A rare occurrence of an epithelioid glioblastoma in a pediatric patient: case report and review of the literature

Beutler, Timothy; Krishnamurthy, Satish; Tovar-Spinoza, Zulma

doi:10.1007/s00381-021-05304-7

Cited by 1 publication

(3 citation statements)

References 9 publications

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“…1,11 In the cohort analyzed, it is particularly striking that Beutler's one and Kleinschmidit's three patients remained alive and without tumor recurrence 5 years after diagnosis. 10,44 Conversely, more than half of the patients had succumbed to the E-GBM with an average time from diagnosis to death of only 7.2 months. Moreover, the 5-year survival rate following diagnosis was as low as 4.2%, a figure lower than that reported in conventional glioblastomas (6.9%).…”

Section: Discussionmentioning

confidence: 99%

“…A thorough PubMed search was performed using the English keywords “epithelioid glioblastoma,” “ BRAF mutation and glioblastoma/malignant glioma,” and “ BRAF mutant glioblastoma/malignant glioma.” A total of 211 patients providing information about the tumor BRAF mutation status were compiled, this figure including 134 well-described individual reports, 6,10,12‐14,16‐47 in addition to 77 patients generally described in two clinical series. 4,11 The cases that had been published more than one time were only included once in the cohort.…”

Section: Literature Review Of E-gbm Tumors Providing Braf Mutation An...mentioning

confidence: 99%

“…Given the promising role that BRAF mutations might play in designing future adjuvant therapies for this as yet not well-characterized glioblastoma subtype, we have also systematically reviewed the individual E-GMB cases and series published to date with such molecular information, totaling 211 patients (Table 1). 4,6,10‐14,16‐47 This cohort comprises the largest series ever analyzed of E-GBM providing the BRAF mutation status. The influence that this mutation has on patient outcomes along with the epidemiology, tumor topography, and treatment strategy were investigated.…”

Section: Introductionmentioning

confidence: 99%

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The Significance of BRAF Mutation in the Epithelioid Glioblastoma Subtype: A Systematic Literature Review and a Case Report with a Unique Intraventricular Topography

Prieto,

Barrios,

Ebrat-Mancilla

et al. 2023

Int J Surg Pathol

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Epithelioid glioblastoma (E-GBM) is an exceedingly rare subtype of isocitrate dehydrogenase (IDH)-wildtype glioblastoma, first included in the WHO 2016 classification and characterized by a dominant population of epithelioid cells. Its histological and molecular defining features remain troublesome. The significance of BRAF mutations to pathological diagnosis and surgical outcome has drawn increasing attention given their promising potential for future adjuvant therapies. Herein, we describe a unique case of an E-GBM in the atrium of the left lateral ventricle and comprehensively analyze the importance of BRAF status in a cohort of 211 E-GBMs from the literature. Our patient was a 40-year-old man with occipital pain. His brain MRI revealed a large intraventricular tumor at the same location as a signal change found 10 years earlier with no additional follow-up. He underwent gross total tumor removal followed by conventional adjuvant treatment. Histopathological diagnosis was consistent with IDH-wildtype E-GBM WHO grade 4 with pleomorphic xanthoastrocytoma-like areas. BRAF p.V600 mutation was demonstrated in the tumoral genetic study. In the cohort analyzed, male patients predominated (63%), the median age was 32 years old, and the 5-year survival rate following diagnosis was 4.2%. BRAF mutations were found in 60.3% of the tumors overall, with this rate increasing to 78.3% in young adults (19-49 years, P < .001). Presence of BRAF mutations associated with tumor progression ( P = .001), the event usually leading to death ( P < .001). In conclusion, our study supports the importance of genetic BRAF p.V600 mutation analysis because its presence not only points to an E-GBM diagnosis but may also promote tumor progression.

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Section: Discussionmentioning

confidence: 99%

Section: Literature Review Of E-gbm Tumors Providing Braf Mutation An...mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The Significance of BRAF Mutation in the Epithelioid Glioblastoma Subtype: A Systematic Literature Review and a Case Report with a Unique Intraventricular Topography

Prieto,

Barrios,

Ebrat-Mancilla

et al. 2023

Int J Surg Pathol

View full text Add to dashboard Cite

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A rare occurrence of an epithelioid glioblastoma in a pediatric patient: case report and review of the literature

Cited by 1 publication

References 9 publications

The Significance of BRAF Mutation in the Epithelioid Glioblastoma Subtype: A Systematic Literature Review and a Case Report with a Unique Intraventricular Topography

The Significance of BRAF Mutation in the Epithelioid Glioblastoma Subtype: A Systematic Literature Review and a Case Report with a Unique Intraventricular Topography

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