1. Detection of RET/PTC, TRK and BRAF mutations in preoperative diagnosis of thyroid nodules with indeterminate cytological findings
- Author
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Gianfranco Fenzi, Anna Guerra, Angelo Raggioli, Maria Rosaria Sapio, Giancarlo Troncone, Vincenzo Marotta, Manuela Motta, Paolo Piero Limone, Mario Vitale, Alessia Caleo, Maurilio Deandrea, Guido Rossi, D. Posca, SAPIO M., R, Posca, D, Raggioli, A, Guerra, A, Marotta, V, Deandrea, M, Motta, M, LIMONE P., P, Troncone, Giancarlo, Caleo, A, Rossi, Guido, Fenzi, Gianfranco, and Vitale, Mario
- Subjects
Thyroid nodules ,TRK ,Proto-Oncogene Proteins B-raf ,medicine.medical_specialty ,Pathology ,endocrine system diseases ,Endocrinology, Diabetes and Metabolism ,DNA Mutational Analysis ,Carcinoma, Papillary, Follicular ,RET/PTC ,Sensitivity and Specificity ,BRAF ,thyroid ,Diagnosis, Differential ,Endocrinology ,Internal medicine ,Biopsy ,medicine ,Carcinoma ,Humans ,Thyroid Neoplasms ,Thyroid Nodule ,Follicular thyroid cancer ,Gene Rearrangement ,Suspicious for Malignancy ,medicine.diagnostic_test ,business.industry ,Reverse Transcriptase Polymerase Chain Reaction ,Thyroid ,Biopsy, Needle ,Proto-Oncogene Proteins c-ret ,Receptor Protein-Tyrosine Kinases ,Gene rearrangement ,Oncogenes ,medicine.disease ,Carcinoma, Papillary ,medicine.anatomical_structure ,business ,V600E - Abstract
Background Fine-needle aspiration biopsy (FNAB) is the primary means to distinguish benign from malignant nodules and select patients for surgery. However, adjunctive diagnostic tests are needed because in 20-40% of cases the FNAB result is uncertain. Objective We investigated whether a search for the oncogenes RET/PTC, TRK and BRAF(V600E) in thyroid aspirates could refine an uncertain diagnosis. Patients and methods A total of 132 thyroid aspirates, including colloid nodules, inadequate samplings, indeterminate and suspicious for malignancy were analysed by reverse transcription polymerase chain reaction (RT-PCR) and mutant allele-specific amplification techniques for the presence of oncogenes. Results No oncogenes were detected in 48 colloid nodules, 46 inadequate and 19 indeterminate FNABs, then confirmed to be benign at histology. No oncogenes were detected in one follicular thyroid cancer (FTC) with indeterminate cytology. Five out of six papillary thyroid cancers (83%) with FNAB suspicious for malignancy were correctly diagnosed by the presence of oncogenes. Among these, four (67%) contained the BRAF mutation and one (17%) contained RET/PTC-3. On final analysis, no false-positive results were reported in 131 samples and five out of seven carcinomas (71%) were correctly diagnosed. The finding of oncogenes in FNAB specimens suspicious for malignancy guided the extent of surgical resection, changing the surgery from diagnostic to therapeutic in five cases. Conclusions Detection of RET/PTC, TRK and BRAF(V600E) in FNAB specimens is proposed as a diagnostic adjunctive tool in the evaluation of thyroid nodules with suspicious cytological findings.
- Published
- 2007