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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Mini Review t(11;19)(q23;p13.1) Jean-Loup Huret Genetics, Department of Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France Published in Atlas Database: December 1997 Online version is available at: http://AtlasGeneticsOncology.org/Anomalies/t1119ELL.html DOI: 10.4267/2042/32073 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 1997 Atlas of Genetics and Cytogenetics in Oncology and Haematology 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). t(11;19)(q23;p13.1); G-banding (left) and R banding (right)(top: - Editor; below: - Courtesy Christiane Charrin). Clinics and pathology Cytogenetics Disease Cytogenetics, morphological 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!). Can be seen with R-banding: chromosome 11 appears enlarged, chromosome 19 shortened (11q+ and 19p-); will be missed with G-banding. Atlas Genet Cytogenet Oncol Haematol. 1997;1(2) Cytogenetics, molecular Therefore, FISH may be needed. Additional anomalies None at diagnosis in 2/3 cases; +8. Genes involved and Proteins 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. 102 t(11;19)(q23;p13.1) Huret JL LAM5B ; Karyotype : 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. ELL To be noted Location: 19p13.1 Protein Contains a Lysin rich domain (basic motif); nuclear localisation; transcription factor (RNA polymerase elongation factor). 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 Rbanding, involves ENL, and can be found in ALL, biphenotypic leukaemias, and ANLL. Results of the chromosomal anomaly Hybrid gene Description 5’ MLL - 3’ ELL. References Huret JL, Brizard A, Slater R, Charrin C, Bertheas MF, Guilhot F, Hählen K, Kroes W, van Leeuwen E, Schoot EV, et al. Cytogenetic heterogeneity in t(11;19) acute leukemia: clinical, hematological and cytogenetic analyses of 48 patients — updated published cases and 16 new observations. Leukemia 1993 Feb;7(2):152-60. (Review). Fusion protein Description AT hook and DNA methyltransferase from MLL fused to most of ELL. Expression localisation Nuclear localisation. Oncogenesis Potential transcription factor. Mitani K, Kanda Y, Ogawa S, Tanaka T, Inazawa J, Yazaki Y, Hirai H. Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation. Blood 1995 Apr 15;85(8):2017-24. This article should be referenced as such: Huret JL. t(11;19)(q23;p13.1). Atlas Genet Cytogenet Oncol Haematol.1997;1(2):102-103. Atlas Genet Cytogenet Oncol Haematol. 1997;1(2) 103