Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(11;19)(q23;p13.1)
| 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;p13.3) |
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| t(11;19)(q23;p13.1); G- banding (left) and R- banding (right) (top: - Editor; below: - Courtesy Christiane Charrin) | |
| Clinics and Pathology |
| Disease | ANLL |
| Phenotype / cell stem origin | M4/M5 most often; M1/M2 at times; therapy related AL; however, clonal rearrangements of IgH gene have been found, demonstrating a biphenotypic nature |
| Epidemiology | children and, most often, adults (7 days to 83 yrs); congenital cases are rare, in contrast with the t(11;19)(q23;p13.3) leukaemia; balanced sex ratio |
| Clinics | organomegaly in half cases; CNS involvement in some cases |
| Treatment | BMT is indicated |
| Prognosis | very poor (median: 6 mths!) |
| Cytogenetics |
| Cytogenetics Morphological | can be seen with R-banding: chromosome 11 appears enlarged, chromosome 19 shortened (11q+ and 19p-); will be missed with G-banding |
| Cytogenetics Molecular | ... therefore, FISH may be needed |
 | |
| LAM5B ; caryotype : 46,XX,t(11;19)(q23;p13.1); in situ hybridization with a 19 whole chromosome paint probe (spectrum green ) and a MLL dual color break apart rearrangement probe; the der(19) is WCP19-spectrum green+ and 3’-MLL spectrum orange+ - Courtesy Pascaline Talmant | |
| Additional anomalies | none at diagnosis in 2/3 cases; +8 |
| 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 | ELL |
| Location | 19p13.1 |
| Protein | contains a Lysin rich domain (basic motif); nuclear localisation; transcription factor (RNA polymerase elongation factor) |
| Result of the chromosomal anomaly |
| Description | 5' MLL - 3' ELL |
| Description | AT hook and DNA methyltransferase from MLL fused to most of ELL |
| Expression Localisation | nuclear localisation |
| Oncogenesis | potential transcription factor |
| External links |
| Other database | t(11;19)(q23;p13.1) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;19)(q23;p13.1) | 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 19p13.1, is found only in ANLL, involves ELL, is diagnosed with R-banding (11q+ and 19p-) and missed with G-banding, the translocation with 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; 2- you may also have a glance at 11q23 rearrangements, which gives an overview of related diseases sharing 11q23 involvement |
| Bibliography |
| Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation. |
| Mitani K, Kanda Y, Ogawa S, Tanaka T, Inazawa J, Yazaki Y, Hirai H |
| Blood. 1995 ; 85 (8) : 2017-2024. |
| PMID 7718874 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(11;19)(q23;p13.1). Atlas Genet Cytogenet Oncol Haematol. December 1997 . URL : http://AtlasGeneticsOncology.org/Genes/t1119ELL.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:03:20 2008 |
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