title: High prevalence of B-RAF mutation in papillary carcinoma of the thyroid in north-east Italy.
abstract: B-RAF V600E mutation is frequently observed in several tumors, including papillary thyroid carcinomas (PTCs), where it is considered of potential diagnostic and prognostic value. The reported prevalence of B-RAF mutation in PTCs in different Italian populations varies from 14% to 69%. The authors investigate the prevalence and utility of the B-RAF V600E mutation in a series of 91 fine needle aspiration biopsies (FNABs) of the thyroid and in 60 histologically proven PTCs in a well-defined north Italian population. In their series, the B-RAF mutation was detected in 43 (72%) PTCs and was more frequent in classic (34 out of 44, 77%) versus variant follicular PTCs (PTCVF; 9 out of 16, 56%). In all, 41 (46%) FNABs showed B-RAF mutation and corresponded to histologically proven PTCs (33 classic type and 8 PTCVF), which had been cytologically classified as malignant (28 cases), atypical/suspicious (10), inadequate (1), and benign (2). B-RAF mutations were never seen in non-PTC/ PTCVF FNAB cases, implying a 100% positive predictive value.These data demonstrate a high prevalence of B-RAF mutations in the present study population, underscoring the possibility of strong regional differences in B-RAF mutation prevalence in PTCs and further confirming its high diagnostic value on FNAB.
authors.affiliation: Santa Chiara Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Girlando
authors.forename: Lucia Veronica
authors.initials: LV
authors.lastname: Cuorvo
authors.forename: Mariella
authors.initials: M
authors.lastname: Bonzanini
authors.forename: Luca
authors.initials: L
authors.lastname: Morelli
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Amadori
authors.forename: Paolo
authors.initials: P
authors.lastname: Dalla Palma
authors.forename: Mattia
authors.initials: M
authors.lastname: Barbareschi
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D044963:Biopsy, Fine-Needle; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology; D018265:Carcinoma, Papillary, Follicular / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics* / Q000378:metabolism; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology; D013965:Thyroidectomy
chemical_list: D014408:Biomarkers, Tumor; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf