t(11;17)(q23;q12-21) KMT2A/LASP1
2005-08-01 Sabine Strehl Affiliation1.Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
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 (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
37 exons, spanning over 100 kb; transcription in a centromeric to telomeric direction; 13 and 15 kb mRNA; coding sequence: 11.9 kb
Protein description
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 (LIM and SH3 protein)
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 description
7 exons spanning about 50 kb of genomic DNA; 3845 bp mRNA, 783 bp coding sequence; ubiquitous expression
Protein description
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
Transcript
5MLL - 3LASP1; also the reciprocal 5LASP1 - 3MLL is present
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)
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15676155 | 2005 | Acute myelocytic leukemia with t(11;17)(q23;q12-q21) involves a fusion of MLL and AF17. | Moore SD et al |
| 12527918 | 2003 | The human LASP1 gene is fused to MLL in an acute myeloid leukemia with t(11;17)(q23;q21). | Strehl S et al |
Summary
Fusion gene
KMT2A/LASP1 KMT2A (11q23.3) LASP1 (17q12) TIC
t(11;17)(q23;q12-21) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.
Citation
Sabine Strehl
t(11;17)(q23;q12-21) KMT2A/LASP1
Atlas Genet Cytogenet Oncol Haematol. 2005-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1367/t(11;17)(q23;q12-21)-kmt2a-lasp1
