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t(11;17)(q23;p13) KMT2A/GAS7

Written2000-06Jean-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 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
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
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1137
Note the translocation may be hidden, and can present as a del(11)(q23)

Clinics and Pathology

Disease acute myeloid leukemia (AML), acute lymphocytic leukemia (ALL)
Clinics poorly known: a few cases, but without ascertainement of GAS7 involvement (a gene in 17p13); they are cases of MDS in transformation, AML, bi-phenotypic leukemia, and ALL; one the other hand, one case of t(11;17) with MLL and GAS7 involvementshas been described: a 13-year-old boy, with a M4 treatment-related AML and a karyotype with an apparent del(11)(q23) (a cryptic t(11;17)(q23;p13)); four months later the patient died

Genes involved and Proteins

Gene Name KMT2A
Location 11q23
Dna / Rna 21 exons, spanning over 100 kb; 13-15 kb mRNA
Protein 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation
Gene Name GAS7
Location 17p13
Dna / Rna genomic sequence 167 kb; 14 exons
Protein expression in quiescent/terminally differenciated cells, especially in the brain

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-3' GAS7; breakpoint in MLL intron 8, in MLL bcr; GAS7 breakpoint upstream of exon 1; fusion of mLL exon 7 or exon 8 to GAS7 exon 2
  

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

Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.
Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (5) : 811-822.
PMID 9593286
 
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.
Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ, Felix CA
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (6) : 2814-2819.
PMID 10706619
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;17)(q23;p13)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):127-127.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1117ID1137.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;17)(q23;p13) KMT2A/GAS7

External links

KMT2A (11q23.3) GAS7 (17p13.1)

KMT2A (11q23.3) GAS7 (17p13.1)

Mitelman databaset(11;17)(q23;p13) [Case List]    t(11;17)(q23;p13) [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 ( 9811/3) - 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]
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/GAS7 KMT2A (11q23.3) GAS7 (17p13.1)   [fusion1890]   [fusion1891]   [fusion1892]   [fusion1893]  
TICdbKMT2A/GAS7  KMT2A (11q23.3) GAS7 (17p13.1)
 
Disease databaset(11;17)(q23;p13) KMT2A/GAS7
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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