t(2;3)(p23;q21)

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t(2;3)(p23;q21)

Clinics and Pathology

Disease
Anaplasic large cell lymphoma: translocations involving 2p23 are found in more than half cases of anaplasic large cell lymphoma (ALCL), a high grade non Hodgkin lymphoma (NHL). They involve ALK, and are therefore called ALK+ ALCL.
The most frequent ALK+ ALCL being the the t(2;5)(p23;q35) with NPM1 -ALK fusion protein, which localises both in the cytoplasm and in the nucleus.
The t(2;3)(p23;q21) is very rare., and, like other t(2;Var) involving various partners and ALK, the fusion protein has a cytoplasmic localization; they are therefore called "cytoplasm only" ALK+ ALCL.

Epidemiology only 2 cases to date: a 10 yr old girl and a 19 yr old man.

Clinics ALK+ ALCL without the t(2;5) (so called cytoplasmic only ALK cases) show clinical features similar to those of classical ALK+ ALCL: young age, male predominance, presentation with advanced disease, systemic symptoms, frequent involvement of extranodal sites, and a good prognosis. Nothing in particular is known concerning t(2;3) cases.

Genes involved and Proteins

Gene Name ALK

Location 2p23

Protein 1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor

Gene Name TFG (tropomyosin receptor kinase-fused gene)

Location 3q21

Protein 406 amino acids, 44 kDa; widely expressed

Somatic mutations apart from the TFG-ALK herein described (see below), TFG is also known to de fused to NTRK1ID: 216> in a subset of END_GENE_SHORT

Result of the chromosomal anomaly

Hybrid gene
Description 5' TFG - 3' ALK

Fusion Protein
Description 83 kDa and 96-97 kDa; as the breakpoint in TPM3 was variable , 701 amino acids in the sort er fusion protein, composed of 138 N-term amino acids from TFG, including the cioled-coil oligomerization domain fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein.

Expression Localisation cytoplasmic localisation (in contrast with the t(2;5)(p23;q35) with NPM1-ALK, which localizes both in the cytoplasm and in the nucleus).

External links

Other database t(2;3)(p23;q21) Mitelman database (CGAP - NCBI)

Other database t(2;3)(p23;q21) CancerChromosomes (NCBI)

Other database	t(2;3)(p23;q21)	Mitelman database (CGAP - NCBI)
Other database	t(2;3)(p23;q21)	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

t(1;2)(q21;p23) and t(2;3)(p23;q21): two novel variant translocations of the t(2;5)(p23;q35) in anaplastic large cell lymphoma.

Rosenwald A, Ott G, Pulford K, Katzenberger T, Kˆºhl J, Kalla J, Ott MM, Mason DY, Mˆºller-Hermelink HK

Blood. 1999 ; 94 (1) : 362-364.

PMID 10381534

TRK-fused gene (TFG) is a new partner of ALK in anaplastic large cell lymphoma producing two structurally different TFG-ALK translocations.

Hernˆ°ndez L, Pinyol M, Hernˆ°ndez S, BeˆÝ S, Pulford K, Rosenwald A, Lamant L, Falini B, Ott G, Mason DY, Delsol G, Campo E

Blood. 1999 ; 94 (9) : 3265-3268.

PMID 10556217

CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features.

Stein H, Foss HD, Dˆºrkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B

Blood. 2000 ; 96 (12) : 3681-3695.

PMID 11090048

Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas.

Drexler HG, Gignac SM, von Wasielewski R, Werner M, Dirks WG

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (9) : 1533-1559.

PMID 10994999

Anaplastic large cell lymphomas, Primary systemic (T/Null cell type).

Delsol G, Ralfkiaer E, Stein H, Wright D, Jaffe E

World Health Organization (WHO) Classification of Tumors..

Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma.

Morris SW, Xue L, Ma Z, Kinney MC

British journal of haematology. 2001 ; 113 (2) : 275-295.

PMID 11380391

Contributor(s)

Written 08-2001 Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(2;3)(p23;q21). Atlas Genet Cytogenet Oncol Haematol. August 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/t0203ID1217.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 6 18:02:14 2008

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.

Disease	Anaplasic large cell lymphoma: translocations involving 2p23 are found in more than half cases of anaplasic large cell lymphoma (ALCL), a high grade non Hodgkin lymphoma (NHL). They involve ALK, and are therefore called ALK+ ALCL. The most frequent ALK+ ALCL being the the t(2;5)(p23;q35) with NPM1 -ALK fusion protein, which localises both in the cytoplasm and in the nucleus. The t(2;3)(p23;q21) is very rare., and, like other t(2;Var) involving various partners and ALK, the fusion protein has a cytoplasmic localization; they are therefore called "cytoplasm only" ALK+ ALCL.
Epidemiology	only 2 cases to date: a 10 yr old girl and a 19 yr old man.
Clinics	ALK+ ALCL without the t(2;5) (so called cytoplasmic only ALK cases) show clinical features similar to those of classical ALK+ ALCL: young age, male predominance, presentation with advanced disease, systemic symptoms, frequent involvement of extranodal sites, and a good prognosis. Nothing in particular is known concerning t(2;3) cases.

Gene Name	ALK
Location	2p23
Protein	1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor

Gene Name	TFG (tropomyosin receptor kinase-fused gene)
Location	3q21
Protein	406 amino acids, 44 kDa; widely expressed
Somatic mutations	apart from the TFG-ALK herein described (see below), TFG is also known to de fused to NTRK1ID: 216> in a subset of END_GENE_SHORT

Description	83 kDa and 96-97 kDa; as the breakpoint in TPM3 was variable , 701 amino acids in the sort er fusion protein, composed of 138 N-term amino acids from TFG, including the cioled-coil oligomerization domain fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein.
Expression Localisation	cytoplasmic localisation (in contrast with the t(2;5)(p23;q35) with NPM1-ALK, which localizes both in the cytoplasm and in the nucleus).