Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Written2002-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1226

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


Additional anomalies complex karyotype

Genes involved and Proteins

Gene NameSYK (spleen tyrosine kinase)
Location 9q22.2
Protein contains SH2 domains and a protein kinase domain; non-receptor type protein-tyrosine kinase; role in signaling pathways
Gene NameETV6 (ets variant 6)
Location 12p13.2
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

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.


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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):135-135.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes ETV6 SYK

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;12)(q22;p13) ETV6/SYK

External links

ETV6 (12p13.2) SYK (9q22.2)

ETV6 (12p13.2) SYK (9q22.2)

Mitelman databaset(9;12)(q22;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseETV6/SYK [MCList]  ETV6 (12p13.2) SYK (9q22.2)
TICdbETV6/SYK  ETV6 (12p13.2) SYK (9q22.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Jul 12 19:46:17 CEST 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us