Head and Neck: Pleomorphic salivary gland adenoma with ins(8)(q12;q11q11) (TCEA1-PLAG1)

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Head and Neck: Pleomorphic salivary gland adenoma with ins(8)(q12;q11q11) (TCEA1-PLAG1)

Clinics and Pathology

Disease Pleomorphic salivary gland adenomas (PA) are benign, slow-growing tumors, which show a remarkable degree of morphological diversity. They constitute the most common form of all salivary gland neoplasms and the majority of the PAs occur in the parotid gland, while the remaining tumors are found in the submandibular and minor salivary glands. Although PAs are benign tumors, subsets of these tumors have a tendency to recur and/or undergo malignant transformation.

Cytogenetics

Cytogenetics Molecular ins(8)(q12.1q11.23q11.23).

Genes involved and Proteins

Gene Name TCEA1 (Transcription elongation factor A 1)

Note An intronless, ubiquitously expressed pseudogene designated TCEA1P2 or SII is located at 3p22-p21.3.

Dna / Rna 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 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 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 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

Hybrid Gene
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 1) RT-PCR using total RNA extracted from frozen tumor tissue. The TCEA1-PLAG1 fusion transcript was amplified by nested RT-PCR using the first round primers SII-UP, 5ą-CATGCGGTGGTGGGGGTTGCT-3', and MV5, 5'-CAGGAGAATGAGTAGCCATGTGC-3', and the second round primers S2-764S, 5'-GGGGTCGCTCCTGCTGTGTCT3' and MV6, 5'-TGCACTTGTAGGGCCTCTCTCCTG-3'. Fusion transcripts of 557 bp and 662 bp were detected.
2) Dual-color FISH and fiber-FISH on metaphase chromosomes using the BAC clones RP11-140I16 (PLAG1) and RP11-410P17 (TCEA1) as probes.

Fusion Protein
Expression Localisation Nucleus.

Bibliography

Salivary gland tumours. A review of 2410 cases with particular reference to histological types, site, age and sex distribution.

Eveson JW, Cawson RA.

J Pathol. 1985; 146:51-58.

PMID 4009321

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, Voz ML, Roijer E, Astrom AK, Meyen E, Stenman G, Van de Ven WJ.

Nat Genet. 1997; 15:170-174.

PMID 9020842

Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene.

Astrom AK, Voz ML, Kas K, Roijer E, Wedell B, Mandahl N, Van de Ven W, Mark J, Stenman G.

Cancer Res. 1999; 59:918-923.

PMID 10029085

Fusion oncogenes and tumor type specificity insights from salivary salivary gland tumors.

Stenman G.

Semin Cancer Biol. 2005; 15:224-235.

PMID 15826837

CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.

Asp J, Persson F, Kost-Alimova M, Stenman G.

Genes Chromosomes Cancer. 2006; 45:820-828.

PMID 16736500

REVIEW articles automatic search in PubMed

Last year publications automatic search in PubMed

Contributor(s)

Written 04-2007 Julia Asp, Goran Stenman

Molecular Cell Biology and Regenerative Medicine, Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Bruna Straket 16, Sahlgrenska University Hospital, 413 45 Goteborg, Sweden.

Citation

This paper should be referenced as such :
Asp J, Stenman G . Head and Neck: Pleomorphic salivary gland adenoma with ins(8)(q12;q11q11) (TCEA1-PLAG1). Atlas Genet Cytogenet Oncol Haematol. April 2007 .
URL : http://AtlasGeneticsOncology.org/Tumors/SalivAdenTCEA1PLAG1ID5430.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Apr 17 14:14:49 2008

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Gene Name	TCEA1 (Transcription elongation factor A 1)
Note	An intronless, ubiquitously expressed pseudogene designated TCEA1P2 or SII is located at 3p22-p21.3.
Dna / Rna	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	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	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	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.

Hybrid Gene
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	1) RT-PCR using total RNA extracted from frozen tumor tissue. The TCEA1-PLAG1 fusion transcript was amplified by nested RT-PCR using the first round primers SII-UP, 5ą-CATGCGGTGGTGGGGGTTGCT-3', and MV5, 5'-CAGGAGAATGAGTAGCCATGTGC-3', and the second round primers S2-764S, 5'-GGGGTCGCTCCTGCTGTGTCT3' and MV6, 5'-TGCACTTGTAGGGCCTCTCTCCTG-3'. Fusion transcripts of 557 bp and 662 bp were detected. 2) Dual-color FISH and fiber-FISH on metaphase chromosomes using the BAC clones RP11-140I16 (PLAG1) and RP11-410P17 (TCEA1) as probes.
Fusion Protein
Expression Localisation	Nucleus.

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Written	04-2007	Julia Asp, Goran Stenman
		Molecular Cell Biology and Regenerative Medicine, Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Bruna Straket 16, Sahlgrenska University Hospital, 413 45 Goteborg, Sweden.