t(9;12)(q22;p13) ETV6/SYK

2002-02-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Myelodysplastic syndrome

Epidemiology

only one case to date

Clinics

a 36 yr old female patient

Cytology

eosinophilia

Evolution

progressed to overt leukemia with megakaryocytic blasts

Genes Involved and Proteins

Gene name
SYK (spleen tyrosine kinase)
Location
9q22.2
Protein description
contains SH2 domains and a protein kinase domain; non-receptor type protein-tyrosine kinase; role in signaling pathways
Gene name
ETV6 (ets variant 6)
Location
12p13.2
Protein description
contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor

Result of the Chromosomal Anomaly

Description

5 ETV6 - 3 SYK; the counterpart SYK-ETV6 is also expressedN 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

Bibliography

Pubmed IDLast YearTitleAuthors
111595362001Constitutive kinase activation of the TEL-Syk fusion gene in myelodysplastic syndrome with t(9;12)(q22;p12).Kuno Y et al

Summary

Fusion gene

ETV6/SYK ETV6 (12p13.2) SYK (9q22.2) M t(9;12)(q22;p13)|ETV6/SYK ETV6 (12p13.2) SYK (9q22.2) TIC

Citation

Jean-Loup Huret

t(9;12)(q22;p13) ETV6/SYK

Atlas Genet Cytogenet Oncol Haematol. 2002-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1226/t(9;12)(q22;p13)

External Links