Download Leukaemia Section t(12;22)(p13;q11-12) 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(12;22)(p13;q11-12)
Jacqueline Van den Akker, Jean-Loup Huret
Laboratoire De Cytogenetique, Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75571 Paris,
Cedex 12, France (JVDA);
Genetics, Department of Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021
Poitiers, France (JLH)
Published in Atlas Database: October 1997
Online version is available at: http://AtlasGeneticsOncology.org/Anomalies/t1222.html
DOI: 10.4267/2042/32063
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
G- banding - Courtesy Melanie Zenger and Claudia Haferlach.
Clinics and pathology
Genes involved and Proteins
Disease
ETV6
Myeloid lineage (ANLL, MDS)
Phenotype / cell stem origin
M4 ANLL often (6/11); M7 ANLL, other ANLL;
RAEB evolving towards ANLL; ‘atypical CML’; may
occur secondary to genotoxic exposure.
Epidemiology
Yet poorly known; median age: 22 yrs (range 8-60;
n=11 cases herein reviewed); male predominance so far
(8/3).
Prognosis
Yet uncertain: survival range 0 mths - 6 yrs, median 2
yrs, n=9.
Location: 12p13
DNA / RNA
9 exons; alternate splicing.
Protein
Contains a Helix-Loop-Helix and ETS DNA binding
domains; wide expression; nuclear localisation; ETSrelated transcription factor.
MN1
Location: 22q11
DNA / RNA
Alternate splicing.
Protein
Glutamine and prolin rich protein; widely expressed;
transcriptional regulator.
Cytogenetics
Results of the chromosomal
anomaly
Cytogenetics, morphological
Easily detected, especially with R-banding.
Additional anomalies
Hybrid gene
+8 in half cases; various (e.g. del(5q)); sole anomaly in
3/11.
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
Description
Variable breakpoints in ETV6.
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t(12;22)(p13;q11-12)
Van den Akker J, Huret JL
Fusion protein
References
Description
N term- MN1-ETV6 -C term, with most of MN1,
including the glutamine/proline rich domain, fused to
the DNA binding of ETV6; the reciprocal ETV6/MN1
may or may not be expressed.
Expression localisation
Nuclear protein.
Oncogenesis
May act as an altered transcription factor.
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
Buijs A, Sherr S, van Baal S, van Bezouw S, van der Plas D,
Geurts van Kessel A, Riegman P, Lekanne Deprez R,
Zwarthoff E, Hagemeijer A, et al. Translocation
(12;22)(p13;q11) in myeloproliferative disorders results in
fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on
22q11. Oncogene 1995 Apr 20;10(8):1511-9.
This article should be referenced as such:
Van den Akker J, Huret JL. t(12;22)(p13;q11-12). Atlas Genet
Cytogenet Oncol Haematol.1997;1(2):81-82.
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