title: Three cases of rare salivary gland tumours: a molecular study of TP53, CDKN2A/ARF, RAS, BRAF, PTEN, MAPK2 and EGFR genes.
abstract: Salivary gland tumours are rare tumours characterized by histopathologic complexity and a wide variety of morphologic features. Studies on genetic changes in different histological subtypes of salivary gland tumours are important to better understand molecular pathogenetic mechanisms and to identify diagnostic and prognostic markers. Data are even more scanty dealing with unusual subtypes of these tumours. The aim of the present study was to analyse two high grade transformation adenoid cystic carcinomas (hgACC) and one hybrid tumour in order to identify, by mutational and microsatellite analysis, genetic alterations in TP53, CDKN2A/ARF, RAS, BRAF, PTEN, MAPK2 and EGFR genes. The two hgACCs showed snps missense in RAS genes and alterations with allelic instability in CDKN2A/ARF; moreover, a double mutation in TP53 was detected in one case. The hybrid tumour showed alterations in CDKN2A/ARF gene and snps missense in NRAS genes. Our data suggest that CDKN2A/ARF pathway might be involved in pathogenesis of the salivary gland tumours analysed. Further molecular analyses of these very rare tumours are necessary to better understand the role of other genetic alterations detected in our study.
authors.affiliation: National Centre for Rare Diseases, Istituto Superiore di Sanità, Via Regina Elena 299, 00161 Rome, Italy. vincenzo.falbo@iss.it
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Falbo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Floridia
authors.forename: Federica
authors.initials: F
authors.lastname: Censi
authors.forename: Manuela
authors.initials: M
authors.lastname: Marra
authors.forename: Maria P
authors.initials: MP
authors.lastname: Foschini
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
mesh_terms: D000368:Aged; D000483:Alleles; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D019950:Mitogen-Activated Protein Kinase 1 / Q000235:genetics*; D008957:Models, Genetic; D020125:Mutation, Missense; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012468:Salivary Gland Neoplasms / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics*
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D066246:ErbB Receptors; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D019950:Mitogen-Activated Protein Kinase 1; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human; D018631:ras Proteins