Meningiomas rarely cause CSF dissemination, and CSF seeding to the optic nerve (ON) is extremely rare. This is the first report of 2 cases of atypical meningioma with subacute visual loss due to ON seeding. The authors present the genetic characteristics of these atypical meningiomas with CSF dissemination. The patient in Case 1 was a 36-year-old woman with a 1.5-cm mass within the left ON, and the patient in Case 2 was a 70-year-old woman with a 0.9-cm mass around the right ON. Both individuals had undergone multiple surgeries for primary lesions and local recurrent lesions. They presented with subacute visual loss, and both tumors were completely resected. The pathological diagnosis was atypical meningioma with high MIB-1 indices and p53-positive cell ratios in each case. Comparative genomic hybridization showed significant chromosomal copy number alterations similar to the results of previous surgeries, confirming that the tumors were disseminated lesions. The present findings suggest that genetic characteristics, such as 1p and 10qcen-23 losses and 17q and 20 gains, shared by the 2 cases might be associated with CSF dissemination of meningiomas.
Yohei Kitamura, Takenori Akiyama, Hikaru Sasaki, Yuichiro Hayashi and Kazunari Yoshida
Hiroki Kanamori, Yohei Kitamura, Tokuhiro Kimura, Kazunari Yoshida and Hikaru Sasaki
Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the 2 major malignant bone neoplasms occurring at this location. The distinction of these 2 tumors is important, but this distinction is occasionally problematic because of radiological and histological overlap. Unlike chordoma and extracranial chondrosarcoma, no case series presenting a whole-genome analysis of skull base chondrosarcomas (SBCSs) has been reported. The goal of this study is to clarify the genetic characteristics of SBCSs and contrast them with those of chordomas.
The authors analyzed 7 SBCS specimens for chromosomal copy number alterations (CNAs) using comparative genomic hybridization (CGH). They also examined IDH1 and IDH2 mutations and brachyury expression.
In CGH analyses, the authors detected CNAs in 6 of the 7 cases, including chromosomal gains of 8q21.1, 19, 2q22-q32, 5qcen-q14, 8q21-q22, and 15qcen-q14. Mutation of IDH1 was found with a high frequency (5 of 7 cases, 71.4%), of which R132S was most frequently mutated. No IDH2 mutations were found, and immunohistochemical staining for brachyury was negative in all cases.
To the best of the authors' knowledge, this is the first whole-genome study of an SBSC case series. Their findings suggest that these tumors are molecularly consistent with a subset of conventional central chondrosarcomas and different from skull base chordomas.
Yasushi Ino, Magdalena C. Zlatescu, Hikaru Sasaki, David R. Macdonald, Anat O. Stemmer-Rachamimov, Sarah Jhung, David A. Ramsay, Andreas von Deimling, David N. Louis and J. Gregory Cairncross
Object. Allelic loss of chromosome 1p is a powerful predictor of tumor chemosensitivity and prolonged survival in patients with anaplastic oligodendrogliomas. Chromosome 1p loss also occurs in astrocytic and oligoastrocytic gliomas, although less commonly than in pure oligodendroglial tumors. This observation raises the possibility investigated in this study that chromosome 1p loss might also provide prognostic information for patients with high-grade gliomas with astrocytic components.
Methods. The authors report on seven patients with high-grade gliomas composed of either pure astrocytic or mixed astrocytic-oligodendroglial phenotypes, who had remarkable neuroradiological responses to therapy or unexpectedly long survivals. All of the tumors from these seven patients demonstrated chromosome 1p loss, whereas other genetic alterations characteristic of high-grade gliomas (p53 gene mutations, EGFR gene amplification, chromosome 10 loss, chromosome 19q loss, or CDKN2A/p16 deletions) were only found in occasional cases. The authors also assessed the frequency of chromosome 1p loss in a series of anonymous high-grade astrocytoma samples obtained from a tumor bank and demonstrate that this genetic change is uncommon, occurring in only 10% of cases.
Conclusions. Although any prognostic importance of chromosome 1p loss in astrocytic or mixed astrocytic—oligodendroglial gliomas can only be determined in larger and prospective series, these findings raise the possibility that some high-grade gliomas with chromosome 1p loss, in addition to pure anaplastic oligodendrogliomas, may follow a more favorable clinical course.