Head and Neck: Pleomorphic salivary gland adenoma with ins(8)(q12;q11q11) TCEA1/PLAG1
2007-04-01 Julia Asp , Goran Stenman Affiliation1.Molecular Cell Biology, Regenerative Medicine, Department of Clinical Chemistry, Transfusion Medicine, Institute of Biomedicine, Bruna Straket 16, Sahlgrenska University Hospital, 413 45 Goteborg, Sweden.
Cytogenetics
Cytogenetics molecular
ins(8)(q12.1q11.23q11.23).
Genes Involved and Proteins
Gene name
TCEA1 (transcription elongation factor A1)
Location
8q11.23
Note
An intronless, ubiquitously expressed pseudogene designated TCEA1P2 or SII is located at 3p22-p21.3.
Dna rna description
The gene spans about 56 kb and includes 10 exons. Two alternative splicing forms, with and without exon 2, has been detected, yielding transcript sizes of 2784 bp and 2721 bp, respectively.
Protein description
The gene codes for two proteins of 301 amino acids (aa) and 280 aa. They contain an N-terminal conserved TFIIS-I domain, a TFS2M domain, and a C-terminal TFIIS domain.
Gene name
PLAG1 (Pleomorphic adenoma gene 1)
Location
8q12.1
Dna rna description
The gene spans about 50 kb and includes 5 exons. The size of the transcript is about 7.3 kb. Two splicing forms of RNA have been found, with or without exon 2.
Protein description
500 aa, 74 kDa. The gene encodes a zinc finger protein with two putative nuclear localization signals. It contains a conserved SFP1 domain (aa 58-139), which is a putative transcriptional repressor regulating G2/M transition.
Result of the chromosomal anomaly
Note
The fusion occurs as a result of a cryptic, intrachromosomal rearrangement in tumors with apparently normal karyotypes.
Map of the 8q11.2-q12 region including the PLAG1 and TCEA1 genes (not drawn to scale). Exons are shown as boxes and the start and stop codons are shown as asterisks and arrowheads, respectively. Reprinted partially from publication CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas, Genes Chromosomes Cancer, Vol. 45, No. 9, 2006, 820-828. Copyright 2006 Wiley-Liss, Inc. Reprinted with permission of Wiley-Liss, Inc.
Description
The TCEA1-PLAG1 fusion transcript is formed by fusion of exon 1 of TCEA1 to exon 2 or 3 of PLAG1.
Detection protocole
2) Dual-color FISH and fiber-FISH on metaphase chromosomes using the BAC clones RP11-140I16 (PLAG1) and RP11-410P17 (TCEA1) as probes.
Expression localisation
Nucleus.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16736500 | 2006 | CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. | Asp J et al |
| 10029085 | 1999 | Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. | Aström AK et al |
| 4009321 | 1985 | Salivary gland tumours. A review of 2410 cases with particular reference to histological types, site, age and sex distribution. | Eveson JW et al |
| 9020842 | 1997 | Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations. | Kas K et al |
| 15826837 | 2005 | Fusion oncogenes and tumor type specificity--insights from salivary gland tumors. | Stenman G et al |
Citation
Julia Asp ; Goran Stenman
Head and Neck: Pleomorphic salivary gland adenoma with ins(8)(q12;q11q11) TCEA1/PLAG1
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5430/head-and-neck-pleomorphic-salivary-gland-adenoma-with-ins(8)(q12
