Gandolfi Greta, Sancisi Valentina, Piana Simonetta, Ciarrocchi Alessia
Laboratory of Translational Research, Research and Statistic Infrastructure, Azienda Ospedaliera Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
Pathology Unit, Department of Oncology, Azienda Ospedaliera Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
Int J Cancer. 2015 Sep 1;137(5):1001-11. doi: 10.1002/ijc.28976. Epub 2014 May 27.
The BRAF V600E mutation, resulting from the BRAFT1799A transversion, is the most common genetic mutation in papillary thyroid carcinoma (PTC), with a mean frequency close to 50% among all cases. A large number of studies in the past decade have tried to dissect the relevance and the function of the V600E mutation in controlling oncogenesis and progression of thyroid cancer. However, several works published in the latest years have provided new evidence, in partial conflict with the previous knowledge, suggesting the need of reconsidering the meaning of the BRAF V600E mutation in PTC. In this work, we attempt to discuss some of the most recent molecular, preclinical and clinical evidence to construct a more exhaustive model of function for the BRAF V600E in development, progression and therapeutic approach of thyroid cancer.
BRAF V600E突变由BRAF T1799A颠换产生,是甲状腺乳头状癌(PTC)中最常见的基因突变,在所有病例中的平均发生率接近50%。过去十年的大量研究试图剖析V600E突变在控制甲状腺癌发生和进展中的相关性及功能。然而,近年来发表的一些研究提供了新证据,部分与先前认知相冲突,这表明有必要重新审视BRAF V600E突变在PTC中的意义。在这项工作中,我们试图讨论一些最新的分子、临床前和临床证据,以构建一个更详尽的BRAF V600E在甲状腺癌发生、进展和治疗方法中功能的模型。