Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(11;19)(q23;p13.3)
| Identity |
| Note | two different translocations (and two clinical entities), both involving 11q23 with a common breakpoint in MLL, and 19p13 with different breakpoints are now identified: the above mentioned, and the t(11;19)(q23;p13.1) |
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| t(11;19)(q23;p13.3) G- banding – left: Courtesy Jean-Luc Lai; middle and right: Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services | |
| Clinics and Pathology |
| Disease | ALL, ANLL |
| Phenotype / cell stem origin | B-cell ALL: L1/L2 CD19+, CD10- most often; biphenotypic: CD19+ (B-cell) as well, but also with myeloid markers; ANLL: M4/M5 mainly; therapy related AL; T-cell ALL at times |
| Epidemiology | most cases are found in infants < 1 yr (congenital leukaemia), whatever the phenotype except in T-cell cases (children cases); such a feature is particularly stricking; most female cases exhibit a B-lineage or biphenotypic phenotype, most male cases are M4/M5 cases |
| Clinics | organomegaly, frequent CNS involvement (in B-cell/biphenotypic cases); blood data: high WBC |
| Treatment | BMT is indicated |
| Prognosis | very poor (median < 1 yr), except in the rare T-cell cases, who are, so far, long survivors.  . |
| Cytogenetics |
| Cytogenetics Morphological | can be seen with G-banding: chromosome 11 appears shortened, chromosome 19 enlarged (11q- and 19p+); will be missed with R-banding |
| Cytogenetics Molecular | ... therefore, FISH may be needed |
| Additional anomalies | none in most cases; +X may be found in male and female patients; +6, +8, +19 |
| Variants | three way complex t(11;19;Var) exist, as well as complex rearrangements and inversions, and are frequent); they demonstrated that the crucial event lies on der(11) |
| Genes involved and Proteins |
| Gene Name | MLL |
| Location | 11q23 |
| Dna / Rna | 21 exons, spanning over 100 kb; 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 | ENL |
| Location | 19p13.3 |
| Protein | serine/proline; contains a nuclear targeting sequence; wide expression; nuclear localisation; transcription activator |
| Result of the chromosomal anomaly |
| Description | 5' MLL - 3' ENL |
| Expression Localisation | AT hook and DNA methyltransferase from MLL fused to, most often, the nearly entire ENL |
| External links |
| Other database | t(11;19)(q23;p13.3) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;19)(q23;p13.3) | CancerChromosomes (NCBI) |
| To be noted |
| 1- shortly, both t(11;19): have a breakpoint in MLL in 11q23, a very poor prognosis, and may, in some cases be treatment related leukaemias; but, while the above described has a breakpoint in 19p13.3, can be seen with G-banding (11q- and 19p+) and missed with R-banding, involves ENL, and can be found in ALL, biphenotypic leukaemias, and ANLL, the translocation with a breakpoint in 19p13.1 involves ELL, is found with R-banding (11q+ and 19p-) and missed with G-banding, and only in ANLL; 2- you may also have a glance at 11q23 rearrangements, which gives an overview of related diseases sharing 11q23 involvement |
| Bibliography |
| Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. |
| Tkachuk DC, Kohler S, Cleary ML |
| Cell. 1992 ; 71 (4) : 691-700. |
| PMID 1423624 |
| Cytogenetic heterogeneity in t(11;19) acute leukemia: clinical, hematological and cytogenetic analyses of 48 patients--updated published cases and 16 new observations. |
| Huret JL, Brizard A, Slater R, Charrin C, Bertheas MF, Guilhot F, Hˆ§hlen K, Kroes W, van Leeuwen E, Schoot EV |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1993 ; 7 (2) : 152-160. |
| PMID 8426468 |
| Contributor(s) |
| Written | 12-1997 | Jean-Loup Huret |
| Updated | 12-1998 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| - . t(11;19)(q23;p13.3). Atlas Genet Cytogenet Oncol Haematol. December 1997 . URL : http://AtlasGeneticsOncology.org/Genes/t1119ENL.html |
| Huret JL . t(11;19)(q23;p13.3). Atlas Genet Cytogenet Oncol Haematol. December 1998 . URL : http://AtlasGeneticsOncology.org/Genes/t1119ENL.html |
| Huret JL . t(11;19)(q23;p13.3). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Genes/t1119ENL.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:03:21 2008 |
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