Glioblastoma IDH-wildtype presents with a wide histological spectrum. Some features are so distinctive that they are considered as separate histological variants or patterns for the purpose of classification. However, these usually lack defined (epi-)genetic alterations or profiles correlating with this histology. Here, we describe a molecular subtype with overlap to the unique histological pattern of glioblastoma with primitive neuronal component. Our cohort consists of 63 IDH-wildtype glioblastomas that harbor a characteristic DNA methylation profile. Median age at diagnosis was 59.5 years. Copy-number variations and genetic sequencing revealed frequent alterations in TP53, RB1 and PTEN, with fewer gains of chromosome 7 and homozygous CDKN2A/B deletions than usually described for IDH-wildtype glioblastoma. Gains of chromosome 1 were detected in more than half of the cases. A poorly differentiated phenotype with frequent absence of GFAP expression, high proliferation index and strong staining for p53 and TTF1 often caused misleading histological classification as carcinoma metastasis or primitive neuroectodermal tumor. Clinically, many patients presented with leptomeningeal dissemination and spinal metastasis. Outcome was poor with a median overall survival of only 12 months. Overall, we describe a new molecular subtype of IDH-wildtype glioblastoma with a distinct histological appearance and genetic signature.

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Objective: Spinal cord tumors constitute a small part of spinal surgery owing to their rarity. This retrospective study describes their current management.Methods: Forty-eight patients were treated for an intramedullary tumor between 2014 and 2020 at a single institution. Patients’ files were retrospectively studied. We detailed clinical status according to neurological deficit and ambulatory ability using the modified McCormick Scale, radiological features like number of levels, associated syringomyelia, surgical technique with or without intraoperative electrophysiological monitoring, pathological findings, and postoperative outcome.Results: The median age of this population was 43 years, including 5 patients under 18 years. The median delay before first neurosurgical contact was 3 months after the first clinical complaint. Treatment was gross total resection in 43.8%, subtotal resection in 50.0%, and biopsy in 6.2%. A laminectomy was performed for all the patients except 2 operated using the laminoplasty technique. Pathological findings were ependymoma in 43.8%, hemangioblastoma in 20.8%, and pilocytic astrocytoma in 10.4%. Six patients were reoperated for a tumor recurrence less than 2 years after the first surgical resection. One patient was reoperated for a postoperative cervical kyphosis.Conclusion: Intramedullary tumors are still a challenging disease and they are treated by various surgical techniques. They must be managed in a specialized center including a trained surgical, radiological, electrophysiological, and pathological team. Arthrodesis must be discussed before performing extensive laminectomy to avoid postoperative kyphosis.

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Aim: Rosette-forming glioneuronal tumour (RGNT) is a rare central nervous system (CNS) World Health Organization (WHO) grade 1 brain neoplasm. According to the WHO 2021, essential diagnostic criteria are a 'biphasic histomorphology with neurocytic and a glial component, and uniform neurocytes forming rosettes and/or perivascular pseudorosettes associated with synaptophysin expression' and/or DNA methylation profile of RGNT whereas 'FGFR1 mutation with co-occurring PIK3CA and/or NF1 mutation' are desirable criteria. Material and methods: We report a series of 46 cases fulfilling the essential pathological diagnostic criteria for RGNT. FGFR1 and PIK3CA hotspot mutations were searched for by multiplexed digital PCR in all cases, whereas DNA methylation profiling and/or PIK3R1 and NF1 alterations were analysed in a subset of cases. Results: Three groups were observed. The first one included 21 intracranial midline tumours demonstrating FGFR1 mutation associated with PIK3CA or PIK3R1 (n = 19) or NF1 (n = 1) or PIK3CA and NF1 (n = 1) mutation. By DNA methylation profiling, eight cases were classified as RGNT (they demonstrated FGFR1 and PIK3CA or PIK3R1 mutations). Group 2 comprised 11 cases associated with one single FGFR1 mutation. Group 3 included six cases classified as low-grade glioma (LGG) other than RGNT (one-sixth showed FGFR1 mutation and one a FGFR1 and NF1 mutation) and eight cases without FGFR1 mutation. Groups 2 and 3 were enriched in lateral and spinal cases. Conclusions: We suggest adding FGFR1 mutation and intracranial midline location as essential diagnostic criteria. When DNA methylation profiling is not available, a RGNT diagnosis remains certain in cases demonstrating characteristic pathological features and FGFR1 mutation associated with either PIK3CA or PIK3R1 mutation.