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t(20;21)(q11;q22)

Clinics and Pathology

Disease Acute myeloid leukaemia; blast crisis (of myeloid type) of chronic myelogenous leukaemia
Epidemiology Four cases available: 4 male patients aged 44, 57, 67, and 72 (yrs).

Cytogenetics

Additional anomalies No additional anomaly in one case, monosomy 5 and major karyotypic anomalies in one case, t(9;22)(q34;q11) in the two remaining cases.

Genes involved and Proteins

Note RUNX1 was found involved in the translocation in the two cases where it was studied; the partner is unknown.
Gene Name RUNX1
Location 21q22
Protein RUNX1, also called AML1 or CBFA2, is a transcription factor, critical regulator of hematopoietic-cell development, involved in many de novo and treatment related leukaemias.

External links

Other databaset(20;21)(q11;q22) Mitelman database (CGAP - NCBI)
Other databaset(20;21)(q11;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

Detection of clonal karyotypic abnormalities in most patients with acute nonlymphocytic leukemia examined using short-term culture techniques.
Misawa S, Hogge DE, Oguma N, Wiernik PH, Testa JR.
Cancer Genet Cytogenet. 1986 Jul;22(3):239-51.
PMID 3708555
 
Location of breakpoints within the major breakpoint cluster region (bcr) in 33 patients with bcr rearrangement-positive chronic myeloid leukemia (CML) with complex or absent Philadelphia chromosomes.
Dubé I, Dixon J, Beckett T, Grossman A, Weinstein M, Benn P, McKeithan T, Norman C, Pinkerton P.
Genes Chromosomes Cancer. 1989 Sep;1(1):106-11.
PMID 2487142
 
Spectral karyotyping (SKY) refinement of a complex karyotype with t(20;21) in a Ph-positive CML patient submitted to peripheral blood stem cell transplantation.
Calabrese G, Fantasia D, Franch PG, Morizio E, Stuppia L, Gatta V, Olioso P, Mingarelli R, Spadano A, Palka G.
Bone Marrow Transplant. 2000 Nov;26(10):1125-7.
PMID 11108316
 
Jeandidier E, Dastugue N, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Herens C, Michaux L, Verellen-Dumoulin C, Talmant P, Cornillet-Lefebvre P, Luquet I, Charrin C, Barin C, Collonge-Rame MA, Pérot C, Van den Akker J, Grégoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pagès MP, Cabrol C, Terré C, Berger R; Groupe Français de Cytogénétique Hématologique (GFCH).
Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique.
Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11.
PMID 16616106
 

Contributor(s)

Written03-2008Jean-Loup Huret
Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Citation

This paper should be referenced as such :
Huret JL . t(20;21)(q11;q22). Atlas Genet Cytogenet Oncol Haematol. March 2008 .
URL : http://AtlasGeneticsOncology.org/Genes/t2021q11q22ID1307.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Sep 24 21:07:39 2008


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