Angiocentric glioma (AG) is a rare subtype of neuroepithelial tumor in children and young adults that commonly presents with seizures. To study the clinical characteristics, treatment and prognosis of patients with AG, the features of two cases of AG were described and 108 cases reported in the literature were assessed. The cases of the present study were two males aged 8 and 16 years, who mainly presented with seizures. MRI revealed superficial, non-enhanced lesions in the left temporal and right frontal lobe, respectively. The two patients underwent gross total resection (GTR) and remained seizure-free without neurological deficits after 3.5 and 2.5 years, respectively. Histopathological examination revealed that the tumors consisted of monomorphous cells that surrounded the blood vessels and neurons in the cerebral cortex, and formed concentric sleeves or pseudorosettes. Furthermore, immunostaining indicated that the diffuse infiltrative neoplastic cells were positive for glial fibrillary acidic protein and a dot-like pattern of epithelial membrane antigen was observed. AG mostly appeared similar to low-grade gliomas on MRI. GTR of the lesions was curative and radiation or chemotherapy were not required. AG typically has a favorable prognosis, with low mortality and incidence of disability.

Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms. Mutations in the KRIT1, CCM2, and PDCD10 genes cause the development of FCCM. Approximately 476 mutations of three CCM-related genes have been reported, most of which were case reports, and lack of data in stable inheritance. In addition, only a small number of causative missense mutations had been identified in patients. Here, we reported that 8/20 members of a Chinese family were diagnosed with CCMs. By direct DNA sequencing, we found a novel variant c.331G > C (p.A111P) in exon 4 of the CCM2 gene, which was a heterozygous exonic variant, in 7/20 family members. We consider this variant to be causative of disease due to a weaken the protein–protein interaction between KRIT1 and CCM2. In addition, we also found the exon 13 deletion in KRIT1 coexisting with the CCM2 mutation in patient IV-2, and this was inherited from her father (patient III-1H). This study of a Chinese family with a large number of patients with CCMs and stable inheritance of a CCM2 mutation contributes to better understanding the spectrum of gene mutations in CCMs.

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The aim of the present study was to investigate the clinical characteristics, treatments and outcomes of patients with primary suprasellar germinoma, a rare malignant brain tumor. In the present study, the medical data of 15 cases of primary suprasellar germinoma were retrospectively reviewed. The basic clinical characteristics, primary symptoms, admission period, surgical treatment, radiotherapy and chemotherapy, and follow-up were analyzed. There were 6 female (40%) and 9 male (60%) patients, with a mean age of 19.6 ± 7.4 years (age range, 9–39 years). The mean admission period was 17.0 ± 19.0 months (range, 0.5–260 months), and the mean follow-up period was 28.8 ± 21.5 months (range, 4–70 months). The primary complaints were polydipsia and polyuria (66.7%) and visual impairment (53.3%); 2 cases (13.3%) were affected in both the suprasellar and the pineal regions. In all 15 cases, a diagnosis of germinoma was histopathologically confirmed by craniotomy or biopsy, though gross total resection was only achieved in 1 patient. No instances of surgical mortality were observed. After surgery, all patients underwent radiotherapy and chemotherapy, and all recovered well following discharge. During follow-up, symptoms were markedly relieved and a reduction in tumor size was observed in all cases. However, 1 patient died 4 months post-surgery due to progressive disturbance of consciousness and severe pulmonary infection. In conclusion, primary suprasellar germinoma is a rare malignant brain tumor, of which progressive polydipsia and polyuria, and visual impairment are the primary symptoms. Thickening of the pituitary stalk may be the only initial imaging manifestation. Craniotomy for partial resection or endoscopic biopsy is strongly recommended to confirm histological diagnosis. Whole ventricular radiotherapy plus local enhanced radiotherapy, or combined radiotherapy and chemotherapy, are effective at reducing tumor size and relieving symptoms. Prognosis is favorable for most patients with primary suprasellar germinoma, though endocrine deficiencies should be managed appropriately.