Barresi Valeria, Simbolo Michele, Fioravanzo Adele, Piredda Maria Liliana, Caffo Maria, Ghimenton Claudio, Pinna Giampietro, Longhi Michele, Nicolato Antonio, Scarpa Aldo
Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy.
Unit of Anatomic Pathology, S. Bortolo Hospital, 36100 Vicenza, Italy.
Cancers (Basel). 2021 Feb 21;13(4):903. doi: 10.3390/cancers13040903.
The use of adjuvant therapy is controversial in atypical meningiomas with gross total resection. Predictors of recurrence risk could be useful in selecting patients for additional treatments. The aim of this study was to investigate whether molecular features are associated with recurrence risk of atypical meningiomas. According to WHO classification, the diagnosis of atypical meningioma was based on the presence of one major criteria (mitotic activity, brain invasion) or three or more minor criteria. The molecular profile of 22 cases (eight mitotically active, eight brain-invasive, and six with minor criteria) was assessed exploring the mutational status and copy number variation of 409 genes using next generation sequencing. Of the 22 patients with a median follow up of 53.5 months, 13 had recurrence of disease within 68 months. mutation was the only recurrent alteration (11/22) and was unrelated to clinical-pathological features. Recurring meningiomas featured a significantly higher proportion of copy number losses than non-recurring ones ( = 0.027). Chromosome 18q heterozygous loss or homozygous deletion was significantly associated with shorter recurrence-free survival ( = 0.008; hazard ratio: 5.3). Atypical meningiomas could be tested routinely for these genetic alterations to identify cases for adjuvant treatment.
在接受全切除的非典型脑膜瘤中，辅助治疗的使用存在争议。复发风险的预测指标可能有助于选择需要额外治疗的患者。本研究的目的是调查分子特征是否与非典型脑膜瘤的复发风险相关。根据世界卫生组织（WHO）分类，非典型脑膜瘤的诊断基于存在一项主要标准（有丝分裂活性、脑侵袭）或三项及以上次要标准。使用下一代测序技术评估了22例患者（8例有丝分裂活跃、8例脑侵袭、6例有次要标准）的分子特征，探索409个基因的突变状态和拷贝数变异。在22例患者中，中位随访时间为53.5个月，13例在68个月内出现疾病复发。突变是唯一的复发性改变（11/22），且与临床病理特征无关。复发性脑膜瘤的拷贝数丢失比例显著高于未复发者（P = 0.027）。18号染色体杂合性缺失或纯合性缺失与无复发生存期缩短显著相关（P = 0.008；风险比：5.3）。对于非典型脑膜瘤，可以常规检测这些基因改变，以识别需要辅助治疗的病例。
