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t(20;21)(q11;q22) RUNX1/?

Written2008-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1307

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).


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 NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
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.

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.


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 (GFCH).
Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11.
PMID 16616106
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
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
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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(3):234-234.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(20;21)(q11;q22) RUNX1/?

External links

Mitelman databaset(20;21)(q11;q22) [Case List]    t(20;21)(q11;q22) [Transloc-MCList] RUNX1/? [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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