t(2;22)(p23;q11.2)

Clinics and Pathology

Disease

Anaplasic large cell lymphoma (ALCL): 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;22)(p23;q11) has so far been described in only 1 case, 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.

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. The t(2;22) case was that of a 12 yrs old girl.

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	MYH9
Location	22q11.2
Protein	codes for the non-muscle myosin II, heavy chain type A. Non-muscle myosin II is involved in motility and cell division
Germinal mutations	in patients with May-Hegglin anomaly and Fechner syndrome
Somatic mutations	MYH9/ALK fusion protein in ALCL (see above)

Result of the chromosomal anomaly

Hybrid gene

Description	5' MYH9 - 3' ALK

Fusion Protein

Description	2201 amino acids, 220 kDa. N term MYH9 fused to the 556 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain), instead of the classic 562 C-term amino acids from ALK seen in other ALK fusion proteins

External links

Other database	t(2;22)(p23;q11.2)	Mitelman database (CGAP - NCBI)
Other database	t(2;22)(p23;q11.2)	CancerChromosomes (NCBI)

Bibliography

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

Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.

Lamant L, Gascoyne RD, Duplantier MM, Armstrong F, Raghab A, Chhanabhai M, Rajcan-Separovic E, Raghab J, Delsol G, Espinos E

Genes, chromosomes & cancer. 2003 ; 37 (4) : 427-432.

PMID 12800156

Contributor(s)

Written	08-2003	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . t(2;22)(p23;q11.2). Atlas Genet Cytogenet Oncol Haematol. August 2003 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0222p23q11D1291.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon May 12 18:12:08 2008

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