Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(11;14)(p13;q11)
t(7;11)(q35;p13)
| Identity |
| Note | this t(11;14) must be not confused with the t(11;14)(p15;q11) associated with an immature immunophenotype (CD3-, CD4-, CD8-) and involving respectively RTBN1 gene and TRD locus. |
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| t(11;14)(p13;q11) G- banding (left) and R- banding (right) - Courtesy Jean-Luc Lai and Alain Vanderhaegen | |
| Clinics and Pathology |
| Disease | T-ALL |
| Epidemiology | 5-10% of childhood T-ALL |
| Cytogenetics |
| Additional anomalies | +17; to be noted that a Ph chromosome (m-BCR) has been found in one case of T-ALL |
| Variants | t(11;14)(p13;q11) and t(7;11)(q35;p13) are variant translocations of each other |
| Genes involved and Proteins |
| Gene Name | RBTN2 |
| Location | 11p13 |
| Protein | cystein-rich protein with two tandemly arranged zinc binding LIM-domain motifs: named Lom2; Lmo2 directly interacts with the basic-loop-helix protein Tal1/Scl and the GATA DNA protein Gata-1; central role in adult hematopoietic pathway regulation. |
| Gene Name | TRA/D or TRB |
| Location | 14q11 and 7q35 respectively |
| Result of the chromosomal anomaly |
| Description | chromosomal breakpoints occur 25 Kb upstream RBTN2 gene, in a presumed transcriptional start site, inducing truncation of the promoter/control region and leading to inappropriate Lmo2 level especially in T-cells (abnormal T-cell differentiation). |
| Oncogenesis | Lmo2 is activated after chromosomal translocation by association with either the TRA/D or the TRB. |
| External links |
| Other database | t(11;14)(p13;q11) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;14)(p13;q11) | CancerChromosomes (NCBI) | |
| Other database | t(7;11)(q35;p13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(7;11)(q35;p13) | CancerChromosomes (NCBI) |
| To be noted |
| CELL LINE with t(11;14)(p13;q11) : KOPT-K1; the breakpoints occur : - on chromosome 11 in an Alu-rich region, between two Alu sequences, 160 Kb-closed from RTBN2; - on chromosome 14 within Jd1; RTBN2 is highly expressed in KOPT-K1. |
| Bibliography |
| New chromosomal translocations correlate with specific immunophenotypes of childhood acute lymphoblastic leukemia. |
| Williams DL, Look AT, Melvin SL, Roberson PK, Dahl G, Flake T, Stass S |
| Cell. 1984 ; 36 (1) : 101-109. |
| PMID 6607116 |
| T-cell acute childhood lymphoblastic leukemia with chromosome 14 q 11 anomaly: a morphologic, immunologic, and cytogenetic analysis of 10 patients. |
| Lampert F, Harbott J, Ritterbach J, Ludwig WD, Fonatsch C, Schwamborn D, Stier B, Gnekow A, Gerein V, Stollmann B |
| Blut. 1988 ; 56 (3) : 117-123. |
| PMID 3258538 |
| Cytogenetics of childhood T-cell leukemia. |
| Raimondi SC, Behm FG, Roberson PK, Pui CH, Rivera GK, Murphy SB, Williams DL |
| Blood. 1988 ; 72 (5) : 1560-1566. |
| PMID 3263151 |
| The rhombotin family of cysteine-rich LIM-domain oncogenes: distinct members are involved in T-cell translocations to human chromosomes 11p15 and 11p13. |
| Boehm T, Foroni L, Kaneko Y, Perutz MF, Rabbitts TH |
| Proceedings of the National Academy of Sciences of the United States of America. 1991 ; 88 (10) : 4367-4371. |
| PMID 2034676 |
| Expression of rhombotin 2 in normal and leukaemic haemopoietic cells. |
| Dong WF, Billia F, Atkins HL, Iscove NN, Minden MD |
| British journal of haematology. 1996 ; 93 (2) : 280-286. |
| PMID 8639417 |
| The LIM-only protein Lmo2 is a bridging molecule assembling an erythroid, DNA-binding complex which includes the TAL1, E47, GATA-1 and Ldb1/NLI proteins. |
| Wadman IA, Osada H, Grˆºtz GG, Agulnick AD, Westphal H, Forster A, Rabbitts TH |
| The EMBO journal. 1997 ; 16 (11) : 3145-3157. |
| PMID 9214632 |
| Contributor(s) |
| Written | 09-1998 | Chrystèle Bilhou-Nabera |
| Citation |
| This paper should be referenced as such : |
| Bilhou-Nabera C . t(11;14)(p13;q11); t(7;11)(q35;p13). Atlas Genet Cytogenet Oncol Haematol. Septem
ber 1998 . URL : http://AtlasGeneticsOncology.org/Genes/t1114ID1070.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:07:18 2008 |
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