Mitchell Brendon, Dhingra Jagdish K, Mahalingam Meera
*University of Florida College of Medicine, Gainesville, FL †Department of Otolaryngology, Tufts Medical center, Boston, MA ‡Dermatopathology Section, Department of Pathology and Laboratory Medicine, VA Consolidated Laboratories, West Roxbury, MA.
Adv Anat Pathol. 2016 Jul;23(4):244-71. doi: 10.1097/PAP.0000000000000113.
The increased prevalence of BRAF mutations in thyroid carcinoma and primary cutaneous melanoma (PCM) hint that dysregulation of BRAF might contribute to the noted association between PCM and thyroid carcinoma. A recent study evaluating the rate of BRAFV600E mutations among patients who had been diagnosed with primary papillary thyroid carcinoma (PTC) and PCM showed that patients with either PCM or PTC were at an increased risk of developing the other as a second primary malignant neoplasm. Furthermore, the authors noted that samples from patients suffering from both malignancies exhibited a higher rate of incidence of the BRAFV600E mutation, compared with patients not suffering from both malignancies. These studies support the hypothesis that the pathogenesis of these 2 malignancies might share a conserved molecular pattern associated with dysregulation of the BRAF protein. One mechanism through which BRAF might contribute to PCM and thyroid carcinoma progression is through induction of epithelial-mesenchymal transition (EMT). Specifically, the Snail/E-cadherin axis has been demonstrated as a pathway dysregulated by BRAF, leading to EMT in both malignancies. Our analysis focuses on the results of these recent investigations, and through a review of select molecules relevant to EMT, looks to provide a context by which to better understand the relevance and role of stromal-parenchymal signaling and the BRAF mutation in the pathogenesis of PTC and PCM.
BRAF突变在甲状腺癌和原发性皮肤黑色素瘤(PCM)中的患病率增加,这表明BRAF失调可能与PCM和甲状腺癌之间的显著关联有关。最近一项评估被诊断为原发性乳头状甲状腺癌(PTC)和PCM患者中BRAFV600E突变率的研究表明,患有PCM或PTC的患者发生另一种作为第二原发性恶性肿瘤的风险增加。此外,作者指出,与未患这两种恶性肿瘤的患者相比,患有这两种恶性肿瘤的患者样本中BRAFV600E突变的发生率更高。这些研究支持这样一种假设,即这两种恶性肿瘤的发病机制可能共享与BRAF蛋白失调相关的保守分子模式。BRAF可能促进PCM和甲状腺癌进展的一种机制是通过诱导上皮-间质转化(EMT)。具体而言,Snail/E-钙黏蛋白轴已被证明是一条受BRAF失调影响的途径,导致这两种恶性肿瘤中都发生EMT。我们的分析聚焦于这些最新研究的结果,并通过回顾与EMT相关的特定分子,试图提供一个背景,以便更好地理解基质-实质信号传导和BRAF突变在PTC和PCM发病机制中的相关性和作用。