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t(9;21)(q34;q22) RUNX1 truncated

Written2008-02Jean-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 1483

Clinics and Pathology

Disease Acute myeloid leukaemia (AML)
Epidemiology Only one case to date
Clinics The patient was a 75 year old male patient with a myeloproliferative syndrome (MPS) in transformation to AML. The MPS was a 8p11 myeloproliferative syndrome (EMS)


Cytogenetics Morphological The karyotype also comprised a t(8;22)(p11;q11) with BCR/ FGFR fusion, responsible for the EMS

Genes involved and Proteins

Note RUNX1 was involved in the translocation. 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.
The exons 1-4 of RUNX1 were fused to repetitive sequences from chromosome 9, adding 70 amino acids to RUNX1 exon 4 encoding sequences, resulting in a truncated RUNX1.
The t(9;21)/RUNX1 involvement may be responsible for the transformation of the EMS.

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.


Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome.
Agerstam H, Lilljebjörn H, Lassen C, Swedin A, Richter J, Vandenberghe P, Johansson B, Fioretos T
Genes, chromosomes & cancer. 2007 ; 46 (7) : 635-643.
PMID 17394134
Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL.
Fioretos T, Panagopoulos I, Lassen C, Swedin A, Billström R, Isaksson M, Strömbeck B, Olofsson T, Mitelman F, Johansson B
Genes, chromosomes & cancer. 2001 ; 32 (4) : 302-310.
PMID 11746971


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):141-141.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;21)(q34;q22) RUNX1 truncated

External links

Mitelman databaset(9;21)(q34;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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