A new BRAF gene mutation detected in a case of a solid variant of papillary thyroid carcinoma
2005; Elsevier BV; Volume: 36; Issue: 6 Linguagem: Inglês
10.1016/j.humpath.2005.04.011
ISSN1532-8392
AutoresVítor Trovisco, Paula Soares, Ricardo Soares, João Magalhães, Pedro Sá-Couto, Manuel Sobrinho‐Simões,
Tópico(s)S100 Proteins and Annexins
ResumoBRAF gene mutations have been frequently detected in papillary thyroid carcinoma (PTC). Moreover, there is a close association between the type of mutation and the PTC histotype: BRAFV600E is associated with conventional PTC and with histological variants of PTC displaying a prominent papillary growth pattern, whereas BRAFK601E is associated with the follicular variant of PTC. We report the detection of a novel BRAF triplet deletion in a case of PTC displaying a predominantly solid growth pattern. The deletion leads to the replacement of a valine and a lysine by a glutamate in the BRAF activation segment (BRAFVK600-1E), thus mimicking partially the 2 BRAF mutations previously described. Our study reinforces the existence of a close relationship between the occurrence of some types of BRAF mutation and some PTC histotypes. The genetic study of more cases of the solid variant of PTC is necessary to find whether there exists a significant association between the occurrence of BRAFVK600-1E and such PTC histotype.
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