Head and Neck: Pleomorphic salivary gland adenoma with inv(8)(q12q12) (CHCHD7/PLAG1)

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Head and Neck: Pleomorphic salivary gland adenoma with inv(8)(q12q12) (CHCHD7/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 inv(8)(q12.1;q12.1)

Genes involved and Proteins

Gene Name CHCHD7 (Coiled-coil-helix-coiled-coil-helix domain containing 7)

Location 8q12.1

Dna / Rna The gene spans about 7 kb and includes 5 exons. Six isoforms of RNA, spliced with or without exon 2, exist with transcript sizes ranging from 1575 bp to 1767 bp.

Protein The protein contains a conserved CHCH domain and is included in a multifamily of proteins which show a strong conservation at the structural level but a low conservation at the amino acid level.

Gene Name PLAG1 (Pleomorphic Adenoma Gene 1)

Location 8q12

Dna / Rna The gene spans 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 amino acids (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 two genes CHCHD7 and PLAG1 are located head-to-head about 500 bp apart in 8q12. The fusion results from a cryptic, paracentric inversion.

Map of the 8q12 region including the CHCHD7 and PLAG1 genes (not drawn to scale). Exons are shown as boxes and the start and stop codons are shown as asterisks and arrowheads, respectively. Breakpoints are shown in red. 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 CHCHD7-PLAG1 fusion transcript is formed by fusion of exon 1 of CHCHD7 to exon 2 or 3 of PLAG1.

Detection RT-PCR using total RNA extracted from frozen tumor tissue. The CHCHD7-PLAG1 gene fusion was detected by amplification of cDNA using the primers CHCHD22S, 5'-GTGAGCCATTGACGTGTTTG-3' located in exon 1 of CHCHD7, and PLAG564AS, 5'-GGTTTCACCACGCTTACGTT3' located in exon 4 of PLAG1. Fusion transcripts of 467 and 362 bp were detected.

Fusion Protein
Description Exon 1 of CHCHD7 fused to either exon 2 or 3 of PLAG1 results in a promoter swapping where the intact coding region of PLAG1 is expressed from a different promoter.

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

C2360, a nuclear protein expressed in human proliferative cytotrophoblasts, is a representative member of a novel protein family with a conserved coiled coil-helix-coiled coil-helix domain.

Westerman BA, Poutsma A, Steegers EA, Oudejans CB.

Genomics. 2004; 83:1094-1104.

PMID 15177562

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 inv(8)(q12q12) (CHCHD7/PLAG1). Atlas Genet Cytogenet Oncol Haematol. April 2007 .
URL : http://AtlasGeneticsOncology.org/Tumors/SalivAdenCHCHD7PLAG1ID5431.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	CHCHD7 (Coiled-coil-helix-coiled-coil-helix domain containing 7)
Location	8q12.1
Dna / Rna	The gene spans about 7 kb and includes 5 exons. Six isoforms of RNA, spliced with or without exon 2, exist with transcript sizes ranging from 1575 bp to 1767 bp.
Protein	The protein contains a conserved CHCH domain and is included in a multifamily of proteins which show a strong conservation at the structural level but a low conservation at the amino acid level.

Gene Name	PLAG1 (Pleomorphic Adenoma Gene 1)
Location	8q12
Dna / Rna	The gene spans 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 amino acids (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 two genes CHCHD7 and PLAG1 are located head-to-head about 500 bp apart in 8q12. The fusion results from a cryptic, paracentric inversion.


	Map of the 8q12 region including the CHCHD7 and PLAG1 genes (not drawn to scale). Exons are shown as boxes and the start and stop codons are shown as asterisks and arrowheads, respectively. Breakpoints are shown in red. 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 CHCHD7-PLAG1 fusion transcript is formed by fusion of exon 1 of CHCHD7 to exon 2 or 3 of PLAG1.
Detection	RT-PCR using total RNA extracted from frozen tumor tissue. The CHCHD7-PLAG1 gene fusion was detected by amplification of cDNA using the primers CHCHD22S, 5'-GTGAGCCATTGACGTGTTTG-3' located in exon 1 of CHCHD7, and PLAG564AS, 5'-GGTTTCACCACGCTTACGTT3' located in exon 4 of PLAG1. Fusion transcripts of 467 and 362 bp were detected.
Fusion Protein
Description	Exon 1 of CHCHD7 fused to either exon 2 or 3 of PLAG1 results in a promoter swapping where the intact coding region of PLAG1 is expressed from a different promoter.
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.