Inst. of Neuropathology, University of Bonn Medical Center, 53127 Bonn, Germany.
Neuropathol Appl Neurobiol. 2013 Jun;39(4):417-25. doi: 10.1111/j.1365-2990.2012.01288.x.
Primary melanocytic tumours are uncommon neoplasms of the central nervous system. Although similarities with uveal melanomas have been hypothesized, data on their molecular features are limited.
In this study, we investigated the mutational status of BRAF(V600E) , KIT, GNAQ, GNA11, N-RAS and H-RAS in a series of 19 primary melanocytic tumours of the central nervous system (CNS).
We identified six cases harbouring mutations in the hotspot codon 209 of the GNAQ gene and two cases with mutations in the hotspot codon 209 of the GNA11 gene. Two mutations in codon 61 of N-RAS were also found. In the single strand conformation polymorphism (SSCP) analysis, no shifts corresponding to BRAF(V600E) mutations or suggesting activating mutations in the KIT gene were observed.
In primary melanocytic tumours of the CNS, GNA11 and N-RAS mutations represent a mechanism of MAPK pathway activation alternative to the common GNAQ mutations. On the other hand, BRAF(V600E) mutations and activating KIT mutations seem to be absent or very rare in these tumours.
原发性黑色素细胞瘤是中枢神经系统中罕见的肿瘤。虽然与葡萄膜黑色素瘤有相似之处，但对其分子特征的数据有限。
在这项研究中，我们研究了 BRAF(V600E)、KIT、GNAQ、GNA11、NRAS 和 HRAS 在一系列 19 例中枢神经系统（CNS）原发性黑色素细胞瘤中的突变状态。
我们鉴定了 6 例 GNAQ 基因热点密码子 209 突变的病例和 2 例 GNA11 基因热点密码子 209 突变的病例。还发现了两个 N-RAS 密码子 61 的突变。在单链构象多态性（SSCP）分析中，没有观察到与 BRAF(V600E)突变或 KIT 基因激活突变相对应的移位。
在中枢神经系统的原发性黑色素细胞瘤中，GNA11 和 N-RAS 突变是 MAPK 通路激活的一种机制，与常见的 GNAQ 突变不同。另一方面，BRAF(V600E)突变和激活的 KIT 突变似乎在这些肿瘤中不存在或非常罕见。
