Successful Treatment of a Progressive BRAF V600E–Mutated Anaplastic Pleomorphic Xanthoastrocytoma With Vemurafenib Monotherapy

2016 ◽  
Vol 34 (10) ◽  
pp. e87-e89 ◽  
Author(s):  
Eudocia Q. Lee ◽  
Sandra Ruland ◽  
Nicole R. LeBoeuf ◽  
Patrick Y. Wen ◽  
Sandro Santagata
Keyword(s):  
Successful Treatment ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e

scholarly journals HGG-02. ADOLESCENT AND YOUNG ADULT (AYA) GLIOMA WITH BRAF V600E-MUTANTATION

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii344-iii344
Author(s):  
Yui Kimura ◽  
Yukitomo Ishi ◽  
Yuko Watanabe ◽  
Yoshiko Nakano ◽  
Shigeru Yamaguchi ◽  
...  
Keyword(s):  
Braf Inhibitor ◽  
Clinical Information ◽  
Early Recurrence ◽  
Pleomorphic Xanthoastrocytoma ◽  
Adolescent And Young Adult ◽  
Braf V600e ◽  
Low Grade ◽  
Diffuse Astrocytoma ◽  
Genetic Features ◽  
Epithelioid Glioblastoma

Abstract BACKGROUND Biological features of pediatric glioma differ significantly from those of adult glioma, and limited data are available on those of AYA patients. Here, we focused on AYA patients with glioma, especially those harboring BRAF V600E mutation, and investigated their clinical and genetic features. METHOD: We retrospectively analyzed AYA patients with brain tumors harboring BRAF V600E, who were treated in two hospitals in Japan. RESULTS Clinical information was available for 14 patients. The median age at diagnosis was 25 years (range: 15–38). Five patients were diagnosed with glioblastoma (GBM), including one epithelioid type. These patients were over 25. Although one patient with GBM died of the disease 6.9 years after initial diagnosis, the remaining patients were alive. Two patients were alive without recurrence at 38 and 51 months after the treatment. The patient with epithelioid glioblastoma experienced early recurrence. The remaining nine patients (64%) were diagnosed with low-grade glioma, including ganglioglioma, pilocytic astrocytoma, diffuse astrocytoma, oligodendroglioma, pleomorphic xanthoastrocytoma, and polymorphous low-grade neuroepithelial tumor of the young. No patients died of the disease, and four patients are alive without recurrence after initial operation without adjuvant treatment. Two patients are (epithelioid glioblastoma and ganglioglioma) currently undergoing treatment with a BRAF inhibitor for recurrent tumors. DISCUSSION Although the number of this study is limited, our study suggested that the prognosis of AYA patients with BRAF-V600E positive GBM may not be as dismal as that of children or adults.

scholarly journals Extracranial invasion of a recurrent, transformed anaplastic pleomorphic xanthoastrocytoma: a case report

2018 ◽  
Vol 45 (S1) ◽  
pp. S2-S3
Author(s):  
K.D. Langdon ◽  
D. Krivosheya ◽  
M.O. Hebb ◽  
B. Wehrli ◽  
L.C. Ang
Keyword(s):  
Posterior Fossa ◽  
Jugular Foramen ◽  
Jugular Bulb ◽  
Neck Mass ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e ◽  
Rare Tumour ◽  
Who Grade ◽  
Original Tumour ◽  
The Right

Pleomorphic xanthoastrocytoma (PXA) is a rare tumour comprising <1% of all primary central nervous system tumours and the majority (~98%) occur supratentorially. We report on a 40-year-old female with a past medical history of a rare posterior fossa/cerebellar PXA who presented with a right-sided neck mass, decreased shoulder power and longstanding right tongue deviation with right-sided hemi-atrophy. The patient had prior tumour debulking. Recent MRI demonstrated an enhancing posterior fossa mass extending to the skull base at the jugular foramen and another mass in the upper neck along the jugular bulb with displacement and encasement of the right common carotid artery down to C5. Resection of the neck mass reveals an anaplastic PXA. The tumour has close approximation with adjacent peripheral nerves and is positive in 2 lymph nodes. Comparison with the original tumour molecular and immunohistochemical profiles reveals a conserved BRAF V600E mutation but the transformed malignant glioma now expresses dot-like EMA positivity and ATRX is completely lost (mutated). Transformation of a PXA (WHO Grade II) into an anaplastic PXA (WHO Grade III) has been well documented, but extracranial extension is extraordinarily rare. We report herein the first documented case of a posterior fossa PXA that underwent malignant transformation and extracranial invasion to the parapharyngeal space.

