Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(10;11)(q22;q23)

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Phenotype / cell stem origin Described in subtypes AML-M2, -M4 and -M5. Cell lineage dysplasia may be associated.
Epidemiology Less than 10 cases described, mainly adults and one child.
Prognosis Undetermined, possibly intermediate.

Cytogenetics

Cytogenetics Morphological Easy to detect, evident 10q- and 11q+ derivatives.
Cytogenetics Molecular Commercial dual color MLL FISH probes are splitted by the translocation. 10q22 breakpoint may be detected with RP11-119F7 BAC probe.
Additional anomalies Sole anomaly in half published cases, complex karyotype in others.

Genes involved and Proteins

Gene Name MLL
Location 11q23
Note MLL (mixed-lineage leukemia or myeloid-lymphoid leukaemia) is also called ALL-1 or HRX
Dna / Rna 36 exons, multiple transcripts 13-15 kb.
Protein 430 kDA, contains two DNA binding motifs (a AT hook and a CXXC domain), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor involved in maintenance of Hox gene expression during embryogenesis and during the process of haematopoietic progenitors expansion and differentiation.
Gene Name CXXC6
Location 10q22
Note CXXC6 ( CXXC finger 6 ) is also called LCX (leukemia-associated protein with a CXXC domain) or TET1
Dna / Rna 8497 bp representing the whole coding sequence. At least 12 exons. Contains 3 bipartite nuclear localization sites, 1 alpha helice coiled-coil region and 1 cysteine rich domain with high level homology with a CXXC DNA binding site.
Protein Predicted size of 2136 amino acids, expression restricted to some fetal tissues, mainly lung, heart and brain; not expressed in hematopoietic tissues, except in spleen; unknown function.

Result of the chromosomal anomaly

Hybrid gene
Description Breakpoint within MLL intron 6 and LCX intron 8; MLL exon 8 is fused in frame with LCX exon 9 and transcripts from the 5' MLL-LCX 3' fusion gene on der(11) are expressed; transcripts from the 5' LCX-MLL3' counterpart are not detected.
  
Fusion Protein
Description Predicted molecular weight of 204.4 kDa.
Oncogenesis Unknown; the alpha helice coiled-coil region retained at the COOH extremity might be involved in the leukemogenesis.
  

External links

Other databaset(10;11)(q22;q23) Mitelman database (CGAP - NCBI)
Other databaset(10;11)(q22;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

Involvement of MLL gene in a t(10;11)(q22;q23) and a t(8;11)(q24;q23) identified by fluorescence in situ hybridization.
Aventˆ‚n A, La Starza R, Martˆ‚nez C, Wlodarska I, Boogaerts M, Van den Berghe H, Mecucci C
Cancer genetics and cytogenetics. 1999 ; 108 (1) : 48-52.
PMID 9973924
 
LCX, leukemia-associated protein with a CXXC domain, is fused to MLL in acute myeloid leukemia with trilineage dysplasia having t(10;11)(q22;q23).
Ono R, Taki T, Taketani T, Taniwaki M, Kobayashi H, Hayashi Y
Cancer research. 2002 ; 62 (14) : 4075-4080.
PMID 12124344
 
TET1, a member of a novel protein family, is fused to MLL in acute myeloid leukemia containing the t(10;11)(q22;q23).
Lorsbach RB, Moore J, Mathew S, Raimondi SC, Mukatira ST, Downing JR
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (3) : 637-641.
PMID 12646957
 
Identification and characterization of human CXXC10 gene in silico.
Katoh M, Katoh M
International journal of oncology. 2004 ; 25 (4) : 1193-1199.
PMID 15375572
 

Contributor(s)

Written02-2008Franck Viguié
Laboratoire de Cytogénétique - Service d'Hématologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

Citation

This paper should be referenced as such :
Viguié F . t(10;11)(q22;q23). Atlas Genet Cytogenet Oncol Haematol. February 2008 .
URL : http://AtlasGeneticsOncology.org/Genes/t1011q22q23ID1410.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:20:42 2008


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

j.l.huret@chu-poitiers.fr.