| Written | 2005-08 | Sabine Strehl |
| Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria |
| 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 |
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| 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 (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 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 (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 | 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 |
| Transcript | 5'MLL - 3'LASP1; also the reciprocal 5'LASP1 - 3'MLL 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) |
| 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 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(11;17)(q23;q12) KMT2A/LASP1 | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Nov 6 14:03:56 CET 2018 |
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