Molecular profile and clinical outcome of adult primary spinal cord glioblastoma: a systematic review.

OBJECTIVE: Primary spinal cord glioblastoma (scGB) is a rare and aggressive spinal glioma, making up 7.5% of such cases. Whereas molecular profiles associated with improved overall survival (OS) are well studied for cranial glioblastoma (GB), the molecular characteristics of scGB are less documented. This review sought to document the molecular signatures of scGB, explore current treatment strategies, and evaluate clinical outcomes. METHODS: A systematic literature review following the PRISMA guidelines searched the PubMed, Embase, and CENTRAL databases (January 1, 2013, to October 14, 2023) using glioblastoma-, spine-, and genetics-related keywords. Inclusion criteria were English-language articles on humans with histologically confirmed primary scGB, excluding drop metastases. Data on demographic characteristics, treatments, molecular profile, and outcome were extracted. RESULTS: Over 10 years, 71 patients with adult primary scGB were reported in 31 papers. Most patients were located in Asia (53%) and the United States (23%). The median (range) age was 32 (24-47) years, with 61% of patients male. Tumors occurred primarily in the thoracic region (42%). Clinical presentation included motor deficits (92%), sensory deficits (86%), neck/back pain (68%), and bowel/bladder dysfunction (59%). Patients underwent subtotal resection (51%), gross-total resection (GTR) (23%), and biopsy (26%). Postoperative adjuvant treatment included concomitant external beam radiation therapy (XRT) and temozolomide (TMZ) in the majority of cases (66%), as well as palliative care without adjuvant treatment (17%). The molecular signature of scGB was similar to its cranial counterpart in terms of MGMT-promoter methylation (40% increased methylation) and higher for mutant TERT (50%) but decreased for wild-type tumor protein p53 (41% decreased mutation). Median (range) OS was 10 (6-18) months, and median progression-free survival (PFS) was 7 (3-10) months. PFS was significantly higher in patients treated with XRT/TMZ: median 15 months vs 4.5 months (95% CI -1.32 to 22.56, p < 0.05). CONCLUSIONS: Primary scGB remains a rare disease with notable variations in treatment, potentially influenced by geographical availability. The observed molecular profile, when compared to that of cranial GB, emphasizes the need for further genomic validation and data collection. Surgical advancements to overcome the challenges of accomplishing GTR may contribute to improved OS.

Atypical imaging features of the primary spinal cord glioblastoma: A case report.

BACKGROUND: Primary spinal cord (PSC) glioblastoma (GB) is an extremely rare but fatal primary tumor of the central nervous system and associated with a poor prognosis. While typical tumor imaging features are generally easy to recognize, glioblastoma multiforme can have a wide range of imaging findings. Atypical GB is often misdiagnosed, which usually delays the optimal time for treatment. In this article, we discuss a clinical case of pathologically confirmed PSC GB under the guise of benign tumor imaging findings, as well as the most recent literature pertaining to PSC GB. CASE SUMMARY: A 70-year-old female complained of limb weakness lasting more than 20 d. Irregular masses were observed inside and outside the left foramina of the spinal canal at C7-T1 on medical imaging. Based on the imaging features, radiologists diagnosed the patient with schwannoma. Tumor resection was performed under general anesthesia. The final histopathological findings revealed a final diagnosis of PSC GB, world health organization Grade IV. The patient subsequently underwent a 4-wk course of radiotherapy (60 Gy in 20 fractions) combined with temozolomide chemotherapy. The patient was alive at the time of submission of this manuscript. CONCLUSION: Atypical GB presented unusual imaging findings, which led to misdiagnosis. Therefore, a complete recognition of imaging signs may facilitate early accurate diagnosis.

Clinical Features and Outcomes of Primary Spinal Cord Glioblastoma: A Single-Center Experience and Literature Review.

