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t(11;22)(q23;q11.2) KMT2A/SEPT5

Written2000-02Jean-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 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 1183
Note not to be confused with the t(11;22)(q23;q13), involving MLL and P300

Clinics and Pathology

Disease de novo acute myeloid leukemia (AML), so far
Phenotype / cell stem origin 2 cases of M4, one M2, and one M1
Epidemiology yet poorly known; 2 young adulds (22 and 34 yrs) and 2 infant twins; 2M/2F
Prognosis documented in only 2 cases (dead at 10 and 21 mths); likely to be comparable with that of other entities with 11q23/MLL11q23/MLL involvement

Cytogenetics

Cytogenetics Morphological sole anomaly in 3 of 3 cases

Genes involved and Proteins

Gene Name KMT2A
Location in 11q23
Dna / Rna 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 SEPT5
Location 22q11
Dna / Rna 2 kb mRNA
Protein hCDCRel (human cell division cycle related) is a septin (family of filament forming proteins, involved in cytosqueletal organization)

Result of the chromosomal anomaly

Hybrid gene
Description 5 prime MLL - 3 poime hCDCRel, with fusion of MLL exon 7 to hCDCRel exon 3
  

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 myeloid leukemia with 11q23 translocations: myelomonocytic immunophenotype by multiparameter flow cytometry.
Baer MR, Stewart CC, Lawrence D, Arthur DC, Mrózek K, Strout MP, Davey FR, Schiffer CA, Bloomfield CD
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (3) : 317-325.
PMID 9529125
 
Molecular cloning of the breakpoint of t(11;22) (q23;q11) chromosome translocation in an adult acute myelomonocytic leukaemia.
Marukawa O, Akao Y, Inazawa J, Ariyama T, Abe T, Naoe T, Tanimoto M, Saito H, Otsuki Y, Tsujimoto Y
British journal of haematology. 1996 ; 92 (3) : 687-691.
PMID 8616037
 
t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes.
Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (11) : 6413-6418.
PMID 9600980
 
Structure and expression of the human septin gene HCDCREL-1.
Yagi M, Zieger B, Roth GJ, Ware J
Gene. 1998 ; 212 (2) : 229-236.
PMID 9611266
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;22)(q23;q11.2)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):35-36.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1122hCDCrelID1183.html


Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes SEPT5 KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;22)(q23;q11.2) KMT2A/SEPT5

External links

KMT2A (11q23.3) SEPT5 (22q11.21)

KMT2A (11q23.3) SEPT5 (22q11.21)

Mitelman databaset(11;22)(q23;q11.2) [Case List]    t(11;22)(q23;q11.2) [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 ( 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]
 
COSMIC_fusionKMT2A/SEPT5 KMT2A (11q23.3) SEPT5 (22q11.21)   [fusion1844]   [fusion1845]  
TICdbKMT2A/SEPT5  KMT2A (11q23.3) SEPT5 (22q11.21)
 
Disease databaset(11;22)(q23;q11.2) KMT2A/SEPT5
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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