title: Survey of 548 oncogenic fusion transcripts in thyroid tumors supports the importance of the already established thyroid fusions genes.
abstract: Neoplasms frequently present structural chromosomal aberrations that can alter the level of expression of a protein or to the expression of an aberrant chimeric protein. In the thyroid, the PAX8-PPARG fusion is present in the neoplastic lesions that have a follicular architecture-follicular thyroid carcinoma (FTC) and follicular variant of papillary thyroid carcinoma (FVPTC), and less frequently in follicular thyroid adenoma (FTA), while the presence of RET/PTC fusions are largely restricted to papillary thyroid carcinoma (PTC). The ability to detect fusion genes is relevant for a correct diagnosis and for therapy. We have developed a new fusion gene microarray-based approach for simultaneous analysis of all known and predicted fusion gene variants. We did a comprehensive screen for 548 known and putative fusion genes in 27 samples of thyroid tumors and three positive controls-one thyroid cancer cell line (TPC-1) and two PTCs with known CCDC6-RET (alias RET/PTC1) fusion gene, using this microarray. Within the thyroid tumors tested, only well known, previously reported fusion genes in thyroid oncology were identified. Our results reinforce the pathogenic role played by RET/PTC1, RET/PTC3, and PAX8-PPARG fusion genes in thyroid tumorigenesis.
authors.affiliation: Department of Cancer Prevention, Institute for Cancer Research, Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Celestino
authors.forename: Eva
authors.initials: E
authors.lastname: Sigstad
authors.forename: Marthe
authors.initials: M
authors.lastname: Løvf
authors.forename: Gard O S
authors.initials: GO
authors.lastname: Thomassen
authors.forename: Krystyna K
authors.initials: KK
authors.lastname: Grøholt
authors.forename: Lars H
authors.initials: LH
authors.lastname: Jørgensen
authors.forename: Aasmund
authors.initials: A
authors.lastname: Berner
authors.forename: Patrícia
authors.initials: P
authors.lastname: Castro
authors.forename: Ragnhild A
authors.initials: RA
authors.lastname: Lothe
authors.forename: Trine
authors.initials: T
authors.lastname: Bjøro
authors.forename: Manuel
authors.initials: M
authors.lastname: Sobrinho-Simões
authors.forename: Paula
authors.initials: P
authors.lastname: Soares
authors.forename: Rolf I
authors.initials: RI
authors.lastname: Skotheim
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000328:Adult; D000368:Aged; D002277:Carcinoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002291:Carcinoma, Papillary; D002869:Chromosome Aberrations; D005260:Female; D050939:Gene Fusion; D006801:Humans; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D000077273:Thyroid Cancer, Papillary; D013961:Thyroid Gland / Q000378:metabolism / Q000473:pathology*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D015514:Oncogene Proteins, Fusion; C551995:PAX8-PPARgamma fusion protein, human; D011505:Protein-Tyrosine Kinases; C093573:ret-PTC fusion oncoproteins, human