t(8;14) (q24;q11)

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t(8;14) (q24;q11)

Identity

t(8;14)(q24;q11) R-banding, Jacques Boyer

Clinics and Pathology

Disease acute lymphoblastic leukemia (ALL), (rare lymphoblastic lymphoma)

Phenotype / cell stem origin T lineage ( TCR alpha beta + or TCR gamma delta ). May be early-B lineage : conceivably the rare cases with early-B lineage represent a bipotential B-T lineage.

Epidemiology rare: prevalence 0.5 to 1.3 % among all cases off ALL and about 2% among T ALL; male predominance; median age 5 years

Clinics bulky extramedullary leukemia, central nervous system (CNS) infiltration

Cytology high white blood cell count

Prognosis the disease progress rapidly and response to conventional therapy is poor, median survival 11 months

Cytogenetics

Additional anomalies sole anomaly in half cases; additional anomalies are variable

Genes involved and Proteins

Note on the molecular point of view the proto oncogen c-myc is juxtaposed with the gene of the T-cell receptor alpha chain (TCR-alpha)

Gene Name C-MYC

Location 8q24

Dna / Rna c-myc has three exons, two promoters P1 and P2 control the c-myc transcription

Protein Myc protein is a transcription factor of the helix loop leucin zipper family that activates transcription as obligate heterodimer with a partner protein, Max

Gene Name TCR-alpha and TCR-delta

Location 14q11.2

Dna / Rna the TCR delta variable (V) diversity (D) joining (J) and constant region genes are situated within the TCR alpha locus between the TCR alpha V and the TCR alpha J segments. The TCR alpha/delta locus is transcribed in a centromer to telomer direction.

Protein T-cell receptor

Result of the chromosomal anomaly

Hybrid gene
Description the majority of breakpoints are localised within the TCR delta gene although they may also involve TCR alpha J and rarely TCR alpha V. The 3' part of the TCR alpha gene is relocated downstream of the c-myc protooncogene. The c-myc oncogene is not structurally altered.

Transcript detection of TCR alpha rearrangements is hampered by the large number of J segments

Fusion Protein
Note no fusion protein but promoter exchange

Description high levels of electrophoretically normal p64 and p67 c-myc proteins are detected and both products keep their instability. Preferential utilization of P2 is maintained.

Oncogenesis the activation of the gene myc is likely to result from its juxtaposition to the enhancer element of the TCR alpha gene with stimulates constitutive synthesis of normal c-myc.

External links

Other database t(8;14) (q24;q11) Mitelman database (CGAP - NCBI)

Other database t(8;14) (q24;q11) CancerChromosomes (NCBI)

Other database	t(8;14) (q24;q11)	Mitelman database (CGAP - NCBI)
Other database	t(8;14) (q24;q11)	CancerChromosomes (NCBI)

To be noted

the identification of a breakpoint to the 3' side of c-myc suggest that this translocation is analogous to the t(2;8) and t(8;22) in Burkitt lymphoma. It is hypothesized that quantitative alteration of c-myc transcription alone may be sufficient for altered growth.

Bibliography

Molecular cloning of a DNA fragment from human chromosome 14(14q11) involved in T-cell malignancies.

Mathieu-Mahul D, Caubet JF, Bernheim A, Mauchauffˆ© M, Palmer E, Berger R, Larsen CJ

The EMBO journal. 1985 ; 4 (13A) : 3427-3433.

PMID 3912169

Gene encoding the alpha chain of the T-cell receptor is moved immediately downstream of c-myc in a chromosomal 8;14 translocation in a cell line from a human T-cell leukemia.

Shima EA, Le Beau MM, McKeithan TW, Minowada J, Showe LC, Mak TW, Minden MD, Rowley JD, Diaz MO

Proceedings of the National Academy of Sciences of the United States of America. 1986 ; 83 (10) : 3439-3443.

PMID 3517860

Deregulation of c-myc by translocation of the alpha-locus of the T-cell receptor in T-cell leukemias.

Erikson J, Finger L, Sun L, ar-Rushdi A, Nishikura K, Minowada J, Finan J, Emanuel BS, Nowell PC, Croce CM

Science (New York, N.Y.). 1986 ; 232 (4752) : 884-886.

PMID 3486470

Molecular cloning of the breakpoint junction of a human chromosomal 8;14 translocation involving the T-cell receptor alpha-chain gene and sequences on the 3' side of MYC.

McKeithan TW, Shima EA, Le Beau MM, Minowada J, Rowley JD, Diaz MO

Proceedings of the National Academy of Sciences of the United States of America. 1986 ; 83 (17) : 6636-6640.

PMID 3529089

A t(8;14)(q24;q11) translocation in a T-cell leukemia (L1-ALL) with c-myc and TcR-alpha chain locus rearrangements.

Mathieu-Mahul D, Sigaux F, Zhu C, Bernheim A, Mauchauffe M, Daniel MT, Berger R, Larsen CJ

International journal of cancer. Journal international du cancer. 1986 ; 38 (6) : 835-840.

PMID 3466870

Molecular mechanisms of a t(8;14)(q24;q11) translocation juxtaposing c-myc and TcR-alpha genes in a T-cell leukaemia: involvement of a V alpha internal heptamer.

Bernard O, Larsen CJ, Hampe A, Mauchauffˆ© M, Berger R, Mathieu-Mahul D

Oncogene. 1988 ; 2 (2) : 195-200.

