Department of Neurosurgery, Faculty of Medicine, University of Saarland, Homburg/Saar, Germany.
Institute of Neuropathology, Faculty of Medicine, University of Heidelberg, Heidelberg, Germany.
Pediatr Neurosurg. 2020;55(6):418-425. doi: 10.1159/000512001. Epub 2020 Dec 9.
Here, we present the case of a 32-year-old female with a progressing history of meningioma for 16 years starting with an ethmoidal lesion in 2002. The initial tumor specimen of this patient showed a deletion of the short arm of chromosome 1 through a translocation between chromosomes 1 and 11 (t[1; 11]) as well as additional chromosomal aberrations, including partial or complete monosomy of chromosomes 2, 6, 7, 11, 13, and 22. These molecular characteristics were already known to be associated with an aggressive course of the disease, and the patient was, therefore, included in a strict follow-up regime. From 2003 to 2019, the patient suffered multiple relapses and consecutive tumor resections.
Tumor specimen from 2017 was examined using a genome-wide methylation analysis as well as a whole-genome sequencing.
These analyses confirmed the findings of 2002 and proved genetic alteration in the meningioma to be very stable over the time. Yet SMO and AKT1 mutations, which have been described to be paradigmatic in frontobasal meningioma, could not be found.
Genetic characteristics seem to be very stable during progression of the disease. The loss of 1p represents to be a potential marker for the poor clinical course of our child meningioma. In 2019, our patient passed away due to the progress of her meningioma disease.
本研究报告了一位 32 岁女性的病例，她从 2002 年开始患有进展性脑膜瘤病史 16 年，最初的肿瘤标本显示 1 号染色体与 11 号染色体之间的易位导致 1 号染色体短臂缺失（t[1; 11]），以及其他染色体异常，包括 2、6、7、11、13 和 22 号染色体的部分或完全单体。这些分子特征已被认为与疾病的侵袭性病程有关，因此该患者被纳入严格的随访方案。从 2003 年到 2019 年，患者多次复发并连续进行肿瘤切除术。
对 2017 年的肿瘤标本进行了全基因组甲基化分析和全基因组测序。
这些分析证实了 2002 年的发现，并证明脑膜瘤的遗传改变在很长一段时间内非常稳定。然而，未发现 SMO 和 AKT1 突变，这已被描述为额底脑膜瘤的典型突变。
疾病进展过程中遗传特征似乎非常稳定。1p 的缺失可能是我们儿童脑膜瘤不良临床病程的潜在标志物。2019 年，我们的患者因脑膜瘤疾病进展而去世。