Combined “Infiltrating Astrocytoma/Pleomorphic Xanthoastrocytoma” Harboring IDH1 R132H and BRAF V600E Mutations

2015 ◽  
pp. 1 ◽  
Author(s):  
Seiji Yamada ◽  
Benjamin R. Kipp ◽  
Jesse S. Voss ◽  
Caterina Giannini ◽  
Aditya Raghunathan
Keyword(s):  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e ◽  
Idh1 R132h

scholarly journals RARE-31. TREATMENT OUTCOME OF CHILDREN WITH PLEOMORPHIC XANTHOASTROCYTOMA: RETROSPECTIVE ANALYSIS – A SINGLE INSTITUTION EXPERIENCE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi228-vi228
Author(s):  
Ossama Maher ◽  
Toba Niazi ◽  
Ziad Khatib ◽  
John Ragheb
Keyword(s):  
Local Recurrence ◽  
Retrospective Analysis ◽  
Malignant Transformation ◽  
Cranial Nerve ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e ◽  
Biological Behavior ◽  
High Local Recurrence Rate ◽  
Cranial Nerve Palsies

Abstract BACKGROUND Pleomorphic xanthoastrocytoma (PXA) and anaplastic pleomorphic xanthoastrocytoma (APXA) are two types of rare astrocytomas in pediatrics. There is limited literature reporting their outcomes. METHODS A retrospective analysis of pediatric patients with diagnosis of PXA and APXA treated at Nicklaus Children’s Hospital was conducted using descriptive measures. RESULTS A chart review of patients with brain tumors from 2001 to 2019 revealed that 13 patients (median age 6 years, range 2–17 years) were diagnosed with non-metastatic PXA (n=12) and APXA (n=1). Six patients (46%) were male. Clinical presentation included seizures (n=8), headaches (n=2) cranial nerve palsies (n=2). Diagnostic imaging showed tumor in the temporal lobe (n=5), parietal lobe (n=2), temporoparietal lobe (n=2), frontal lobe (n=1), occipital lobe (n=1), others (n=2). BRAF V600E mutation were identified in three of five analyzed tumors including PXA (n=4) and APXA (n=1). Surgical intervention consisted of gross total resection (n=8) and near/subtotal resection (n=5). Ten patients (76%) required a second surgery (median 2; range 1–4) due to local recurrence. The median time to recurrence was 3 years (range 6 months - 7 years). Three patients (23%) had malignant transformation of PXA, which occurred three to eight years from the initial surgery; one of them also had extensive spinal metastasis. Focal radiation was given to six patients (46%) due to multiple recurrence (n=2), malignant transformation (n=3), APXA (n=1). At a median follow up of 8 years (range 3 to 20 years), eight patients remain alive, three patients had lost to follow up, two patients died from progressive disease. Long-term sequelae varied as follows; seizures (n=5), motor weakness (n=4), cranial nerve palsies (n=2), and learning disability (n=1). CONCLUSION PXA is associated with high local recurrence rate and uncommonly malignant transformation to APXA in pediatrics, which requires close follow-up due to unpredictable biological behavior of these tumors.

BRAF V600E mutation: A treatable driver mutation in pleomorphic xanthoastrocytoma (PXA)

2015 ◽  
Vol 55 (1) ◽  
pp. 122-123 ◽  
Author(s):  
Silvia Hofer ◽  
Grégoire Berthod ◽  
Christian Riklin ◽  
Elisabeth Rushing ◽  
Jonas Feilchenfeldt
Keyword(s):  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Driver Mutation ◽  
Braf V600e

scholarly journals Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report

2016 ◽  
Vol 18 (1) ◽  
pp. 53-57 ◽  
Author(s):  
Marta Cicuendez ◽  
Elena Martinez-Saez ◽  
Francisco Martinez-Ricarte ◽  
Esteban Cordero Asanza ◽  
Juan Sahuquillo
Keyword(s):  
Case Report ◽  
Tumor Recurrence ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Rare Tumor ◽  
Total Resection ◽  
Cell Lineages ◽  
Cellular Origin ◽  
History Of

Combined pleomorphic xanthoastrocytoma (PXA) and ganglioglioma (GG) is an extremely rare tumor, with fewer than 20 cases reported. The authors report a case of combined PXA-GG in an 18-year-old man with a history of seizures. The tumor showed necrosis and the BRAF V600E mutation on histological examination, with no evidence of tumor recurrence 1 year after gross-total resection. The BRAF V600E mutation was present, which suggests that both cell lineages may share a common cellular origin.

