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t(11;15)(q23;q14) KMT2A/CASC5

Written2000-03Jean-Loup Huret, Christiane Charrin
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH); Service d'Hematologie, Hopital Edouard Herriot, Lyon, France (CC).

(Note : for Links provided by Atlas : click)


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 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1199
  t(11;15)(q23;q14) (R-banding) - Christiane Charrin.

Clinics and Pathology

Disease only 1 case with the ascertainment of AF15q14 involvement; a the very few other cases may or may not carry the same rearrangement
Phenotype / cell stem origin M4 AML in the AF15q14 case
Clinics a 48 yr old man with previous history of toxic exposure who died 4 mths after diagnosis


Additional anomalies + mar

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 21 exons, spanning over 100 kb; 13-15 kb mRNA
Protein 3969 amino acids; 431 KDa; contains two DNA binding motifs: a AT hook homologous to high mobility group proteins HMGI-(Y) and HMGI(C) that binds to the minor groove of DNA , and zinc fingers, a DNA methyl transferase motif, a bromodomain, and segments of homology with trithorax, in particular in the C-terminal SET domain
Gene NameKNL1 (cancer susceptibility candidate 5)
Location 15q15.1
Dna / Rna at least 10 exons; spans more than 35 kb
Protein 1833 amino acids; 206 kDa; nuclear localization domain in the c-term

To be noted

Case Report Translocation t(11;15)(q23;q14) detected in AML at first relapse


AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).
Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, Beillard E, Deleage G, Magaud JP, Rimokh R
Oncogene. 2000 ; 19 (38) : 4446-4450.
PMID 10980622
Translocation (11;15)(q23;q14) in three patients with acute non-lymphoblastic leukemia (AML): clinical, cytogenetic and molecular studies.
Hernández JM, Mecucci C, Beverloo HB, Selleri L, Wlodarska I, Stul M, Michaux L, Verhoef G, Van Orshoven A, Cassiman JJ
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (7) : 1162-1166.
PMID 7630191
Frequency and prognostic significance of HRX rearrangements in infant acute lymphoblastic leukemia: a Pediatric Oncology Group study.
Rubnitz JE, Link MP, Shuster JJ, Carroll AJ, Hakami N, Frankel LS, Pullen DJ, Cleary ML
Blood. 1994 ; 84 (2) : 570-573.
PMID 8025282


This paper should be referenced as such :
Huret, JL ; Charrin, C
Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):70-71.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 3 ]

Genes A2M KNL1 KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;15)(q23;q14) KMT2A/CASC5

External links

KMT2A (11q23.3) CASC5 (15q15.1)

KMT2A (11q23.3) CASC5 (15q15.1)

Mitelman databaset(11;15)(q23;q14)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [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 ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionKMT2A/CASC5 KMT2A (11q23.3) CASC5 (15q15.1)   [fusion1869]   [fusion1870]   [fusion1871]   [fusion1879]   [fusion1880]   [fusion1881]   [fusion1943]  
TICdbKMT2A/CASC5  KMT2A (11q23.3) CASC5 (15q15.1)
REVIEW articlesautomatic search in PubMed
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