Alterations of protein 4.1 family members in ependymomas: a study of 84 cases

摘要: Ependymomas are common pediatric and adult CNS malignancies with a wide biologic spectrum that is often hard to predict using classic prognostic variables. The molecular pathogenesis also poorly understood few reproducible genetic alterations have been identified. most alteration has the loss of Protein 4.1 family member, NF2, predominantly in spinal ependymomas. In contrast, pilot study suggested 4.1B deletions might be more intracranial These findings prompted us members (NF2, 4.1B, 4.1R, 4.1G) larger cohort 84 ependymomas (51 33 spinal; 11 WHO grade I, 43 II, 30 III). Fluorescence situ hybridization was performed 4.1R 4.1G probes immunohistochemical staining subset merlin, antibodies. Additionally, frozen tissue from nine (four five spinal) obtained for Western blot analysis expression. majority cases harbored one or detectable alterations, but we found gene expression were statistically vs adult, spinal, III I/II subsets (P-values 0.038 <0.001). Also, seen 11/27 (41%) patients who either died disease had residual/recurrent tumor 5/41 no evidence at last follow-up (P=0.009). We conclude ependymal tumors specific associated distinct clinicopathologic subsets.