Spinal cord anaplastic astrocytoma with <i>BRAF</i> V600E mutation: A case report and review of literature

Takamiya, Soichiro; Hatanaka, Kanako C.; Ishi, Yukitomo; Seki, Takahiro; Yamaguchi, Shigeru

doi:10.1111/neup.12636

Cited by 6 publications

(3 citation statements)

References 29 publications

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“…A separate 2020 case report found spinal cord AA in a 17 year old girl in the conus medullaris at the T11-T12 level. Genetic analysis revealed a BRAF V600E mutation, the first report of this mutation in spinal cord AA [40].…”

Section: Discussionmentioning

confidence: 85%

Untitled

2022

SM J Neurol Neurosc

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Anaplastic astrocytoma (AA) is a malignant, primary tumor of the central nervous system. AA often occurs due to transformation from lower-grade astrocytomas or less commonly arises as a de novo tumor. WHO classification of AA is characterized by increased cellularity, nuclear atypia, increased mitotic activity, presence of glial markers, and absence of neuronal markers. Astrocytomas are the most common intramedullary tumor within the spinal cord in pediatric patients, and have the second highest incidence in adult patients with intramedullary spinal cord tumors, behind ependymomas. However, primary tumors of the spinal cord are rare, accounting for 3-6% of tumors located in the central nervous system. In a patient with spinal cord AA, the median survival from surgery to death is 6 months to 1 year. We report a case of primary AA within the spinal cord along with a brief review of the literature.

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Section: Discussionmentioning

confidence: 85%

Untitled

2022

SM J Neurol Neurosc

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“…In a recent study investigating the genetic profile of intramedullary astrocytomas, Zhang et al postulated that astrocytomas of the spinal cord may arise from alternative mechanisms of tumorigenesis compared to intracranial astrocytomas [40]. Due to their possibly distinct genetic profile and nonconformity with their intracranial counterparts, genetic alterations should be discussed for targeted therapy, regarding the limited prognosis of patients with spinal infiltrating astrocytomas with current treatment strategies [40][41][42]. Further molecular analysis is needed for evaluation of tumor origin and possible therapeutic agents [42], as neuropathological diagnostics evolve and may open further diagnostics paths for molecular characterization in small tumor samples.…”

Section: Molecular Markersmentioning

confidence: 99%

Surgical treatment and neurological outcome of infiltrating intramedullary astrocytoma WHO II–IV: a multicenter retrospective case series

et al. 2020

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Introduction Primary malignant spinal astrocytomas present rare oncological entities with limited median survival and rapid neurological deterioration. Evidence on surgical therapy, adjuvant treatment, and neurological outcome is sparse. We aim to describe the treatment algorithm and clinical features on patients with infiltrating intramedullary astrocytomas graded WHO II–IV. Methods The following is a multicentered retrospective study of patients treated for spinal malignant glioma WHO II–IV in five high-volume neurosurgical departments from 2008 to 2019. Pilocytic astrocytomas were excluded. We assessed data on surgical technique, perioperative neurological status, adjuvant oncological therapy, and clinical outcome. Results 40 patients were included (diffuse astrocytoma WHO II n = 11, anaplastic astrocytoma WHO III n = 12, WHO IV n = 17). Only 40% were functionally independent before surgery, most patients presented with moderate disability (47.5%). Most patients underwent a biopsy (n = 18, 45%) or subtotal tumor resection (n = 15, 37.5%), and 49% of the patients deteriorated after surgery. Patients with WHO III and IV tumors were treated with combined radiochemotherapy. Median overall survival (OS) was 46.5 months in WHO II, 25.7 months in WHO III, and 7.4 months in WHO IV astrocytomas. Preoperative clinical status and WHO significantly influenced the OS, and the extent of resection did not. Conclusion Infiltrating intramedullary astrocytomas WHO II–IV present rare entities with dismal prognosis. Due to the high incidence of surgery-related neurological impairment, the aim of the surgical approach should be limited to obtaining the histological tissue via a biopsy or, tumor debulking in cases with rapidly progressive severe preoperative deficits.

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“…Summary and comparison of intracranial and spinal astrocytoma and glioblastoma2,4,10,13,15,[21][22][23][24] …”

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confidence: 99%

Primary Intramedullary Spinal High-Grade Glioma: A Case Series with Review of Literature

Aashita

Sharma

Yadav

et al. 2022

South Asian J Cancer

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Background Primary intramedullary high-grade glioma (HGG) and glioblastoma of spinal cord are uncommon tumors of central nervous system. Treatment recommendations are based on current guidelines of intracranial HGG and glioblastoma multiforme (GBM). Methods We retrospectively analyzed records of 9,686 patients who reported to our center over past 7 years. Only three cases of primary intramedullary HGG of spinal cord were found. Results In this article, we have reported three cases of primary intramedullary HGG of spinal cord. A comparison of intracranial and intramedullary spinal HGG and review of literature is presented. Conclusion Despite aggressive treatment using surgery, radiation, and chemotherapy, the survival rates are dismal. Emerging evidence has shown difference in biological behavior of intracranial and spinal HGG. Genetic studies to understand the biology and prospective studies are needed.

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Spinal cord anaplastic astrocytoma with BRAF V600E mutation: A case report and review of literature

Cited by 6 publications

References 29 publications

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Surgical treatment and neurological outcome of infiltrating intramedullary astrocytoma WHO II–IV: a multicenter retrospective case series

Primary Intramedullary Spinal High-Grade Glioma: A Case Series with Review of Literature

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