| Entity | t(2;11)(q11;q23) . --> MLL-LAF4 |
| Note | MLL fusion partner at chromosome 2 in infant ALL |
| Disease | The three cases reported to date were all infant-ALL with proB phenotype |
| Prognosis | Prognosis is poor, although based on only three cases. |
| Cytogenetics | The three reported cases harboured different rearrangements involving chromosomes 2 and 11: t(2;11)(q11;q23), t(2;11)(p15;p14), and ins(11;2)(q23;q11.2q11.2). |
| Abnormal Protein | The MLL-LAF4 fusion protein includes the transactivation domain of LAF4 that is part of the AF4/LAF4/FMR2 homology domain. |
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| Coding sequence of LAF4 compared to AF4 and site of fusion. Schematic representation of MLL, LAF4, AF4, and the putative MLL-LAF4 fusion protein. Domains in MLL are shaded: MT, DNA methyltransferase homology region; TRX, Drosophila trithorax homology. The percentage of amino acid homology between corresponding regions of LAF4 and AF4 is indicated: NHD, N-terminal homology domain; ALF, AF4/LAF4/FMR2 homology domain; TAD, transactivation domain; NLS, nuclear localization sequence; CHD, C-terminal homology domain. Arrows indicate the fusion sites with MLL. The breakpoint in LAF4 corresponds to one of the known breakpoints in AF4. |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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