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t(7;21)(p15;q22) RUNX1::?

Written2008-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1526

Clinics and Pathology

Disease De novo acute myeloid leukemia (AML), type M2 with monocytosis or M4 in the case tested for RUNX1. Other cases presented with a chronic myelomonocytic leukemia evolving towards a M4-AML which may be therapy related, and with a M3-AML (promyelocytic leukemia) with t(15;17).
Epidemiology Only three cases to date, 2 male and 1 female patients, aged 46, 70, ? (Koo et al., 1998; Jeandidier et al., 2006).


Additional anomalies Sole anomaly in one case, presence of an unrelated clone in another. The t(7;21) accompanied the classical t(15;17)(q22;q11) in the M3-AML.

Genes involved and Proteins

Note The partner of RUNX1 is unknown.
Gene NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
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.

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.


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).
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, Perot C, Van den Akker J, Gregoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pages MP, Cabrol C, Terre C, Berger R; Groupe Français de Cytogénétique Hématologique (GFCH).
Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11.
PMID 16616106
Cytogenetic and fluorescence in situ hybridization analyses of hematologic malignancies in Korea.
Koo SH, Kwon GC, Chun HJ, Park JW.
Cancer Genet Cytogenet. 1998 Feb;101(1):1-6.
PMID 9460492


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):677-677.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(7;21)(p15;q22) RUNX1/?

External links

Mitelman databaset(7;21)(p15;q22)
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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