scholarly journals Exploring DNA Methylation for Prognosis and Analyzing the Tumor Microenvironment in Pleomorphic Xanthoastrocytoma

2020 ◽  
Vol 79 (8) ◽  
pp. 880-890
Author(s):  
Karen Tang ◽  
David Kurland ◽  
Varshini Vasudevaraja ◽  
Jonathan Serrano ◽  
Michael Delorenzo ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Overall Survival ◽  
Tumor Microenvironment ◽  
Immune Cell ◽  
Progression Free Survival ◽  
Cell Types ◽  
Homozygous Deletion ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e ◽  
Rare Type

Abstract Pleomorphic xanthoastrocytoma (PXA) is a rare type of brain tumor that affects children and young adults. Molecular prognostic markers of PXAs remain poorly established. Similar to gangliogliomas, PXAs show prominent immune cell infiltrate, but its composition also remains unknown. In this study, we correlated DNA methylation and BRAF status with clinical outcome and explored the tumor microenvironment. We performed DNA methylation in 21 tumor samples from 18 subjects with a histological diagnosis of PXA. MethylCIBERSORT was used to deconvolute the PXA microenvironment by analyzing the associated immune cell-types. Median age at diagnosis was 16 years (range 7–32). At median follow-up of 30 months, 3-year and 5-year overall survival was 73% and 71%, respectively. Overall survival ranged from 1 to 139 months. Eleven out of 18 subjects (61%) showed disease progression. Progression-free survival ranged from 1 to 89 months. Trisomy 7 and CDKN2A/B (p16) homozygous deletion did not show any association with overall survival (p = 0.67 and p = 0.74, respectively). Decreased overall survival was observed for subjects with tumors lacking the BRAF V600E mutation (p = 0.02). PXAs had significantly increased CD8 T-cell epigenetic signatures compared with previously profiled gangliogliomas (p = 0.0019). The characterization of immune cell-types in PXAs may have implications for future development of immunotherapy.

Dual BRAF/MEK therapy in BRAF V600E-mutated primary brain tumors: a case series showing dramatic clinical and radiographic responses and a reduction in cutaneous toxicity

2020 ◽  
Vol 133 (6) ◽  
pp. 1704-1709 ◽  
Author(s):  
Aaron Bernstein ◽  
Oliver D. Mrowczynski ◽  
Amrit Greene ◽  
Sandra Ryan ◽  
Catherine Chung ◽  
...  
Keyword(s):  
Brain Tumors ◽  
Pilocytic Astrocytoma ◽  
Case Series ◽  
Mek Inhibitor ◽  
Pleomorphic Xanthoastrocytoma ◽  
Inhibitor Therapy ◽  
Braf V600e ◽  
Dual Inhibitor ◽  
Cutaneous Toxicity ◽  
Primary Brain Tumors

OBJECTIVEBRAF V600E is a common oncogenic driver in a variety of primary brain tumors. Dual inhibitor therapy using dabrafenib (a selective oral inhibitor of several mutated forms of BRAF kinase) and trametinib (a reversible inhibitor of MEK1 and MEK2) has been used successfully for treatment of metastatic melanoma, anaplastic thyroid cancer, and other tumor types, but has been reported in only a few patients with primary brain tumors and none with pleomorphic xanthoastrocytoma. Here, the authors report on the substantial clinical response and reduction in cutaneous toxicity in a case series of BRAF V600E primary brain cancers treated with dual BRAF/MEK inhibitor therapy.METHODSThe authors treated 4 BRAF V600E patients, each with a different type of primary brain tumor (pilocytic astrocytoma, papillary craniopharyngioma, ganglioglioma, and pleomorphic xanthoastrocytoma) with the combination of dabrafenib and trametinib.RESULTSThe patients with pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and papillary craniopharyngioma experienced near-complete radiographic and complete clinical responses after 8 weeks of therapy. A substantial partial response (by RANO [Response Assessment in Neuro-Oncology] criteria) was observed in the patient with ganglioglioma. The patient with craniopharyngioma developed dramatic, diffuse verrucal keratosis within 2 weeks of starting dabrafenib. This completely resolved within 2 weeks of adding trametinib.CONCLUSIONSDual BRAF/MEK inhibitor therapy represents an exciting treatment option for patients with BRAF V600E primary brain tumors. In addition to greater efficacy than single-agent dabrafenib, this combination has the potential to mitigate cutaneous toxicity, one of the most common and concerning BRAF inhibitor–related adverse events.

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