Atlas of Genetics and Cytogenetics in Oncology and Haematology
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, 5-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 |
| The Journal of pathology. 1985 ; 146 (1) : 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, Rijer E, Astrm AK, Meyen E, Stenman G, Van de Ven WJ |
| Nature genetics. 1997 ; 15 (2) : 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. |
| Astrm AK, Voz ML, Kas K, Rijer E, Wedell B, Mandahl N, Van de Ven W, Mark J, Stenman G |
| Cancer research. 1999 ; 59 (4) : 918-923. |
| PMID 10029085 |
| Fusion oncogenes and tumor type specificity--insights from salivary gland tumors. |
| Stenman G |
| Seminars in cancer biology. 2005 ; 15 (3) : 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 (9) : 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/Genes/SalivAdenTCEA1PLAG1ID5430.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:09:08 2008 |
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