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t(5;21)(q13;q22) RUNX1/?

Written2003-02Jean-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
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1174

Clinics and Pathology

Disease myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML)
Phenotype / cell stem origin 1 case of refractory anemia with excess of blastsin transformation (RAEB-t), 1 MDS evolving towards a M4-AML, 2 M2-AML, and 1 AML not otherwise specified
Epidemiology 5 cases to date; 3M/2F, aged 58 yr (median, range: 31-75)


Cytogenetics Morphological sole anomaly in 2 cases, complex karyotypes in 2 other cases.

Genes involved and Proteins

Note The gene in 5q13 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 NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
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

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.


Testicular infiltration in acute myeloid leukemia with complex karyotype including t(8;21).
Giagounidis AA, Hildebrandt B, Braunstein S, Aivado M, Germing U, Heinsch M, Aul C
Annals of hematology. 2002 ; 81 (2) : 115-118.
PMID 11907795
A new translocation, t(5;21)(q13;q22) in acute myelogenous leukemia.
Gogineni SK, da Costa M, Verma RS
Cancer genetics and cytogenetics. 1996 ; 88 (2) : 167-169.
PMID 8640729
Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.
Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T
Genes, chromosomes & cancer. 1999 ; 26 (4) : 336-345.
PMID 10534769
Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.
Mathew S, Head D, Rubnitz JE, Raimondi SC
Genes, chromosomes & cancer. 2000 ; 28 (2) : 227-232.
PMID 10825008
Chromosome pattern, occupation, and clinical features in patients with acute nonlymphocytic leukemia.
Mitelman F, Nilsson PG, Brandt L, Alimena G, Gastaldi R, Dallapiccola B
Cancer genetics and cytogenetics. 1981 ; 4 (3) : 197-214.
PMID 7317873
CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.
Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD
Blood. 1998 ; 92 (8) : 2879-2885.
PMID 9763573


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):115-115.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes RUNX1

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;21)(q13;q22) RUNX1/?

External links

Mitelman databaset(5;21)(q13;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [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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