t(8;16)(p11;p13)

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t(8;16)(p11;p13)

Identity

t(8;16)(p11;p13) G- banding (left) - Courtesy Jean-Luc Lai (top left) and Charles D. Bangs (middle and bottom left), R- banding (top right) - Courtesy Jean-Luc Lai, and ideogram (bottom right) - Courtesy Charles D. Bangs.

Clinics and Pathology

Disease ANLL; t-ANLL

Phenotype / cell stem origin M4, M5a, M5b; possible involvement of a granulo-monocytic precursor; no preceeding MDS

Epidemiology rare disease (<1% of ANLL); found in children (including infants) and young adults of both sexes.

Clinics disseminated intra vascular coagulation may be present; extramedullary infiltration; 20% of the cases could be therapy-related

Cytology erythrophagocytosis, strong peroxidase and esterase activities

The t(8;16) has been cloned and shown to fuse the MOZ (monocytic leukemia zinc finger) gene at 8p11.2 to the CBP (CREB binding protein) gene at 16p13.3. The MOZ gene has also been found to be involved in variant translocations t(8;19)(p11;q13) and t(8;22)(p11;q13) and inv(8)(p11q13) translocations associated with M5/M4 AML.This translocation is associated with AML M5/M4. In the majority of cases it is associated with features of hemophagocytosis by leukemic cells, particularly erythrophagocytosis - Courtesy Georges Flandrin, CD-ROM AML/MDS G.Flandrin/ICG. TRIBVN

Prognosis poor: remission may be obtained in half cases; infections, bleeding; survival is often less than 1yr but spontaneous remission has occurred (at least) once.

Cytogenetics

Additional anomalies in half cases; +8 ,various; complex karyotype may be found.

Variants complex t(8;16;Var) involving a (variable) third chromosome have been described; 8p11 breakpoint with another partner as well, of which is the recurrent t(8;22)(p11;q13), which may involve P300 on 22q13 in the place of CBP: this translocation would therefore be an equivalent (not identical), and not a simple variant with hidden 16p13 involvement.

Genes involved and Proteins

Gene Name MOZ

Location 8p11

Gene Name CBP

Location 16p13

Result of the chromosomal anomaly

Hybrid gene
Description 5' MOZ - 3' CBP

Fusion Protein
Description N-term MOZ fused to most of CBP; 3722 amino acids; 415 kDa; combines the MOZ finger motifs (DNA binding) and acetyl transferase with the transcriptional coactivator from CBP; the reciprocal CBP-MOZ has no role (as it is out of frame)

External links

Other database t(8;16)(p11;p13) Mitelman database (CGAP - NCBI)

Other database t(8;16)(p11;p13) CancerChromosomes (NCBI)

Other database	t(8;16)(p11;p13)	Mitelman database (CGAP - NCBI)
Other database	t(8;16)(p11;p13)	CancerChromosomes (NCBI)

Bibliography

The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein.

Borrow J, Stanton VP Jr, Andresen JM, Becher R, Behm FG, Chaganti RS, Civin CI, Disteche C, Dubˆ© I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE

Nature genetics. 1996 ; 14 (1) : 33-41.

PMID 8782817

Spontaneous remission of congenital leukemia.

Dinulos JG, Hawkins DS, Clark BS, Francis JS

The Journal of pediatrics. 1997 ; 131 (2) : 300-303.

PMID 9290620

The 8p11 anomaly in monoblastic leukaemia.

Brizard A, Guilhot F, Huret JL, Benz-Lemoine E, Tanzer J

Leukemia research. 1988 ; 12 (8) : 693-697.

PMID 3184987

Therapy-related acute myeloid leukemia with t(8;21), inv(16), and t(8;16): a report on 25 cases and review of the literature.

Quesnel B, Kantarjian H, Bjergaard JP, Brault P, Estey E, Lai JL, Tilly H, Stoppa AM, Archimbaud E, Harousseau JL

Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1993 ; 11 (12) : 2370-2379.

PMID 8246025

A distinct subtype of M4/M5 acute myeloblastic leukemia (AML) associated with t(8:16)(p11:p13), in a patient with the variant t(8:19)(p11:q13)--case report and review of the literature.

Stark B, Resnitzky P, Jeison M, Luria D, Blau O, Avigad S, Shaft D, Kodman Y, Gobuzov R, Ash S

Leukemia research. 1995 ; 19 (6) : 367-379.

PMID 7596149

Translocation t(8;16)(p11;p13) in acute non-lymphocytic leukemia: report on two new cases and review of the literature.

Velloso ER, Mecucci C, Michaux L, Van Orshoven A, Stul M, Boogaerts M, Bosly A, Cassiman JJ, Van Den Berghe H

Leukemia & lymphoma. 1996 ; 21 (1-2) : 137-142.

PMID 8907281

Contributor(s)

Written 10-1997 Christine Pérot and Jean-Loup Huret

Updated 12-1998 Christine Pérot and Jean-Loup Huret

Citation

This paper should be referenced as such :
- . t(8;16)(p11;p13). Atlas Genet Cytogenet Oncol Haematol. October 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/t0816.html

Pérot C and Huret JL . t(8;16)(p11;p13). Atlas Genet Cytogenet Oncol Haematol. December 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/t0816.html

Pérot C and Huret JL . t(8;16)(p11;p13). Atlas Genet Cytogenet Oncol Haematol. .
URL : http://AtlasGeneticsOncology.org/Genes/t0816.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Sep 5 17:09:50 2008

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For comments and suggestions or contributions, please contact us

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

Disease	ANLL; t-ANLL
Phenotype / cell stem origin	M4, M5a, M5b; possible involvement of a granulo-monocytic precursor; no preceeding MDS
Epidemiology	rare disease (<1% of ANLL); found in children (including infants) and young adults of both sexes.
Clinics	disseminated intra vascular coagulation may be present; extramedullary infiltration; 20% of the cases could be therapy-related
Cytology	erythrophagocytosis, strong peroxidase and esterase activities


	The t(8;16) has been cloned and shown to fuse the MOZ (monocytic leukemia zinc finger) gene at 8p11.2 to the CBP (CREB binding protein) gene at 16p13.3. The MOZ gene has also been found to be involved in variant translocations t(8;19)(p11;q13) and t(8;22)(p11;q13) and inv(8)(p11q13) translocations associated with M5/M4 AML.This translocation is associated with AML M5/M4. In the majority of cases it is associated with features of hemophagocytosis by leukemic cells, particularly erythrophagocytosis - Courtesy Georges Flandrin, CD-ROM AML/MDS G.Flandrin/ICG. TRIBVN

Prognosis	poor: remission may be obtained in half cases; infections, bleeding; survival is often less than 1yr but spontaneous remission has occurred (at least) once.

Additional anomalies	in half cases; +8 ,various; complex karyotype may be found.
Variants	complex t(8;16;Var) involving a (variable) third chromosome have been described; 8p11 breakpoint with another partner as well, of which is the recurrent t(8;22)(p11;q13), which may involve P300 on 22q13 in the place of CBP: this translocation would therefore be an equivalent (not identical), and not a simple variant with hidden 16p13 involvement.

Description	N-term MOZ fused to most of CBP; 3722 amino acids; 415 kDa; combines the MOZ finger motifs (DNA binding) and acetyl transferase with the transcriptional coactivator from CBP; the reciprocal CBP-MOZ has no role (as it is out of frame)

Written	10-1997	Christine Pérot and Jean-Loup Huret

Updated	12-1998	Christine Pérot and Jean-Loup Huret