Trovisco Vítor, Soares Paula, Soares Ricardo, Magalhães João, Sá-Couto Pedro, Sobrinho-Simões Manuel
Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
Hum Pathol. 2005 Jun;36(6):694-7. doi: 10.1016/j.humpath.2005.04.011.
BRAF 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: BRAF(V600E) is associated with conventional PTC and with histological variants of PTC displaying a prominent papillary growth pattern, whereas BRAF(K601E) 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 (BRAF(VK600-1E)), 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 BRAF(VK600-1E) and such PTC histotype.
BRAF基因突变在甲状腺乳头状癌（PTC）中经常被检测到。此外，突变类型与PTC组织学类型之间存在密切关联：BRAF（V600E）与传统PTC以及呈现显著乳头状生长模式的PTC组织学变体相关，而BRAF（K601E）与PTC的滤泡变体相关。我们报告了在一例主要呈实性生长模式的PTC病例中检测到一种新的BRAF三联体缺失。该缺失导致BRAF激活区中的缬氨酸和赖氨酸被谷氨酸取代（BRAF（VK600 - 1E）），从而部分模拟了先前描述的两种BRAF突变。我们的研究强化了某些类型的BRAF突变与某些PTC组织学类型之间存在密切关系这一观点。有必要对更多实性变体PTC病例进行遗传学研究，以确定BRAF（VK600 - 1E）的出现与这种PTC组织学类型之间是否存在显著关联。
