Frequency of BRAF T1796A mutation in papillary thyroid carcinoma relates to age of patient at diagnosis and not to radiation exposure

• DOI: 10.1002/path.1736
• Publication Date: 2005-02-15T16:16:59Z
• Authors: Ned Powell; Steve Jeremiah; Mariko Morishita; Ed Dudley; Jackie Bethel; Tetyana Bogdanova; Mykola Tronko; Gerry Thomas
• Keywords: Adult; Gene Rearrangement; Proto-Oncogene Proteins B-raf; Neoplasms, Radiation-Induced; Adolescent; Age Factors; 610; Middle Aged; Carcinoma, Papillary; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; 616; Mutation; Humans; Thyroid Neoplasms; Child; Radioactive Hazard Release; Ukraine; Polymorphism, Restriction Fragment Length; Aged

AbstractIn this study, the frequency of BRAF mutation was investigated in a series of 67 cases of papillary thyroid cancer (PTC) in patients from Ukraine. Thirty‐two patients were aged 30 years or older at the time of diagnosis and 35 were under 16. Tumour was microdissected from paraffin wax‐embedded sections, DNA extracted, and the presence of the BRAF T1796A mutation demonstrated by two different methods: PCR followed by restriction enzyme digestion or primer extension assay and detection using MALDI‐TOF mass spectrometry. Eighteen (58%) of the adult cases, but only one of the 35 cases aged less than 16 harboured a BRAF T1796A mutation. There was complete agreement between the two methods used, suggesting that the MALDI‐TOF assay is a robust alternative to conventional mutation analysis. RET rearrangement was also examined in the young cohort. The overall frequency of RET rearrangement was 45.7%. Eight of the younger group of patients were born after 1 December 1986 and were therefore not exposed to radioiodine in fallout from Chernobyl. None of the PTCs from these eight patients were positive for BRAF mutation. The frequency of RET rearrangement was 44% in the 27 cases exposed to radiation and 50% in the eight not exposed. These results suggest that the different molecular biological profiles observed are associated with the age of the patient at diagnosis with PTC, rather than being associated with radiation exposure. Copyright © 2005 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.