暂无摘要。

BACKGROUND: Primary spinal cord tumors, especially primary spinal cord glioblastoma multiforme (PSC-GBM), are exceptionally rare, accounting for less than 1.5% of all spinal tumors. Their infrequency and aggressive yet atypical presentation make diagnosis challenging. In uncertain cases, a surgical approach for tissue diagnosis is often optimal.
METHODS: A 76-year-old male presented with a rapidly progressing clinical history marked by worsening extremity weakness, urinary retention, and periodic fecal incontinence alongside diffuse changes on neuraxis imaging. The patient, in whom subacute polyneuropathy was initially diagnosed, received multiple rounds of steroids and intravenous immunoglobulin without clinical improvement. Histopathological review of the biopsy tissue yielded an initial diagnosis of spindle cell neoplasm. Next-generation sequencing (NGS) is done routinely on all neuropathology specimens at the authors\' institution, and methylation profiling is pursued in difficult cases. Ultimately, NGS and methylation profiling results were essential to an integrated final diagnosis of GBM.
CONCLUSIONS: PSC-GBM is a rare but highly aggressive occurrence of this tumor. Prolonged back pain, rapid neurological decline, and imaging changes warrant the consideration of lesional biopsy for precise disease characterization. In inconclusive cases, NGS has proved invaluable for clinical clarification and diagnosis, underscoring its importance for integrated diagnoses in guiding appropriate treatment strategies.

Nodular fasciitis is usually a benign lesion genetically characterized by ubiquitin-specific protease 6 (USP6) rearrangements. We present a case of a 10-year-old boy with a 1.5-week history of a painless mass on the right chest wall, which was excised. A histomorphologically malignant tumor with pronounced pleomorphism, atypical mitotic figures, and a myoid immunophenotype was observed. The methylation profile was consistent with nodular fasciitis and fluorescence in situ hybridization confirmed USP6 rearrangement. Using Archer Fusion Plex (Sarcoma Panel) and RNA sequencing, a collagen, type VI, alpha 2 (COL6A2)-USP6 gene fusion was subsequently identified. Furthermore, DNA clustering analysis also showed a match with nodular fasciitis. During the follow-up of 22 months, no recurrence or metastasis occurred. In conclusion, we describe a clinically benign, histomorphologically malignant mesenchymal neoplasm with a myoid immunophenotype, and a genetic and epigenetic profile consistent with nodular fasciitis. In such cases, molecular analysis is a useful adjunct to avoid unnecessary overtreatment.

High-grade neuroepithelial tumor with BCOR alteration (HGNET BCOR) has been recently classified as a new category of tumors among those previously known as PNET. They are molecularly characterized by the mutation of the BCOR gene, a corepressor of BCL6 a gene (which has an important role in immune responses). Only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary about the state of the art on these tumors.
The pertinent review has been reviewed, and an exemplary case has been reported (15-month-old boy with large HGNET BCOR of the left cerebellopontine angle). So far, 24 cases have been described, with a 5.5 mean age at diagnosis and a 1.4 male/female ratio. The cerebellar hemisphere is the more frequently involved region. No metastases are usually detected at diagnosis, though they are common in case of tumor recurrence. There are no specific radiological or pathological features to differentiate HGNET BCOR from other brain malignant neuroepithelial tumors so that the differential diagnosis is obtained by DNA methylation profiling. The management possibly relies on surgery and (high dose) chemotherapy and radiotherapy but without a dedicated protocol yet. The overall survival after 48-month follow-up is 50%. A gross total resection, which is mandatory for a better outcome, is achievable in the majority of cases.
The clinical research on HGNET BCOR is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management.