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t(2;21)(p11;q22)

Clinics and Pathology

Disease M1 acute non lymhocytic leukemia (ANLL)
Etiology no known prior exposure
Epidemiology only one case to date, a 78 yr old male patient
Prognosis death occurred during induction therapy

Cytogenetics

Cytogenetics Morphological sole anomaly in this patient

Genes involved and Proteins

Note The gene in 2p11 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(2;21)(p11;q22) Mitelman database (CGAP - NCBI)
Other databaset(2;21)(p11;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

Identification of two new translocations that disrupt the AML1 gene.
Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J, Roherty S, Srinivasiah J, Varella-Garcia M
Cancer genetics and cytogenetics. 2000 ; 122 (2) : 141-143.
PMID 11106827
 
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
 

Contributor(s)

Written02-2003Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(2;21)(p11;q22). Atlas Genet Cytogenet Oncol Haematol. February 2003 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0221p11q22ID1261.html

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