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

Written2007-04Julia Asp, Goran Stenman
Molecular Cell Biology, Regenerative Medicine, Department of Clinical Chemistry, Transfusion Medicine, Institute of Biomedicine, Bruna Straket 16, Sahlgrenska University Hospital, 413 45 Goteborg, Sweden.

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ICD-Topo C079-C081,C088-C089 SALIVARY GLAND
ICD-Morpho 8940/0 Pleomorphic adenoma
Atlas_Id 5431
Phylum Head and Neck: Salivary gland::Pleomorphic adenoma
WHO/OMS Classification Head and Neck

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 NameCHCHD7 (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 NamePLAG1 (Pleomorphic adenoma gene 1)
Location 8q12.1
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.


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
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, Röijer E, Aström AK, Meyen E, Stenman G, Van de Ven WJ
Nature genetics. 1997 ; 15 (2) : 170-174.
PMID 9020842
Fusion oncogenes and tumor type specificity--insights from salivary gland tumors.
Stenman G
Seminars in cancer biology. 2005 ; 15 (3) : 224-235.
PMID 15826837
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 (6) : 1094-1104.
PMID 15177562


This paper should be referenced as such :
Asp, Julia ; Stenman, Goran
Head, Neck: Pleomorphic salivary gland adenoma with inv(8)(q12q12) (CHCHD7/PLAG1)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):351-352.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 inv(8)(q12q12) CHCHD7/PLAG1

External links

Mitelman database inv(8)(q12q12) [CaseList]     inv(8)(q12q12) [Transloc - MCList]   CHCHD7/PLAG1 Fusion - MCList]
arrayMap Topo ( C07,C8,C08) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionCHCHD7 (8q12.1) PLAG1 (8q12.1)    [fusion1087] [fusion1088] [fusion1089]
TICdbCHCHD7/PLAG1    CHCHD7 (8q12.1) PLAG1 (8q12.1)
Disease databaseHead and Neck: Pleomorphic salivary gland adenoma with inv(8)(q12q12) CHCHD7::PLAG1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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