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t(1;12)(p36;p13)

Clinics and Pathology

Disease Myeloid disorders: one chronic myelogenous leukemia with t(9;22) and one refractory anemiia with excee of blasts in transformation
Epidemiology only 2 cases so far: 1 male and 1 female patient, aged 50 and 66 yrs
Prognosis unknown so far

Genes involved and Proteins

Gene Name MDS2
Location 1p36
Dna / Rna 7 exons; alternate splicing
Gene Name ETV6
Location 12p13
Dna / Rna 9 exons; alternate splicing
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' MDS2; exons 1 and 2 of ETV6 are fused to exons 6 and 7 of MDS2; fusion is not in frame; the reciprocal fusion gene is not expressed
  
Fusion Protein
Description truncated ETV6 lacking the PTN domain and the DNA binding domain
  

External links

Other databaset(1;12)(p36;p13) Mitelman database (CGAP - NCBI)
Other databaset(1;12)(p36;p13) 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

Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia.
Vassallo J, Altemani AM, Cardinalli IA, Crespo AN, Lima CS, Eid KA, Souza CA
Pathology, research and practice. 1993 ; 189 (9) : 1084-1086.
PMID 8302728
 
A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.
Odero MD, Vizmanos JL, Romˆ°n JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ
Genes, chromosomes & cancer. 2002 ; 35 (1) : 11-19.
PMID 12203785
 

Contributor(s)

Written07-2003Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(1;12)(p36;p13). Atlas Genet Cytogenet Oncol Haematol. July 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/t0112p36p13ID1170.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:19:41 2008


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