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

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
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)

1. Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1226

2. 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

3. Cytogenetics

Additional anomalies complex karyotype

4. 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

5. 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
  

6. 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.

7. 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
 

8. Citation

This paper should be referenced as such :
Huret, JL
t(9;12)(q22;p12)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):135-135.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t0912q22p12ID1226.html


9. Translocations implicated (Data extracted from papers in the Atlas)

 t(9;12)(q22;p13) ETV6/SYK

10. External links

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

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

Mitelman databaset(9;12)(q22;p13) [Case List]    t(9;12)(q22;p13) [Transloc-MCList] ETV6/SYK [Fusion-MCList]
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 : Wed Nov 28 16:19:01 CET 2018

For comments and suggestions or contributions, please contact us atlasgeneticsoncology@usal.es.