t(9;12)(q22;p12)

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

Cytogenetics

Additional anomalies

complex karyotype

Genes involved and Proteins

Gene Name	SYK
Location	9q22
Protein	contains SH2 domains and a protein kinase domain; non-receptor type protein-tyrosine kinase; role in signaling pathways

Gene Name	ETV6
Location	12p13
Protein	contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor

Result of the chromosomal anomaly

Hybrid gene

Description	5' ETV6 - 3' SYK; the counterpart SYK-ETV6 is also expressed

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

External links

Other database	t(9;12)(q22;p12)	Mitelman database (CGAP - NCBI)
Other database	t(9;12)(q22;p12)	CancerChromosomes (NCBI)

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.

Bibliography

Constitutive kinase activation of the TEL-Syk fusion gene in myelodysplastic syndrome with t(9;12)(q22;p12).

Kuno Y, Abe A, Emi N, Iida M, Yokozawa T, Towatari M, Tanimoto M, Saito H

Blood. 2001 ; 97 (4) : 1050-1055.

PMID 11159536

Contributor(s)

Written	02-2002	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . t(9;12)(q22;p12). Atlas Genet Cytogenet Oncol Haematol. February 2002 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0912q22p12ID1226.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon May 12 18:12:46 2008

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