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t(11;17)(q23;q12-21) KMT2A/MMLT6

Written2005-08Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

(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 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1027
Note not to be confused with the t(11;17)(q23;q12-21) involving MLL and LASP1 or the t(11;17)(q23;q12-21) involving MLL and ACACA
  t(11;17)(q23;q12) G-banding - Courtesy Cytogenetics Laboratory of the CCRI, Children's Cancer Research Institute, Vienna.

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Epidemiology not sufficient cases to date


Note so far three MLL fusion partners, namely LASP1, AF17 (alias MLLT6), and ACACA have been identified in 17q12-21; these translocations cannot be distinguished cytogenetically and the accurate detection of the specific fusion gene requires RT-PCR or refined FISH analysis
Cytogenetics Molecular chromosomes (arrows).
  FISH using a combination of the MLL-specific PACs 217a21 and 167k13 (green signals) and the AF17-specific BAC RP11-25H10 (red signals) results in two fusion signals on the der(11) and the der(17)
Additional anomalies +8

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 37 exons, spanning over 100 kb; transcription in a centromeric to telomeric direction; 13 -15 kb mRNA; coding sequence 11.9 kb
Protein 431 kDa; contains two DNA binding motifs (an AT hook, and Zinc fingers), a DNA methyl transferase motif, and a bromodomain; transcriptional regulatory factor; nuclear localization
Gene NameMLLT6 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6)
Location 17q12
Note previously LASP1 and AF17 (alias MLLT6) were mapped to 17q21, but according to the most recent genome assembly built by the Genome Bioinformatics Group of the University of California Santa Cruz and recent FISH data both genes are localized in 17q12 and proximal to RARA
Dna / Rna encompasses 19.97 kb of genomic DNA; 4914 bp mRNA; 20 exons, 3282 bp coding sequence
Protein 1023 amino acids, 112 kDa; MLLT6 (alias AF17), MLLT10 (alias AF10), and BRPF1 (alias BR140) belong to a small evolutionary highly conserved family of putative nuclear transcription factors, which contain amino-terminal PHD fingers, a highly conserved octapeptide, and a classical leucine zipper dimerization motif; nuclear localization

Result of the chromosomal anomaly

Hybrid gene
Transcript 5' MLL - 3' AF17
Fusion Protein
  Schematic representation of MLL, AF17 (alias MLLT6), and the putative MLL-AF17 fusion protein. MT, methyltransferase domain; Zn finger, Zinc finger domain; SET-domain; PHD, Zinc finger PHD-type; OM, octapeptide motif; LZ, leucine-zipper dimerization motif.
Description the AT-hook DNA-binding domain and the methyltransferase motif including the CXXC zinc-finger (Zn) domain of MLL are fused to the highly conserved octapeptide (OM) and the leucine-zipper (LZ) dimerization motif of AF17 (alias MLLT6).

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 diagnostic biochip for the comprehensive analysis of MLL translocations in acute leukemia.
Maroc N, Morel A, Beillard E, De La Chapelle AL, Fund X, Mozziconacci MJ, Dupont M, Cayuela JM, Gabert J, Koki A, Fert V, Hermitte F
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (9) : 1522-1530.
PMID 15322560
Acute myelocytic leukemia with t(11;17)(q23;q12-q21) involves a fusion of MLL and AF17.
Moore SD, Strehl S, Dal Cin P
Cancer genetics and cytogenetics. 2005 ; 157 (1) : 87-89.
PMID 15676155
Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia.
Prasad R, Leshkowitz D, Gu Y, Alder H, Nakamura T, Saito H, Huebner K, Berger R, Croce CM, Canaani E
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (17) : 8107-8111.
PMID 8058765
AML with 11q23/MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases.
Schoch C, Schnittger S, Klaus M, Kern W, Hiddemann W, Haferlach T
Blood. 2003 ; 102 (7) : 2395-2402.
PMID 12805060


This paper should be referenced as such :
Strehl, S
t(11;17)(q23;q12-21) MLL/AF17
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):25-27.
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(11;17)(q23;q12) KMT2A/MMLT6

External links

Mitelman databaset(11;17)(q23;q12) [Case List]    t(11;17)(q23;q12) [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 ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease databaset(11;17)(q23;q12-21) KMT2A/MMLT6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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