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t(6;11)(q27;q23) KMT2A/MLLT4

Written1997-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1015
 
  t(6;11)(q27;q23) G- banding - Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap Cytogenetics at theWaisman Center (top and middle ), and Jean-Luc Lai (below)

Clinics and Pathology

Disease AML
Phenotype / cell stem origin M4, M5 mostly; T-cell ALL at times; therapy related AL
Epidemiology still poorly known; found in children and young adults; male predominance
Clinics frequent infections; organomegaly; blood data: moderate WBC
Treatment BMT is indicated
Prognosis very poor (as in other 11q23 rearrangements); rare remission; short survival

Cytogenetics

Cytogenetics Morphological may be missinterpreted as a del(11q), as chromosome 6 involvempent may be overlooked
Cytogenetics Molecular ... therefore, FISH may be needed
Additional anomalies are present in most cases; +8 in particular; +3; +19; +21

Genes involved and Proteins

Gene Name MLLT4
Location 6q27
Protein contains a GLGF motif; widely expressed; cytoplasmic localisation; role in signal transduction
Gene Name KMT2A
Location 11q23
Protein 431 KDa; contains two DNA binding motifs (a AT hook and Zinc fingers), and a DNA methyl transferase motif; wide expression; nuclear localisation; transcriptional regulatory factor

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-3'AF6
  
Fusion Protein
Description about 1400 NH2-term amino acids (with the AT hook and DNA binding motifs) from MLL and most of AF6, starting at amino acid 26
  

To be noted

having a glance at 11q23 rearrangements, gives an overview of related diseases

Bibliography

Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation.
Prasad R, Gu Y, Alder H, Nakamura T, Canaani O, Saito H, Huebner K, Gale RP, Nowell PC, Kuriyama K
Cancer research. 1993 ; 53 (23) : 5624-5628.
PMID 8242616
 
Unique clinical features and prognostic significance of the translocation (6;11) in acute leukemia.
Welborn JL, Jenks HM, Hagemeijer A
Cancer genetics and cytogenetics. 1993 ; 65 (2) : 125-129.
PMID 8453597
 

Citation

This paper should be referenced as such :
Huret, JL
t(6;11)(q27;q23)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):87-88.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0611ID1015.html


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

Genes AFDN KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(6;11)(q27;q23) KMT2A/MLLT4

External links

KMT2A (11q23.3) MLLT4 (6q27)

KMT2A (11q23.3) MLLT4 (6q27)

Mitelman databaset(6;11)(q27;q23) [Case List]    t(6;11)(q27;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9807/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9813/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/MLLT4 KMT2A (11q23.3) MLLT4 (6q27)   [fusion1806]   [fusion1807]   [fusion1808]   [fusion1810]   [fusion1811]   [fusion1812]   [fusion1826]   [fusion2009]   [fusion2010]   [fusion2012]   [fusion2013]   [fusion2014]  
TICdbKMT2A/MLLT4  KMT2A (11q23.3) MLLT4 (6q27)
 
Disease databaset(6;11)(q27;q23) KMT2A/MLLT4
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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