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t(4;21)(q31;q22)

Clinics and Pathology

Disease T-cell acute lymphoblastic leukemia (T-ALL)
Epidemiology only one case to date, a 12 yr old male patient
Prognosis unknown

Cytogenetics

Cytogenetics Morphological a del(7q) was also present in the same clone

Genes involved and Proteins

Note The gene in 4q31 is yet unknown, and, because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner
Gene Name AML1
Location 21q22
Dna / Rna transcription is from telomere to centromere
Protein contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes

External links

Other databaset(4;21)(q31;q22) Mitelman database (CGAP - NCBI)
Other databaset(4;21)(q31;q22) 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

Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.
Mathew S, Shurtleff SA, Raimondi SC
Genes, chromosomes & cancer. 2001 ; 32 (2) : 188-193.
PMID 11550288
 
A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G
Cancer genetics and cytogenetics. 2002 ; 135 (1) : 96-100.
PMID 12072207
 

Contributor(s)

Written02-2003Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(4;21)(q31;q22). Atlas Genet Cytogenet Oncol Haematol. February 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/t0421q31q22ID1262.html

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indexed on : Mon Aug 11 21:20:09 2008


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