Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(2;11)(q11;q23)
| Clinics and Pathology |
| Disease | Acute lymplocytic leukemia (ALL) with proB phenotype |
| Epidemiology | Three cases reported to date, two infants and one two-year-old child |
| Prognosis | Both cases of infant ALL showed a poor survival, 2 and 9 months respectively. The third case, a two-year-old child, achieved complete remission. |
| Cytogenetics |
| Cytogenetics Molecular | The three reported cases carried different rearrangements involving chromosomes 2 and 11: t(2;11)(p15;p14), t(2;11)(q11;q23) and ins(11;2)(q23;q11.2q11.2). |
| Probes | LAF4 specific PACs: RP6-44B23 and RP6-226I23 |
| Genes involved and Proteins |
| Gene Name | MLL |
| Location | 11q23 |
| Dna / Rna | 13-15 kb mRNA |
| Protein | 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation |
| Gene Name | LAF4 |
| Location | 2q11-q12 |
| Note | AF4 and AF5q31, also known as MLL fusion partners, belong to the same gene family |
| Dna / Rna | 22 exons, transcript length: 3855 bp |
| Protein | LAF4 protein (Lymphoid nuclear protein related to AF4) 1226 amino acids; 133734 Da |
| Result of the chromosomal anomaly |
| Transcript | 5' MLL - 3' LAF4 |
 | |
| Schematic representation of MLL, LAF4, and the putative MLL-LAF4 fusion protein. MT, methyltransferase domain; TRX, Drosophila trithorax homology; NHD, N-terminal homology domain; TAD, transactivation domain; NLS, nuclear localization sequence; CHD, C-terminal homology domain. | |
| Description | The MLL-LAF4 fusion protein includes the transactivation domain of LAF4 that is part of the AF4/LAF4/FMR2 homology domain. |
| External links |
| Other database | t(2;11)(q11;q23) | Mitelman database (CGAP - NCBI) | |
| Other database | t(2;11)(q11;q23) | CancerChromosomes (NCBI) |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia. |
| von Bergh AR, Beverloo HB, Rombout P, van Wering ER, van Weel MH, Beverstock GC, Kluin PM, Slater RM, Schuuring E |
| Genes, chromosomes & cancer. 2002 ; 35 (1) : 92-96. |
| PMID 12203795 |
| Occurrence of an MLL/LAF4 fusion gene caused by the insertion ins(11;2)(q23;q11.2q11.2) in an infant with acute lymphoblastic leukemia. |
| Bruch J, Wilda M, Teigler-Schlegel A, Harbott J, Borkhardt A, Metzler M |
| Genes, chromosomes & cancer. 2003 ; 37 (1) : 106-109. |
| PMID 12661012 |
| Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23). |
| Hiwatari M, Taki T, Taketani T, Taniwaki M, Sugita K, Okuya M, Eguchi M, Ida K, Hayashi Y |
| Oncogene. 2003 ; 22 (18) : 2851-2855. |
| PMID 12743608 |
| LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias. |
| Ma C, Staudt LM |
| Blood. 1996 ; 87 (2) : 734-745. |
| PMID 8555498 |
| Contributor(s) |
| Written | 08-2005 | Anne RM von Bergh |
| Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands |
| Citation |
| This paper should be referenced as such : |
| von Bergh ARM . t(2;11)(q11;q23). Atlas Genet Cytogenet Oncol Haematol. August 2005 . URL : http://AtlasGeneticsOncology.org/Genes/t0211q11q23ID1196.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Jul 14 16:32:46 2008 |
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