Download Leukaemia Section t(9;12)(q22;p12) 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
Short Communication
t(9;12)(q22;p12)
Jean-Loup Huret
Genetics, Dept Medical Information, UMR 8125 CNRS, University of Poitiers, CHU Poitiers Hospital, F86021 Poitiers, France (JLH)
Published in Atlas Database: February 2002
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0912q22p12ID1226.html
DOI: 10.4267/2042/37851
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2002 Atlas of Genetics and Cytogenetics in Oncology and Haematology
ETV6
Clinics and pathology
Location
12p13
Protein
Contains a Helix-Loop-Helix and ETS DNA binding
domains; wide expression; nuclear localisation; ETSrelated transcription factor.
Disease
Myelodysplastic syndrome3
Epidemiology
Only one case to date3
Clinics
Result of the chromosomal
anomaly
A 36 yr old female patient3
Cytology
Eosinophilia.
Hybrid gene
Evolution
Progressed to overt leukemia with megakaryocytic
blasts.
Description
5' ETV6 - 3' SYK; the counterpart SYK-ETV6 is also
expressed.
Cytogenetics
Fusion protein
Description
N term ETV6 exons 1 to 5 (with the Helix-Loop-Helix
domain), fused to the C term SYK, containing the
protein kinase domain.
Oncogenesis
ETV6-SYK is constituvely tyrosine phosphorylated.
Additional anomalies
Complex karyotype
Genes involved and proteins
SYK
References
Location
9q22
Protein
Contains SH2 domains and a protein kinase domain;
non-receptor type protein-tyrosine kinase; role in
signaling pathways.
Kuno Y, Abe A, Emi N, Iida M, Yokozawa T, Towatari M,
Tanimoto M, Saito H. Constitutive kinase activation of the TELSyk fusion gene in myelodysplastic syndrome with
t(9;12)(q22;p12). Blood. 2001 Feb 15;97(4):1050-5
This article should be referenced as such:
Huret JL. t(9;12)(q22;p12). Atlas Genet Cytogenet Oncol
Haematol. 2002; 6(2):133.
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(2)
133