title: Molecular profile of hyalinizing trabecular tumours of the thyroid: high prevalence of RET/PTC rearrangements and absence of B-raf and N-ras point mutations.
abstract: Hyalinizing trabecular tumour (HTT) of the thyroid is a neoplasm of follicular derivation that shares several morphological similarities with papillary thyroid carcinoma (PTC). In this study, we investigated the prevalence of B-raf point mutations, RET/PTC rearrangements and N-ras point mutations in a large HTT series (28 samples). Twenty benign thyroid lesions and 10 PTC served as control cases. A high (47%) prevalence of RET/PTC rearrangements was found in HTT. By contrast, neither B-raf nor N-ras mutations were found in HTT. These findings suggest that, although RET/PTC, N-ras, and B-raf proteins may act along the same signalling cascade, the biological and morphological outcome of their oncogenic activation is not completely overlapping. Thus, in clinical practice, the detection of B-raf mutations in a thyroid follicular tumour may prove to be a valuable tool, supplementing histological examination, and allowing a differential diagnosis between PTC and HTT.
authors.affiliation: Istituto di Endocrinologia ed Oncologia Sperimentale del CNR, c/o Dipartimento di Biologia e Patologia Cellulare e Molecolare, University Federico II, via S. Pansini 5, 80131 Naples, Italy.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Salvatore
authors.forename: Gennaro
authors.initials: G
authors.lastname: Chiappetta
authors.forename: Yuri E
authors.initials: YE
authors.lastname: Nikiforov
authors.forename: Myriam
authors.initials: M
authors.lastname: Decaussin-Petrucci
authors.forename: Alfredo
authors.initials: A
authors.lastname: Fusco
authors.forename: J Aidan
authors.initials: JA
authors.lastname: Carney
authors.forename: Massimo
authors.initials: M
authors.lastname: Santoro
mesh_terms: D000328:Adult; D018265:Carcinoma, Papillary, Follicular / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D011905:Genes, ras; D006801:Humans; D008297:Male; D015513:Oncogene Proteins / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D015513:Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases; D048493:Proto-Oncogene Proteins B-raf