2024年6月15日 · In this review, we consolidate the current knowledge on NF2 and examine the potential connection between cancer metabolism and tumor immunity in merlin-deficient malignancies. This review may...

We aimed to evaluate whether dual NF2/PTEN mutations comprise a more aggressive meningioma phenotype compared to tumors with only NF2 mutations. Identifying this high-risk genetic profile could allow for preventative and individualized treatment of …

2001年10月15日 · NF2 mutations occurred significantly more often in sporadic atypical and anaplastic than in radiation-induced meningiomas (p < 0.02). In addition, all meningiomas were examined for mutations in the PTEN, TP53, HRAS, KRAS and NRAS genes.

Nf2, Pten, and Cdkn2a are well-known tumor suppressor genes. Intriguingly, the NF2 locus is mutated at only 1% frequency in primary tumors of human NSCLC patients (LUAD and/or LUSC) (Cancer Genome Atlas Research Network, 2012, 2014). Nf2 mutant mice develop a range of highly metastatic tumors (McClatchey et al., 1998).

首先，作者构建了12个已知抑癌基因敲除的293a细胞系，这12个抑癌基因包括参与压力应激的keap1、stk11、vhl，负向调控促癌信号的cdh1、nf1、nf2、pten，参与染色质组织或修饰的arid1a、bap1、pbrm1，和调控细胞周期的rb1、tp53。

PTEN is associated with higher rate of recurrence (OR 13.13, p,0.001) and mortality (OR 5.14, p,0.05) compared to NF2 irrespective of Ki67 index. Notably, patients with mutations in NF2 alone or both NF2/PTEN did not differ in preoperative Karnofsky performance score, Simpson resection grade, or presence of post operative residual tumor.

We observed a combined downregulation of PTEN signaling and an upregulation of mTOR signaling in progressive NF2-associated VS after irradiation. Immunostainings with mTOR and PTEN antibodies confirmed the respective molecular alterations.

PTEN mutations were observed in meningiomas with and without NF2 mutations (Table II). Based on the rarity of PTEN mutations, a differential role of these alterations in the genesis of sporadic and radiation-induced meningiomas can be only speculative.

Previous observations demonstrated that the neurofibromatosis type 2 gene (NF2) plays an important role in the pathogenesis of the transitional, fibroblastic and malignant variants of human meningiomas. No specific genes have been associated with the pathogenesis of meningothelial meningiomas and wi …

NF2突变相关型，占50%，与男性有关；包括CDKN2A/B、ARID1A、PTEN和KDM6A突变。 NF2不确定型占10%，以TERTp或TP53突变为特征，与性别无关。 NF2无关型占40%，又可分为三个亚组，第一个亚组有BAP1/PBRM1突变，第二个亚组有AKT1、PIK3CA和SMO突变，第三个亚组有突变频率低和非复发突变的异质性基因谱（图1和表1）。 图1. 高级别/进展性脑膜瘤分子学改变示意图。 表1. 比较三个不同亚型脑膜瘤的生物侵袭性. NF2突变相关型： NF2突变相关 …