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t(5;11)(q31;q23) KMT2A/ARHGAP26

Written2001-03Stig E Bojesen
Department of Clinical Biochemistry, Herlev University Hospital, Herlev Ringvej 75, Herlev DK-2730, Denmark

(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
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1192

Clinics and Pathology

Phenotype / cell stem origin 1 case of chronic myelogenous leukemia (CML), one JMML evolving towards a M4-M5 type acute myeloid leukemia (AML), two M5-AML, one treatment related AML (t-AML), and one L2 acute lymphoblastic leukemia (ALL)
Epidemiology 6 cases known in the litterature; two infants, one 18 months old baby, and three adults (?, 55, 60 yrs); sex ration 4M/1F
Clinics WBC: 20-420 X 109 /l
Pathology In at least 2 infant cases, cutane infiltrations were noticed
Prognosis survival (mths) was: 8+, 17, 17+, 48+ and 65+

Cytogenetics

Additional anomalies sole anomaly in 5 of 6 cases; acompanied with +8 in one case

Genes involved and Proteins

Gene Name ARHGAP26
Location 5q31
Gene Name KMT2A
Location 11q23

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-Inverted MLL-GRAF 3'
  
Fusion Protein
Description Hybrid transcript MLL-GRAF contains the code for the following domains: AT-hook+DNA methyltransferase (from MLL) + SH3 (from GRAF)
  

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

The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.
Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (16) : 9168-9173.
PMID 10908648
 
The isolation of a yeast artificial chromosome which spans the chromosome 11q23 region involved in a number of translocations in acute leukaemias.
Bower M, Chaplin T, Das S, Kearney L, Gibbons B, Riley JH, Lister TA, Young BD
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1993 ; 7 Suppl 2 : S34-S39.
PMID 8361230
 
Congenital leukemia: successful treatment of a newborn with t(5;11)(q31;q23).
Fernandez MC, Weiss B, Atwater S, Shannon K, Matthay KK
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology. 1999 ; 21 (2) : 152-157.
PMID 10206463
 
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
 
AML associated with previous cytotoxic therapy, MDS or myeloproliferative disorders: results from the MRC's 9th AML trial.
Hoyle CF, de Bastos M, Wheatley K, Sherrington PD, Fischer PJ, Rees JK, Gray R, Hayhoe FG
British journal of haematology. 1989 ; 72 (1) : 45-53.
PMID 2736242
 
Acute myeloid leukemia with t(5;11): two case reports.
Itoh M, Okazaki T, Tashima M, Sawada H, Uchiyama T
Leukemia research. 1999 ; 23 (7) : 677-680.
PMID 10400190
 
Chromosome 11q23 translocations in both infant and adult acute leukemias are detected by in situ hybridization with a yeast artificial chromosome.
Kearney L, Bower M, Gibbons B, Das S, Chaplin T, Nacheva E, Chessells JM, Reeves B, Riley JH, Lister TA
Blood. 1992 ; 80 (7) : 1659-1665.
PMID 1391936
 

Citation

This paper should be referenced as such :
Bojesen, SE
t(5;11)(q31;q23)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):127-128.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0511ID1192.html


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

Genes ARHGAP26 KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;11)(q31;q23) KMT2A/ARHGAP26

External links

KMT2A (11q23.3) ARHGAP26 (5q31.3)

KMT2A (11q23.3) ARHGAP26 (5q31.3)

Mitelman databaset(5;11)(q31;q23) [Case List]    t(5;11)(q31;q23) [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]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/ARHGAP26 KMT2A (11q23.3) ARHGAP26 (5q31.3)   [fusion1936]   [fusion1937]   [fusion1938]   [fusion1939]  
TICdbKMT2A/ARHGAP26  KMT2A (11q23.3) ARHGAP26 (5q31.3)
 
Disease databaset(5;11)(q31;q23) KMT2A/ARHGAP26
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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