t(5;11)(q31;q23)

Clinics and Pathology

Phenotype / cell stem origin	1 case of chronic myelogenous leukemia (CML), one JMML evolving towards a M4-M5 type acute non lymphocytic leukemia (ANLL), two M5-ANLL, one treatment related ANLL (t-ANLL), 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

Probes	YAC, 13HH4
Additional anomalies	sole anomaly in 5 of 6 cases; acompanied with +8 in one case

Genes involved and Proteins

Gene Name	GRAF (GTPase regulator associated with FAK)
Location	5q31

Gene Name	MLL (Mixed Lineage Leukemia)
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)

External links

Other database	t(5;11)(q31;q23)	Mitelman database (CGAP - NCBI)
Other database	t(5;11)(q31;q23)	CancerChromosomes (NCBI)

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

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

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

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

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

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

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

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

Contributor(s)

Written	03-2001	Stig E Bojesen

Citation

This paper should be referenced as such :

Bojesen SE . t(5;11)(q31;q23). Atlas Genet Cytogenet Oncol Haematol. March 2001 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0511ID1192.html

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indexed on : Mon May 12 18:12:22 2008

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