Spinal Pleomorphic Xanthoastrocytoma: Case Report and Literature Review

Tan, Darius; Lai, Leon T.; Daly, Christopher; Tran, Vu Hoang; Maingard, Julian; Timms, Craig

doi:10.1016/j.wneu.2020.05.117

Cited by 4 publications

(2 citation statements)

References 33 publications

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“…Pleiomorphic xanthoastrocytoma (PXA) is a rare glial tumor accounting for less than 1% of all astrocytomas. These tumors most commonly occur in children and young adults (<30 years) and are typically located superficially in the supratentorial space, mainly in the temporal lobe [ 1 ]. According to the WHO 2021 classification, they are considered grade II tumors [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…Malignant transformation to an anaplastic PXA (aPXA) occurs in 9–20% of cases [ 5 , 6 ]. aPXA is characterized by the same histological features as a PXA but has more than 5 mitoses per 10 high power field and may feature necrosis [ 1 ]. It is considered a WHO grade 3 tumor and is known to follow a more aggressive clinical evolution and have a less favorable outcome (5-year OS of 50–60%) [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Successful Treatment with Dabrafenib/Trametinib of a Malignantly Transformed and Metastasized BRAF V600E Mutant Pleiomorphic Xanthoastrocytoma: A Case Report and Review of the Literature

Vermeulen,

Vander Mijnsbrugge,

Brock

et al. 2024

Case Rep Oncol

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Introduction: Pleiomorphic xanthoastrocytoma (PXA) is considered a low-grade glioma with a favorable prognosis following surgical resection. We present a case report of a BRAFV600E mutant malignantly transformed and disseminated PXA that was successfully treated with BRAF-/MEK-targeted therapy (dabrafenib/trametinib). Case Presentation: At the age of 16 years, our patient underwent an initial subtotal resection of a right occipital PXA. Six months later, a reintervention for an asymptomatic tumor recurrence was performed and complete resection was achieved. The patient has been followed up by MRI for 14 years without arguments for recurrence but was lost to follow-up thereafter. At 38 years of age, he presented with a symptomatic local recurrence with extra-cerebral soft tissue extension, for which a third surgical resection was performed. Anatomopathological examination reported a grade 3 anaplastic PXA (aPXA); molecular analysis detected a BRAFV600E mutation. Three months later, before the initiation of radiotherapy, a local tumor recurrence was diagnosed, for which he underwent a fourth surgical resection. Radiotherapy was performed following the surgical debulking. One month after completion of radiotherapy, disease progression was documented including multiple sites of extracranial metastases (skeletal, lung, cervical lymph node, and subcutaneous metastases). Systemic treatment with a combination of BRAF-/MEK-inhibitors (dabrafenib/trametinib) was initiated and resulted in a rapid and deep tumor response (partial response according to RECISTv1.1) and absence of BRAFV600E mutant ctDNA in plasma at 6 weeks after treatment initiation. A near-complete metabolic remission was documented on [18F]FDG-PET/CT 3 months after starting systemic therapy. Conclusion: We present a rare case of malignant transformation and systemic dissemination of a BRAFV600E mutant PXA, occurring 20 years after the initial diagnosis. This case highlights the importance of long-term follow-up of patients diagnosed with these rare central nervous system tumors that initially are considered benign and also illustrates that BRAF/MEK inhibition can be an effective therapy for BRAFV600E mutated PXA, underscoring the importance of performing molecular genetic profiling of these tumors.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Successful Treatment with Dabrafenib/Trametinib of a Malignantly Transformed and Metastasized BRAF V600E Mutant Pleiomorphic Xanthoastrocytoma: A Case Report and Review of the Literature

Vermeulen,

Vander Mijnsbrugge,

Brock

et al. 2024

Case Rep Oncol

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Cerebrospinal Fluid Spread in a Child with Pleomorphic Xanthoastrocytoma: Report with Cytopathologic Evidence

et al. 2021

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Unusual location of pleomorphic xanthoastrocytoma: a case report

Alharbi,

Alrehaili,

Alhujaily

et al. 2024

Egypt J Radiol Nucl Med

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Background Pleomorphic xanthoastrocytoma is a rare astrocytic tumor often diagnosed at a young age. Typically, they appear as supratentorial cortical tumors, frequently involving the temporal lobe with few reported rare locations. The prognosis is favorable following surgical excision; however, recurrence, dissemination, and anaplastic transformation occurred in some cases. Case presentation A 50-year-old female presented with convulsions and an altered consciousness. Imaging showed a periventricular mixed solid and cystic lesion. Histopathological examination revealed features of pleomorphic xanthoastrocytoma WHO grade 2 without necrosis or mitotic activity. Conclusions This report highlights the classic imaging findings of pleomorphic xanthoastrocytoma but in an atypical periventricular location. Although rare, pleomorphic xanthoastrocytoma should be considered in the differential diagnosis of mixed solid and cystic periventricular lesions.

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Spinal Pleomorphic Xanthoastrocytoma: Case Report and Literature Review

Cited by 4 publications

References 33 publications

Successful Treatment with Dabrafenib/Trametinib of a Malignantly Transformed and Metastasized BRAF V600E Mutant Pleiomorphic Xanthoastrocytoma: A Case Report and Review of the Literature

Successful Treatment with Dabrafenib/Trametinib of a Malignantly Transformed and Metastasized BRAF V600E Mutant Pleiomorphic Xanthoastrocytoma: A Case Report and Review of the Literature

Cerebrospinal Fluid Spread in a Child with Pleomorphic Xanthoastrocytoma: Report with Cytopathologic Evidence

Unusual location of pleomorphic xanthoastrocytoma: a case report

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