OBJECTIVE: We aim to elucidate the clinical characteristics of patients with primary spinal cord glioblastoma (PSC GBM) and prognostic factors for their outcomes. METHODS: A cohort of 11 patients with pathologically diagnosed PSC GBM from our center were retrospectively reviewed. The clinical, radiologic, operative, and molecular information were recorded, and univariate analysis was performed to identify prognostic factors. RESULTS: The patient cohort included 5 males (45.5%) and 6 females (54.5%) with a median age of 26 years (range, 9-69 years). The median duration of the preoperative symptoms was 4.0 months (range, 0.5-120 months). Subtotal resection was achieved in 8 patients (72.7%) and partial resection in 3 (27.3%). Two patients (18.2%) underwent postoperative adjuvant chemoradiotherapy, 2 patients underwent (27.3%) chemotherapy only, and 6 patients (54.5%) neither. Two patients underwent additional therapy with bevacizumab. After a mean follow-up of 12.4 months (range, 1-33 months), Kaplan-Meier plot showed that the median progression-free survival and overall survival were 6.0 (range, 0.5-12.0) months and 12.0 (range, 1.0-33.0) months, respectively, and 1-year survival was 31.8%. Age at diagnosis and duration of the preoperative symptoms were confirmed as prognostic factors of progression-free survival and overall survival in univariate analysis (P < 0.05). CONCLUSIONS: Despite aggressive treatment, PSC GBM still has a dismal prognosis and leads to severe neurologic deficit. Age at diagnosis and duration of the preoperative symptoms were confirmed as prognostic factors, yet the role of adjuvant radiochemotherapy and extent of resection are still unclear, necessitating further research.

Multicentric Exophytic Primary Spinal Cord Glioblastoma Mimicking Teratoma.

Primary spinal cord glioblastoma is an extremely rare disease that shows dismal prognosis. Here we report the first case, to our knowledge, of multicentric primary spinal cord glioblastoma presenting with exophytic involvement mimicking teratoma. A 12-year-old girl presented to our hospital with a 6-month history of back pain and progressive paraplegia. Spinal magnetic resonance imaging findings were suspicious for spinal teratoma with cerebrospinal fluid dissemination. The patient underwent laminotomy and laminoplasty from T10-S2 and subtotal resection of the tumor was achieved. Histopathological analysis revealed typical histological indications of glioblastoma. After surgery, the patient underwent further adjuvant therapy consisting of radiotherapy and temozolomide. However, 8 months after surgery, the follow-up magnetic resonance imaging scan revealed tumor recurrence with intracranial dissemination. The patient is still alive at the current stage (9 months after surgery).

Exophytic Primary Intramedullary Spinal Cord Glioblastoma: Case Report and Critical Review of Literature.

BACKGROUND: Primary intramedullary spinal cord (IMSC) glioblastoma (GBM) is an extremely rare entity; we report the first case of primary IMSC GBM presenting with exophytic involvement. The prognosis of glioblastoma remains poor due to the aggressive nature of the disease and lack of effective treatment. CASE DESCRIPTION: A 27-year-old Asian female presented to our hospital with a 1-month history of dysuria, incomplete bladder emptying, progressive numbness, and weakness of both lower limbs, as well as a 1-year history of back pain. Spinal magnetic resonance imaging (MRI) revealed an intramedullary lesion and exophytic growth in the T4-T12 and T5-12 regions, respectively. The patient's MRI findings were atypical of spinal glioblastoma. The diagnosis was made on the basis of immunohistochemical and pathologic analyses of tissue samples obtained from an open biopsy. The patient received a standard course of glioblastoma radiotherapy and adjuvant temozolomide chemotherapy, which improved her symptoms in the absence of an apparent reduction in tumor size. CONCLUSIONS: Although MRI is of indisputable importance in the diagnosis of spinal cord lesions, immunohistochemical and histopathologic studies are often required to establish a definitive diagnosis. It remains unclear how the unusual involvement of exophytic growth will affect the prognosis of primary IMSC GBM.