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t(9;12)(q22;p12) 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)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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

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
  

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
 

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.org/Anomalies/t0912q22p12ID1226.html


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;p12) ETV6/SYK

External links

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

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

Mitelman databaset(9;12)(q22;p12) [Case List]    t(9;12)(q22;p12) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [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)
 
Disease databaset(9;12)(q22;p12) ETV6/SYK
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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