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t(3;11)(p21;q23) KMT2A/NCKIPSD

Written2000-02Jean-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 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1165
  t(3;11)(p21;q23) G- banding - Courtesy Diane H. Norback, Eric B.Johnson, Sara Morrison-Delap UW Cytogenetic Services.

Clinics and Pathology

Disease treatment related acute myeloid leukemia (t-AML)
Phenotype / cell stem origin M5b AML
Epidemiology only one case; a female patient aged 23 yrs and treated 9 years ago for T-ALL
Prognosis unknown; likely to be poor, both as it carries a MLL rearrangements and as occurs in t-AML


Cytogenetics Morphological sole anormaly

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 13-15 kb mRNA
Protein 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation
Gene NameNCKIPSD (NCK interacting protein with SH3 domain)
Location 3p21.31

Result of the chromosomal anomaly

Hybrid gene
Description breakpoints of MLL between exons 9 and 10 and upstream of exon 1 of the AF3p21 gene
Fusion Protein
Description AT hooks and methyltransferase domains of MLL in the N-term fused to the proline-rich domain and nuclear localization signal of AF3p21

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.


A novel sh3 protein encoded by the AF3p21 gene is fused to MLL in a therapy-related leukemia with t(3; 11)(p21;q23).
Sano K, Hayakawa A, JinHua P
Blood. 1999 ; 94 (numero Suppl 1).


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):40-40.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(3;11)(p21;q23) KMT2A/NCKIPSD

External links

KMT2A (11q23.3) NCKIPSD (3p21.31)

KMT2A (11q23.3) NCKIPSD (3p21.31)

Mitelman databaset(3;11)(p21;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9813/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionKMT2A/NCKIPSD KMT2A (11q23.3) NCKIPSD (3p21.31)   [fusion1944]   [fusion1946]  
TICdbKMT2A/NCKIPSD  KMT2A (11q23.3) NCKIPSD (3p21.31)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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