Searching for RET/PTC rearrangements and BRAF V599E mutation in thyroid aspirates might contribute to establish a preoperative diagnosis of papillary thyroid carcinoma

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Abstract

Objective: Searching for multiple molecular markers in thyroid aspirates appears to be a promising approach for establishing a preoperative diagnosis of papillary thyroid carcinoma (PTC). Methods: Based on this hypothesis, a total of 63 samples from 55 patients, were collected at random. RNA was extracted from the residue cells inside the needle used for fine needle aspiration cytology (FNAC) and thereafter molecular analysis was carried out both for RET rearrangements (type 1, 2, 3) and BRAF codon 599 mutation molecule. Results were compared with the cytological and histopathological diagnoses in 24 patients submitted to surgery. Results: 58% PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25%) presented a RET/PTC rearrangement; three cases of PTCs (25%) presented a BRAF V599E mutation and in one case (8%) both alterations were identified. Conclusions: The present results suggest that searching for multiple molecular markers in thyroid aspirates may enhance the accuracy of FNAC and refine preoperative diagnosis of PTC.
Original languageEnglish
Pages (from-to)27-31
Number of pages5
JournalCytopathology
Volume16
Issue number1
DOIs
Publication statusPublished - 2005

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Factor IX
Thyroid Gland
Mutation
Fine Needle Biopsy
Cell Biology
Codon
Needles
RNA
Papillary Thyroid cancer

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@article{f1c9d4a3736146578acd1319166be5cd,
title = "Searching for RET/PTC rearrangements and BRAF V599E mutation in thyroid aspirates might contribute to establish a preoperative diagnosis of papillary thyroid carcinoma",
abstract = "Objective: Searching for multiple molecular markers in thyroid aspirates appears to be a promising approach for establishing a preoperative diagnosis of papillary thyroid carcinoma (PTC). Methods: Based on this hypothesis, a total of 63 samples from 55 patients, were collected at random. RNA was extracted from the residue cells inside the needle used for fine needle aspiration cytology (FNAC) and thereafter molecular analysis was carried out both for RET rearrangements (type 1, 2, 3) and BRAF codon 599 mutation molecule. Results were compared with the cytological and histopathological diagnoses in 24 patients submitted to surgery. Results: 58{\%} PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25{\%}) presented a RET/PTC rearrangement; three cases of PTCs (25{\%}) presented a BRAF V599E mutation and in one case (8{\%}) both alterations were identified. Conclusions: The present results suggest that searching for multiple molecular markers in thyroid aspirates may enhance the accuracy of FNAC and refine preoperative diagnosis of PTC.",
keywords = "BRAF mutation, CHILDREN, NODULES, REVERSE TRANSCRIPTION-PCR, HIGH PREVALENCE, CANCER, TUMORS, FINE-NEEDLE-ASPIRATION, TYROSINE KINASE, ACTIVATION, fine needle aspiration cytology, papillary thyroid carcinoma, RT-PCR, RET rearrangements",
author = "Sobrinho, {Lu{\'i}s Adriano das Neves Gon{\cc}alves} and Bugalho, {Maria Jo{\~a}o Guerreiro Martins}",
year = "2005",
doi = "10.1111/j.1365-2303.2004.00223.x",
language = "English",
volume = "16",
pages = "27--31",
journal = "Cytopathology",
issn = "0956-5507",
publisher = "Blackwell Publishing Ltd",
number = "1",

}

TY - JOUR

T1 - Searching for RET/PTC rearrangements and BRAF V599E mutation in thyroid aspirates might contribute to establish a preoperative diagnosis of papillary thyroid carcinoma

AU - Sobrinho, Luís Adriano das Neves Gonçalves

AU - Bugalho, Maria João Guerreiro Martins

PY - 2005

Y1 - 2005

N2 - Objective: Searching for multiple molecular markers in thyroid aspirates appears to be a promising approach for establishing a preoperative diagnosis of papillary thyroid carcinoma (PTC). Methods: Based on this hypothesis, a total of 63 samples from 55 patients, were collected at random. RNA was extracted from the residue cells inside the needle used for fine needle aspiration cytology (FNAC) and thereafter molecular analysis was carried out both for RET rearrangements (type 1, 2, 3) and BRAF codon 599 mutation molecule. Results were compared with the cytological and histopathological diagnoses in 24 patients submitted to surgery. Results: 58% PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25%) presented a RET/PTC rearrangement; three cases of PTCs (25%) presented a BRAF V599E mutation and in one case (8%) both alterations were identified. Conclusions: The present results suggest that searching for multiple molecular markers in thyroid aspirates may enhance the accuracy of FNAC and refine preoperative diagnosis of PTC.

AB - Objective: Searching for multiple molecular markers in thyroid aspirates appears to be a promising approach for establishing a preoperative diagnosis of papillary thyroid carcinoma (PTC). Methods: Based on this hypothesis, a total of 63 samples from 55 patients, were collected at random. RNA was extracted from the residue cells inside the needle used for fine needle aspiration cytology (FNAC) and thereafter molecular analysis was carried out both for RET rearrangements (type 1, 2, 3) and BRAF codon 599 mutation molecule. Results were compared with the cytological and histopathological diagnoses in 24 patients submitted to surgery. Results: 58% PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25%) presented a RET/PTC rearrangement; three cases of PTCs (25%) presented a BRAF V599E mutation and in one case (8%) both alterations were identified. Conclusions: The present results suggest that searching for multiple molecular markers in thyroid aspirates may enhance the accuracy of FNAC and refine preoperative diagnosis of PTC.

KW - BRAF mutation

KW - CHILDREN

KW - NODULES

KW - REVERSE TRANSCRIPTION-PCR

KW - HIGH PREVALENCE

KW - CANCER

KW - TUMORS

KW - FINE-NEEDLE-ASPIRATION

KW - TYROSINE KINASE

KW - ACTIVATION

KW - fine needle aspiration cytology

KW - papillary thyroid carcinoma

KW - RT-PCR

KW - RET rearrangements

U2 - 10.1111/j.1365-2303.2004.00223.x

DO - 10.1111/j.1365-2303.2004.00223.x

M3 - Article

VL - 16

SP - 27

EP - 31

JO - Cytopathology

JF - Cytopathology

SN - 0956-5507

IS - 1

ER -