| Written | 1997-12 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 | 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged |
| ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| ICD-Morpho | 9920/3 Therapy-related myeloid neoplasms |
| Atlas_Id | 1029 |
| 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) KMT2A/ELL G- banding (left and center) and R- banding (right). G- banding frist and second row - Courtesy H. Norback, Eric B. Johnson, Sara Morrison-Delap UW Cytogenetic Services; third row. Courtesy Adriana Zamecnikova; and R- banding top: Jean Loup Huret; second row - Courtesy Christiane Charrin); Top right: In situ hybridization with a 19 whole chromosome paint probe (spectrum green ) and a KMT2A (MLL) dual color break apart rearrangement probe; the der(19) is WCP19-spectrum green+ and 3'-MLL spectrum orange+ - Courtesy Pascaline Talmant; Bottom: Fluorescence in situ hybridization with the Vysis LSI MLL (KMT2A) break apart probe (Abbott Molecular, US) showing translocation of MLL sequences to der(19) chromosome (red signal) (A). Hybridization with Kreatech KMT2A/MLLT1 probe showing 2 green and 2 red signals on normal metaphase (left) and translocation of MLL sequences to der(19) with relocation of 19p13.3 sequences distal to residual MLL gene (right) (B). Courtesy Adriana Zamecnikova. | |
| Clinics and Pathology |
| Disease | AML |
| 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 |
| Additional anomalies | none at diagnosis in 2/3 cases; +8 |
| Genes involved and Proteins |
| Gene Name | KMT2A (myeloid/lymphoid or mixed lineage leukemia) |
| Location | 11q23.3 |
| 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 (eleven nineteen lysin rich leukemia gene) |
| Location | 19p13.11 |
| 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 |
| 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 AML, 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 AML; 2- you may also have a glance at 11q23 rearrangements, which gives an overview of related diseases sharing 11q23 involvement |
| Bibliography |
| 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, Hählen 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 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(11;19)(q23;p13.3) |
| Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):104-105. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1119ELLID1029.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | ELL | KMT2A |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(11;19)(q23;p13.1) KMT2A/ELL | |
| 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 : Fri Oct 8 16:37:18 CEST 2021 |
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