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t(11;17)(q23;q12-21) KMT2A/LASP1

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

(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 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1367
 
  t(11;17)(q23;q12-21) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.

Clinics and Pathology

Disease infant acute myeloid leukemia AML-M4
Epidemiology only one case described so far
Prognosis insufficient data; of note: the only patient described, remains in complete remission >8 years

Cytogenetics

Note so far three MLL fusion partners, namely LASP1 (in the t(11;17) herein described), MLLT6 (alias AF17) (in another t(11;17)(q23;q12-21), and ACACA (also in another t(11;17)(q23;q12-21) 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 Morphological sole abnormality

Genes involved and Proteins

Gene Name KMT2A
Location 11q23
Dna / Rna 37 exons, spanning over 100 kb; transcription in a centromeric to telomeric direction; 13 and 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 Name LASP1
Location 17q12
Note previously LASP1 and MLLT6 (alis AF17) were mapped to 17q21, but according to the most recent genome assembly built and recent FISH data both genes are localized in 17q12 and proximal to RARA
Dna / Rna 7 exons spanning about 50 kb of genomic DNA; 3845 bp mRNA, 783 bp coding sequence; ubiquitous expression
Protein LASP1 encodes a member of a LIM protein subfamily; contains a LIM motif, two actin-binding domains, and an SH3 domain; cytoplasmic localization

Result of the chromosomal anomaly

Hybrid gene
Transcript 5'MLL - 3'LASP1; also the reciprocal 5'LASP1 - 3'MLL is present
  
Fusion Protein
 
  Schematic representation of MLL, LASP1, and the putative MLL-LASP1 and LASP1-MLL fusion proteins.
Description the C-terminal SH3 domain of LASP1 is fused to the N-terminal portion of MLL retaining the AT-hook DNA-binding domain and the DNA methyltransferase motif (MT)
  

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.

Bibliography

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
 
The human LASP1 gene is fused to MLL in an acute myeloid leukemia with t(11;17)(q23;q21).
Strehl S, Borkhardt A, Slany R, Fuchs UE, König M, Haas OA
Oncogene. 2003 ; 22 (1) : 157-160.
PMID 12527918
 

Citation

This paper should be referenced as such :
Strehl, S
t(11;17)(q23;q12-21) MLL/LASP1
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):28-29.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1117q23q21LASP1ID1367.html


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

Genes LASP1 KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;17)(q23;q12) KMT2A/LASP1

External links

KMT2A (11q23.3) LASP1 (17q12)

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]
 
TICdbKMT2A/LASP1  KMT2A (11q23.3) LASP1 (17q12)
 
Disease databaset(11;17)(q23;q12-21) KMT2A/LASP1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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