Search

Background: Controversy exists regarding the prognostic significance of cystic features in newly diagnosed glioblastoma multiforme (GBM) and the pathological origin of cystic GBMs., Objective: To determine whether cystic GBMs develop from low-grade gliomas by evaluating IDH1 status and to evaluate the differences in overall survival between patients with cystic and noncystic tumors., Methods: We retrospectively reviewed the records of 351 consecutive newly diagnosed adult GBM patients treated at our institution from October 1997 to November 2011; patients with >50% cystic tumor composition were further identified. IDH1 mutation was determined by immunohistochemical staining. Patient characteristics and treatment were reported for cystic and noncystic tumors separately. Overall survival was reported for cystic and noncystic cohorts by using the Kaplan-Meier estimates., Results: Of 351 patients, 27 (7.7%) had cystic tumors and 324 (92.3%) had noncystic tumors. Tumor samples for patients with cystic GBMs were immunohistochemically analyzed for IDH1 mutations. Two (7.4%) of the 27 tumor samples were documented as having IDH1 mutations. Characteristics such as age, sex, perioperative Karnofsky Performance Status, tumor size, extent of resection, postsurgery radiation, and temozolomide therapy were comparable in the and noncystic cohorts. Patients in the cystic cohort had a median overall survival of 15.0 months compared with 18.2 months for the noncystic cohort (log-rank P = .77)., Conclusion: The low frequency of IDH1 mutation status in our cystic cohort strongly suggests that most newly diagnosed cystic GBMs do not arise from malignant transformation of previously undiagnosed low-grade gliomas. Furthermore, there is no difference in overall survival between patients newly diagnosed with cystic and noncystic GBMs.

Objective and Importance: Colloid cysts of the third ventricle are rare benign tumors of endodermal origin accounting for 1% of all intracranial tumors. Interestingly, a few familial cases have been reported previously. We present the first case of dizygotic twins with a symptomatic colloid cyst of the third ventricle., Clinical Presentation: A 10-year-old boy was admitted to a local hospital in 1993 because of severe progressive headache. Computed tomographic and magnetic resonance imaging scans revealed acute obstructive hydrocephalus attributable to a third ventricular colloid cyst, which was removed after emergent ventricular drainage. Fourteen years later, a nonidentical twin brother complained of continuous headache with nausea and vomiting. A magnetic resonance imaging scan showed obstructive hydrocephalus and a third ventricle colloid cyst, which was removed by use of the transcallosal approach., Intervention: Both twins underwent complete removal of the cyst by the interhemispheric transcallosal approach without postoperative complications., Conclusion: On the basis of a literature review, 2 cases of colloid cysts of the third ventricle in monozygotic twins and a few familial cases have been reported. Our case is the first in dizygotic twin brothers. These findings suggest that the prevalence of colloid cyst may be higher in twins than in the general population. We believe that the presence of this lesion in a twin necessitates magnetic resonance imaging of the other twin, and a clinical follow-up would be recommended in all other first-degree relatives.

Objective and Importance: Familial colloid cysts of the third ventricle are very rare. This is the largest family reported and the first in which all affected members are female and all members have been screened. Screening led to the diagnosis of an asymptomatic case of a colloid cyst of the third ventricle, and the management of that lesion is discussed., Clinical Presentation: A mother and two daughters who were diagnosed with colloid cysts of the third ventricle, from a family containing four sisters, three brothers, and the father, are presented., Intervention: The index patient (Patient 2) underwent computed tomographic scanning-guided stereotactic transcallosal excision of her colloid cyst. Her siblings and her father were screened using magnetic resonance imaging as well as computed tomographic scanning. Cytogenetic analysis of blood samples obtained from the patient and her family revealed no chromosomal abnormalities., Conclusion: Screening is of value for families in which two or more members are affected. The management of asymptomatic cases is influenced by the lesion size and the age and fitness of the patient.

The cases of a father and his son who were diagnosed with pathologically confirmed colloid cysts of the third ventricle are presented. The familial occurrence of this tumor is rare and suggests that genetic factors may play a role in its formation. Consistent with the concept that the cyst originates as a developmental abnormality, it is associated with a variety of congenital defects. The conditions that are associated with these tumors are discussed.

In primary malignant brain tumors increased vascularity and marked edema strongly suggest a possible role of the vascular endothelial growth factor/vascular permeability factor (VEGF/VPF). This was confirmed by earlier in situ hybridization studies, by analysis of the expression of the mitogen in different subsets of glioblastoma cells, and by the fact that the VEGF/VPF receptor flt-1 (fms-like tyrosine kinase) is up-regulated in tumor cells in vivo. To assess and quantify the expression of the VEGF/VPF gene and of the receptor gene, 26 surgical specimens of brain tumor tissue from 24 patients were analyzed. In most malignant gliomas, the expression level of the VEGF/VPF gene is elevated and can be increased up to 20- to 50-fold in comparison with low-grade tumors. Using polymerase chain reaction-based amplification, it could be shown that the messenger RNAs of three different VEGF/VPF forms are synthesized in tumor tissue samples. Northern blot studies revealed that in some samples a significant expression of the gene coding for placenta growth factor, a growth factor closely related to VEGF/VPF, was observed. In addition, using a radioreceptor assay it was possible to detect high VEGF/VPF-like activity in the cyst fluids of brain tumors, indicating the accumulation of the mitogen and permeability factor in brain tumor cysts. Further investigations revealed that astrocytoma and glioblastoma cells in culture express the VEGF/VPF gene and secrete the VEGF/VPF protein, whereas gene expression of the two known VEGF/VPF receptors, kinase insert domain-containing receptor and flt-1, could not be detected. These data support previous reports, which stated that VEGF/VPF acts as a paracrine growth and permeability factor in brain tumors and may contribute to tumor growth by initiating tumor angiogenesis.