Huntoon Kristin, Yilmaz Ayse Selen, Pietrzak Maciej, Chen Xi, Yan Pearlly, Toland Amanda Ewart, Elder J Bradley
Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Ohio State University, Columbus, OH, USA.
Department of Neurological Surgery, MD Anderson Cancer Center, Houston, TX, USA.
Acta Neurochir (Wien). 2022 May;164(5):1401-1405. doi: 10.1007/s00701-021-05101-w. Epub 2022 Jan 3.
To identify genes altered in a highly aggressive metastatic meningioma primary as well as its metastases. Exome sequencing of a primary anaplastic meningioma and metastatic lesions in which DNA could be extracted and compared to germline DNA. Genetic analysis of the metastatic sites found 31 common mutations among the primary tumor and two metastatic sites. Additionally, genetic mutations were identified which were either infrequently (MUC3A, ALDH1A3, HOXA1) or not at all previously described in meningiomas (CASS4, CMKLR1). Exome sequencing of a metastatic meningioma and its distant metastases outside the CNS identified mutations that were not previously well described.
鉴定在高度侵袭性转移性脑膜瘤原发灶及其转移灶中发生改变的基因。对1例间变性脑膜瘤原发灶及可提取DNA并与种系DNA进行比较的转移灶进行外显子组测序。对转移部位的基因分析发现，原发肿瘤和2个转移部位共有31个常见突变。此外，还鉴定出了在脑膜瘤中很少（MUC3A、ALDH1A3、HOXA1）或以前从未描述过（CASS4、CMKLR1）的基因突变。对1例转移性脑膜瘤及其CNS外远处转移灶进行外显子组测序，发现了以前未充分描述的突变。
