Genetic alterations in thyroid tumours from patients irradiated in childhood for tinea capitis treatment.

Genetic alterations in thyroid tumours from patients irradiated in childhood for tinea capitis treatment. Eur J Endocrinol. 2013 Aug 21; Authors: Boaventura P, Pereira D, Celestino R, Mendes A, Nakasawa T, Teixeira-Gomes J, Sobrinho-Simoes M, Soares P Abstract OBJECTIVE - EXPOSURE TO IONIZING RADIATION AT YOUNG AGE IS THE STRONGEST RISK FACTOR FOR THE OCCURRENCE OF PAPILLARY THYROID CARCINOMA (PTC). RET/PTC REARRANGEMENTS ARE THE MOST FREQUENT GENETIC ALTERATIONS ASSOCIATED WITH RADIATION-INDUCED PTC, WHEREAS BRAF AND RAS MUTATIONS AND PAX8-PPARG REARRANGEMENT HAVE BEEN ASSOCIATED WITH SPORADIC PTC. WE DECIDED TO SEARCH FOR SUCH GENETIC ALTERATIONS IN PTCS OF PATIENTS SUBJECTED IN THE CHILDHOOD TO SCALP IRRADIATION.DESIGN - WE STUDIED 67 THYROID TUMOURS FROM 49 INDIVIDUALS IRRADIATED IN CHILDHOOD FOR TINEA CAPITIS SCALP EPILATION: 36 malignant (12 cases of conventional PTC - cPTC, 2 cPTC metastases, 20 cases of follicular variant PTC - FVPTC, one oncocytic variant of PTC and one follicular carcinoma) and 31 follicular adenomas (FTA).Methods - The lesions were screened for the BRAFV600E and NRAS mutations and for RET/PTC and PAX8-PPARG rearrangements.Results - BRAFV600E mutation was detected in 7 out of 14 (50%) cPTC and 2 out of 20 FVPTC (10%) (p=0.019). NRAS mutation was present in one case of FVPTC (5%). RET/PTC1 rearrangement was found, by RT-PCR, in one out of 17 cases (5.9%) and by FISH in 2 out of 6 cases (33%). PAX8-PPARG rearrangement ...
Source: European Journal of Endocrinology - Category: Endocrinology Authors: Tags: Eur J Endocrinol Source Type: research