ECE2015 Oral Communications Thyroid (5 abstracts)
The usefulness of determining the presence of BRAF (V600E) mutation in fine needle aspiration cytology of thyroid nodules cells
Aldona Kowalska 1 , Janusz Kopczynski 2 , Artur Kowalik 3 , Danuta Gasior-Perczak 1 , Iwona Palyga 1 , Katarzyna Lizis-Kolus 1 , Dariusz Waligorski 1 , Dorta Szyska-Skrobot 1 , Agnieszka Walczyk 1 , Stefan Hurej 1 , Agnieszka Chil 2 , Renata Chodurska 3 , Malgorzata Chlopek 3 , Elzbieta Wypiorkiewicz 3 , Ewelina Nowak 3 & Stanislaw Gozdz 4
1Department of Endocrinology, Kielce, Poland; 2Department of Neoplasm Pathology, Kielce, Poland; 3Department of Molecular Diagnostics, Kielce, Poland; 4Chemotherapy Clinic, Kielce, Poland.
Introduction: Fine needle aspiration cytology (FNACC) is the basic tool used in the diagnosis of thyroid cancer (TC) in nodular goitre. FNACC does not allow for the establishment of a clear diagnosis in 15–30% of cases (mainly follicular lesions). Molecular biology techniques can be useful, allowing for the detection, in FNACC smears, of the known mutations involved in the oncogenesis.
Aim: To evaluate the usefulness of the detection of the BRAF mutation in FNAC in the early diagnosis of TC.
Material and methods: The study involved 1590 consecutive patients examined for 2 years and 2290 FNACC were performed. The FNAC results were classified according to the Bethesda system. In the case of the cytological results group 3,4,5 the molecular analysis was performed in order to detect BRAF mutation using the combination of Sanger sequencing, ASA-PCR and qPCR techniques. All the patients with BRAF mutation were operated on.
Results: Out of 2290 FNACC in groups 3,4,5 there were classified 106,29,12 respectively. Molecular analysis showed the presence of the BRAF mutation in a total of 12 cases (8.2%): three positive cytopathological results out of 106- in group 3; 0 out of 29 in group 4, and 9 positive out of 12- in group 5. Histopathological studies confirmed the presence of PTC in all the 12 patients with BRAF mutation present.
Conclusions: The presence of BRAF mutation in FNACC material is always associated with the presence of PTC, however from the clinical point of view the confirmation of the presence of mutations is of little help in early diagnosis. Revealing the BRAF mutation has resulted in a change of procedure only in the case of three patients, with cytological group 3, in the remaining nine cases from group 5 – the cytology procedure was enough to indicate those patients eligible for surgery.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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