RT Journal Article
SR Electronic
T1 NDRG1-PLAG1 and TRPS1-PLAG1 Fusion Genes in Chondroid Syringoma
JF Cancer Genomics - Proteomics
JO Cancer Genomics Proteomics
FD International Institute of Anticancer Research
SP 237
OP 248
DO 10.21873/cgp.20184
VO 17
IS 3
A1 IOANNIS PANAGOPOULOS
A1 LUDMILA GORUNOVA
A1 KRISTIN ANDERSEN
A1 MARIUS LUND-IVERSEN
A1 INGVILD LOBMAIER
A1 FRANCESCA MICCI
A1 SVERRE HEIM
YR 2020
UL http://cgp.iiarjournals.org/content/17/3/237.abstract
AB Background/Aim: Chondroid syringoma is a rare benign tumor emanating from sweat glands. Although rearrangements of the pleomorphic adenoma gene 1 (PLAG1) have been reported in such tumors, information on PLAG1 fusion genes is very limited. Materials and Methods: Cytogenetic, fluorescence in situ hybridization, RNA sequencing, array comparative genomic hybridization, reverse transcription polymerase chain reaction, and Sanger sequencing analyses were performed on two chondroid syringoma cases. Results: Both tumors had structural rearrangements of chromosome 8. An NDRG1-PLAG1 transcript was found in the first tumor in which exon 3 of PLAG1 was fused with exon 1 of NDRG1. A TRPS1-PLAG1 chimeric transcript was detected in the second chondroid syringoma in which exon 2 or exon 3 of PLAG1 was fused with exon 1 of TRPS1. Conclusion: The NDRG1-PLAG1 and TRPS1-PLAG1 resemble other PLAG1 fusion genes inasmuch as the expression of PLAG1 comes under the control of the NDRG1 or TRPS1 promoter.