| Written | 2005-08 | Anne RM von Bergh |
| Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho | 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged |
| ICD-Morpho | 9811/3 B lymphoblastic leukaemia/lymphoma, NOS |
| ICD-Morpho | 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged |
| Atlas_Id | 1196 |
| 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). |
| Genes involved and Proteins |
| Gene Name | KMT2A (myeloid/lymphoid or mixed lineage leukemia) |
| Location | 11q23.3 |
| 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 | AFF3 (lymphoid nuclear protein related to AF4) |
| Location | 2q11.2 |
| 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. |
| 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 |
| 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 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| von Bergh, ARM |
| t(2;11)(q11;q23) |
| Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):12-13. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0211q11q23ID1196.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(2;11)(q11;q23) KMT2A/AFF3 | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Nov 28 16:18:00 CET 2018 |
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