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BRAF mutations in an Italian cohort of thyroid cancers
Author(s) -
Fugazzola Laura,
Mannavola Deborah,
Cirello Valentina,
Vannucchi Guia,
Muzza Marina,
Vicentini Leonardo,
BeckPeccoz Paolo
Publication year - 2004
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.2004.02089.x
Subject(s) - thyroid carcinoma , thyroid , pathology , transversion , germline mutation , point mutation , medicine , mutation , follicular cell , exact test , cancer research , biology , oncology , gene , genetics
Summary objective Recently, a somatic point mutation of the BRAF gene (V599E) has been identified as the most common genetic event in papillary thyroid carcinoma (PTC) with a variable frequency (about 25–70%) in different series from USA, Japan, Portugal and Ukraine. design In the present study, the genetic analysis of BRAF in an Italian cohort of 65 thyroid tumours with corresponding normal tissues and 21 thyroid benign disorders is reported. methods For BRAF analysis, the somatic DNA was PCR amplified by means of specific intronic primers and PCR products were directly sequenced. Statistical analyses were obtained by means of Fisher's exact test. results All mutations detected involved a T > A transversion at 1796 (V599E) and were heterozygous. Overall, BRAF V599E mutation was found in 18/56 (32·1%) PTCs. According to the histological type of the tumour, the mutation was present in 38·3% of cases of conventional PTC (18/47), in 0/6 follicular variant of PTC, in 0/3 oncocytic variant of PTC. No BRAF mutations were detected either in five follicular carcinomas, or in four poorly differentiated or undifferentiated cancers or in benign thyroid disorders. No statistically significant correlation of BRAF mutation with patient age and gender, with multicentricity of the tumour, with the lymphocytic infiltration of the tissue, with the stage and with the recurrence rate, was found. BRAF V599E tended to be associated, although not significantly, with a greater volume and extension of the tumour and with lymph‐nodal metastases at surgery. conclusions In conclusion, the present study on the first Italian series of thyroid cancers shows a frequency of 38·3% of BRAF V599E in the classical variant of PTC, confirming the key role of this mutation in promoting tumourigenesis.