t(11;17)(q23;q25) KMT2A/SEPT9

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Written2000-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

1. Identity

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
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1133
  t(11;17)(q23;q25) G-banding; left: - Courtesy Jean Luc Lai; right: Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap =UW Cytogenetic Services .

2. Clinics and Pathology

Disease de novo and treatment related acute myeloid leukemia (AML), myelodysplastic syndromes (MDS); acute lymphoblastic leukemia (ALL) at times
Phenotype / cell stem origin various subtypes of AML may be found, M4 in particular, but also M1, M2, M5
Epidemiology at least 24 cases described; often found in children and young adults
Prognosis poor

3. Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Protein contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation
Gene NameSEPT9 (MLL septin-like fusion)
Location 17q25.2
Protein protein which belongs to the septin family

4. Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL - 3' MSF; fusion at MLL exon 5; the reciprocal MSF-MLL is also transcribed, but out of frame
Fusion Protein
Description NH2 - AT hook and DNA methyltransferase from MLL fused to most of MSF in COOH

5. 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
MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).
Osaka M, Rowley JD, Zeleznik-Le NJ
Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (11) : 6428-6433.
PMID 10339604
AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25).
Taki T, Ohnishi H, Shinohara K, Sako M, Bessho F, Yanagisawa M, Hayashi Y
Cancer research. 1999 ; 59 (17) : 4261-4265.
PMID 10485469

6. Citation

This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):76-77.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t1117ID1133.html

7. Translocations implicated (Data extracted from papers in the Atlas)

 t(11;17)(q23;q25) KMT2A/SEPT9

8. External links

KMT2A (11q23.3) SEPT9 (17q25.2)

KMT2A (11q23.3) SEPT9 (17q25.2)

Mitelman databaset(11;17)(q23;q25) [Case List]    t(11;17)(q23;q25) [Transloc-MCList] KMT2A/SEPT9 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9813/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionKMT2A/SEPT9 KMT2A (11q23.3) SEPT9 (17q25.2)   [fusion1927]   [fusion1928]   [fusion1929]   [fusion1930]   [fusion1931]   [fusion1932]   [fusion1933]   [fusion1934]   [fusion1935]   [fusion2065]  
TICdbKMT2A/SEPT9  KMT2A (11q23.3) SEPT9 (17q25.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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