PMID 2966921

An (8;14)(q24;q11) translocation involving the T-cell receptor alpha-chain gene and the MYC oncogene 3' region in a B-cell lymphoma.

Park JK, McKeithan TW, Le Beau MM, Bitter MA, Franklin WA, Rowley JD, Diaz MO

Genes, chromosomes & cancer. 1989 ; 1 (1) : 15-22.

PMID 2535034

Rearrangements in the human T-cell-receptor alpha-chain locus in patients with adult T-cell leukemia carrying translocations involving chromosome 14q11.

Isobe M, Sadamori N, Russo G, Shimizu S, Yamamori S, Itoyama T, Yamada Y, Ikeda S, Ichimaru M, Kagan J

Cancer research. 1990 ; 50 (19) : 6171-6175.

PMID 2169336

Translocation between chromosomes 8q24 and 14q11 in T-cell acute lymphoblastic leukemia.

Inaba T, Murakami S, Oku N, Itoh K, Ura Y, Nakanishi S, Shimazaki C, Nishio A, Nakagawa M, Fujita N

Cancer genetics and cytogenetics. 1990 ; 49 (1) : 69-74.

PMID 2397475

c-myc gene expression in a leukemic T-cell line bearing a t(8;14) (q24;q11) translocation.

Soudon J, Bernard O, Mathieu-Mahul D, Larsen CJ

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1991 ; 5 (1) : 60-65.

PMID 1705637

Karyotype and T-cell receptor expression in T-lineage acute lymphoblastic leukemia.

Secker-Walker LM, Campana D, Hawkins JM, Sampson RE, Coustan-Smith E

Genes, chromosomes & cancer. 1992 ; 4 (1) : 41-45.

PMID 1377008

Pediatric leukemia/lymphoma with t(8;14)(q24;q11).

Lange BJ, Raimondi SC, Heerema N, Nowell PC, Minowada J, Steinherz PE, Arenson EB, O'Connor R, Santoli D

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1992 ; 6 (7) : 613-618.

PMID 1385638

A new case of acute lymphoblastic leukemia B-cell type with chromosomal rearrangements involving the T-cell receptor breakpoint at band 14q11.

Cigudosa JC, Calasanz MJ, Gullˆ„n A, Prˆ„sper F, Cuesta B, Rifˆ„n J, Rocha E

American journal of hematology. 1992 ; 41 (2) : 137-139.

PMID 1415175

Molecular involvement of the pvt-1 locus in a gamma/delta T-cell leukemia bearing a variant t(8;14)(q24;q11) translocation.

Kasai M, Maziarz RT, Aoki K, Macintyre E, Strominger JL

Molecular and cellular biology. 1992 ; 12 (10) : 4751-4757.

PMID 1406658

Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A Collaborative Study of the Group Franˆßais de Cytogˆ©nˆ©tique Hˆ©matologique.

Blood. 1996 ; 87 (8) : 3135-3142.

PMID 8605327

Molecular analysis of the t(8;14)(q24;q11) chromosomal breakpoint junctions in the T-cell leukemia line MOLT-16.

Shima-Rich EA, Harden AM, McKeithan TW, Rowley JD, Diaz MO

Genes, chromosomes & cancer. 1997 ; 20 (4) : 363-371.

PMID 9408752

Contributor(s)

Written 04-2001 Jacques Boyer

Citation

This paper should be referenced as such :
Boyer J . t(8;14) (q24;q11). Atlas Genet Cytogenet Oncol Haematol. April 2001 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0814ID1061.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 12 18:12:39 2008

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For comments and suggestions or contributions, please contact us

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

Disease	acute lymphoblastic leukemia (ALL), (rare lymphoblastic lymphoma)
Phenotype / cell stem origin	T lineage ( TCR alpha beta + or TCR gamma delta ). May be early-B lineage : conceivably the rare cases with early-B lineage represent a bipotential B-T lineage.
Epidemiology	rare: prevalence 0.5 to 1.3 % among all cases off ALL and about 2% among T ALL; male predominance; median age 5 years
Clinics	bulky extramedullary leukemia, central nervous system (CNS) infiltration
Cytology	high white blood cell count
Prognosis	the disease progress rapidly and response to conventional therapy is poor, median survival 11 months

Gene Name	C-MYC
Location	8q24
Dna / Rna	c-myc has three exons, two promoters P1 and P2 control the c-myc transcription
Protein	Myc protein is a transcription factor of the helix loop leucin zipper family that activates transcription as obligate heterodimer with a partner protein, Max

Gene Name	TCR-alpha and TCR-delta
Location	14q11.2
Dna / Rna	the TCR delta variable (V) diversity (D) joining (J) and constant region genes are situated within the TCR alpha locus between the TCR alpha V and the TCR alpha J segments. The TCR alpha/delta locus is transcribed in a centromer to telomer direction.
Protein	T-cell receptor

Description	the majority of breakpoints are localised within the TCR delta gene although they may also involve TCR alpha J and rarely TCR alpha V. The 3' part of the TCR alpha gene is relocated downstream of the c-myc protooncogene. The c-myc oncogene is not structurally altered.
Transcript	detection of TCR alpha rearrangements is hampered by the large number of J segments

Note	no fusion protein but promoter exchange
Description	high levels of electrophoretically normal p64 and p67 c-myc proteins are detected and both products keep their instability. Preferential utilization of P2 is maintained.
Oncogenesis	the activation of the gene myc is likely to result from its juxtaposition to the enhancer element of the TCR alpha gene with stimulates constitutive synthesis of normal c-myc.