAB nomenclature: L1 or L2 ALL |
| Prognosis | present data suggest that t(5;14)(q35;q32) is associated with poor outcome, but confirmatory data is necessary prior to conclude |
| Cytogenetics |
| Cytogenetics Morphological | Cryptic translocation (banded karyotype). Often apparently normal karyotype with banding techniques. |
| Cytogenetics Molecular | t(5;14)(q35;q32) can be detected with FISH techniques. Several probes may be used: chromosome painting, combination of painting probes and YAC, multicolor-FISH with adequate probes. The localization of the chromosomal breakpoint with BACs/PACs will be performed in a second step. |
| Additional anomalies | variable |
| Genes involved and Proteins |
| Note | The consequence of the translocation is the ectopic expression of the HOX11L2, gene normally located to 5q35, and normally not expressed in ALL without 5q rearrangement. The "deregulation" of HOX11L2 expression is thought to result from abnormal control of the gene by CTPI2, located to 14q32, as a consequence of the chromosomal rearrangement. The chromosome 5 breakpoint is usually located within the locus of another gene, RanBP17, often disrupted by the chromosomal rearrangement. The breakpoint on chromosome 5 is consequently distant from the gene abnormally expressed (HOX11L2). |
| Gene Name | HOX11L2 |
| Location | 5q35 |
| Protein | homeobox domain; belongs to HOX 11 family |
| Result of the chromosomal anomaly |
| Description | no fusion protein, but abnormal expression of HOX11L2 |
| Oncogenesis | HOX11L2 is transcriptionally activated, due to control by CITP2 regulatory sequences. |
| External links |
| Other database | t(5;14)(q35;q32) | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;14)(q35;q32) | CancerChromosomes (NCBI) |
| Bibliography |
| A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia. |
| Bernard OA, Busson-LeConiat M, Ballerini P, Mauchauffˆ© M, Della Valle V, Monni R, Nguyen Khac F, Mercher T, Penard-Lacronique V, Pasturaud P, Gressin L, Heilig R, Daniel MT, Lessard M, Berger R |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (10) : 1495-1504. |
| PMID 11587205 |
| Translocation t(5;14)(q35;q32) in three cases of childhood T cell acute lymphoblastic leukemia: a new recurring and cryptic abnormality. |
| Hˆ©lias C, Leymarie V, Entz-Werle N, Falkenrodt A, Eyer D, Costa JA, Cherif D, Lutz P, Lessard M |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (1) : 7-12. |
| PMID 11840257 |
| Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia. |
| Ferrando AA, Neuberg DS, Staunton J, Loh ML, Huard C, Raimondi SC, Behm FG, Pui CH, Downing JR, Gilliland DG, Lander ES, Golub TR, Look AT |
| Cancer cell. 2002 ; 1 (1) : 75-87. |
| PMID 12086890 |
| HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis. |
| Ballerini P, Blaise A, Busson-Le Coniat M, Su XY, Zucman-Rossi J, Adam M, van den Akker J, Perot C, Pellegrino B, Landman-Parker J, Douay L, Berger R, Bernard OA |
| Blood. 2002 ; 100 (3) : 991-997. |
| PMID 12130513 |
| Contributor(s) |
| Written | 02-2002 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(5;14)(q35;q32). Atlas Genet Cytogenet Oncol Haematol. February 2002 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0514q35q32ID1227.html |
| Berger R . t(5;14)(q35;q32). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Anomalies/t0514q35q32ID1227.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:25 2008 |
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