Download Leukaemia Section t(11;19)(q23;p13.1) Atlas of Genetics and Cytogenetics in Oncology and Haematology

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