Back to Search
Start Over
Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma
- Source :
- 89 (2004): 5175–5180., info:cnr-pdr/source/autori:Salvatore G, Giannini R, Faviana P, Caleo A, Migliaccio I, Fagin JA, Nikiforov YE, Troncone G, Palombini L, Basolo F, Santoro M./titolo:Analysis of BRAF point mutation and RET%2FPTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma./doi:/rivista:/anno:2004/pagina_da:5175/pagina_a:5180/intervallo_pagine:5175–5180/volume:89
- Publication Year :
- 2004
-
Abstract
- Point mutations in BRAF are genetic hallmarks of papillary thyroid carcinoma (PTC). In this retrospective study, we examined thyroid aspirates and corresponding paraffin-embedded surgical samples for the presence of BRAF mutations. Altogether, we examined 96 cases, including 69 PTCs, 19 follicular adenomas, and eight nontoxic nodular goiters for BRAF; 60 of these samples were also examined for RET/PTC rearrangements. The results were correlated with the cytological diagnosis and the final histopathology. The BRAF mutation (V599E) was detected in 38% of the samples that were PTC on histopathology; RET/PTC was found in 18% of the PTC cases. In all the cases, the presence of the genetic alteration was confirmed in the surgically resected tumor. The identification of BRAF mutation and RET/PTC refined the diagnosis of PTC in five of 15 samples that were considered either indeterminate or insufficient at cytology. No mutation was found in aspirates of follicular adenomas and nontoxic nodular goiters. These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology.
- Subjects :
- Adenoma
Adult
Male
Proto-Oncogene Proteins B-raf
endocrine system
Pathology
medicine.medical_specialty
Oncogene Proteins, Fusion
endocrine system diseases
kinase
Endocrinology, Diabetes and Metabolism
Biopsy, Fine-Needle
Clinical Biochemistry
Biochemistry
BRAF
Thyroid carcinoma
Endocrinology
Internal medicine
Biopsy
Biomarkers, Tumor
Carcinoma
medicine
thyroid cancer
Humans
Point Mutation
Thyroid Neoplasms
neoplasms
Thyroid cancer
Retrospective Studies
Gene Rearrangement
Oncogene Proteins
RET/PTC Rearrangement
medicine.diagnostic_test
business.industry
Biochemistry (medical)
Thyroid
Gene rearrangement
Protein-Tyrosine Kinases
medicine.disease
Carcinoma, Papillary
digestive system diseases
Fine-needle aspiration
medicine.anatomical_structure
Cancer research
Female
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- 89 (2004): 5175–5180., info:cnr-pdr/source/autori:Salvatore G, Giannini R, Faviana P, Caleo A, Migliaccio I, Fagin JA, Nikiforov YE, Troncone G, Palombini L, Basolo F, Santoro M./titolo:Analysis of BRAF point mutation and RET%2FPTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma./doi:/rivista:/anno:2004/pagina_da:5175/pagina_a:5180/intervallo_pagine:5175–5180/volume:89
- Accession number :
- edsair.doi.dedup.....5a6d961480e84140ae5df25e1b844760