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

Artikel i vetenskaplig tidskrift
Författare Julia Asp
Fredrik Persson
Maria Kost-Alimova
Göran Stenman
Publicerad i Genes, chromosomes & cancer
Volym 45
Nummer/häfte 9
Sidor 820-8
ISSN 1045-2257
Publiceringsår 2006
Publicerad vid Institutionen för biomedicin, avdelningen för patologi
Sidor 820-8
Språk en
Länkar dx.doi.org/10.1002/gcc.20346
Ämnesord Adenoma, genetics, Adult, Aged, Chromosome Aberrations, Chromosomes, Human, Pair 8, DNA-Binding Proteins, genetics, Female, Humans, Male, Middle Aged, Neoplasm Proteins, genetics, Oncogene Proteins, Fusion, genetics, Proteins, genetics, Salivary Gland Neoplasms, genetics, Transcriptional Elongation Factors, genetics, Translocation, Genetic
Ämneskategorier Patologi


Pleomorphic salivary gland adenomas are characterized by recurrent chromosome rearrangements of 8q12, leading to activation of the PLAG1 oncogene. Here we demonstrate that CHCHD7-PLAG1 is a novel and recurrent gene fusion generated by a cytogenetically cryptic rearrangement in pleomorphic adenomas. CHCHD7 is a newly identified member of a multifamily of proteins containing a conserved (coiled coil 1)-(helix 1)-(coiled coil 2)-(helix 2) domain. Northern blot analysis revealed that the gene is ubiquitously expressed. Its biological function is unknown and the gene has hitherto not been associated with neoplasia. CHCHD7 and PLAG1 are located head-to-head about 500 bp apart in 8q12. Molecular analyses of 27 tumors revealed CHCHD7-PLAG1 fusions in three tumors, two of which had t(6;8) and t(8;15) translocations as the sole anomalies and one a normal karyotype. FISH analyses of interphase nuclei and nuclear chromatin fibers of a fourth adenoma with a normal karyotype revealed that a second fusion partner gene, TCEA1, located about 2 Mb centromeric to PLAG1, also is fused to PLAG1 as a result of a cryptic 8q rearrangement. The breakpoints in both fusions occur in the 5'-noncoding regions of the genes, leading to activation of PLAG1 by promoter swapping/substitution. Western blot and immunohistochemical analyses demonstrated that the PLAG1 protein was overexpressed in epithelial, myoepithelial, and mesenchymal-like tumor cells in tumors with both fusions. Our findings further emphasize the significance of PLAG1 activation in pleomorphic adenomas and demonstrate that the gene is more frequently activated than previously anticipated.

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