Systematic Review and Individual Patient Data Analysis of Uncommon Variants of Glioblastoma: An Analysis of 196 Cases

Mallick, Supriya; Benson, Rony; Venkatesulu, BhanuPrasad; Melgandi, Wineeta; Rath, G.K.

doi:10.4103/0028-3886.359222

Cited by 1 publication

(4 citation statements)

References 62 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1,3 It is considered the rarest subtype of glioblastoma, ranging from 3%-8%. 2,6 The few reports and small series published to date support that E-GBM associates an even more aggressive behavior than classic glioblastoma due to early recurrence, leptomeningeal spread, or metastasis outside the CNS. 2,5,6,16,22,31 In-depth knowledge of E-GBM, however, has proved elusive due to its rarity.…”

Section: Discussionmentioning

confidence: 99%

“…2,6 The few reports and small series published to date support that E-GBM associates an even more aggressive behavior than classic glioblastoma due to early recurrence, leptomeningeal spread, or metastasis outside the CNS. 2,5,6,16,22,31 In-depth knowledge of E-GBM, however, has proved elusive due to its rarity. Some authors consider it as a provisional entity that encompasses three distinct DNA methylation subclasses with different molecular/genetic profiles and biological behaviors.…”

Section: Discussionmentioning

confidence: 99%

“…Epithelioid glioblastoma (E-GBM) is an extremely rare histological subtype of glioblastoma dominated by a relatively uniform population of epithelioid cells. 1,2 It was not formally included in the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS) until 2016. 3 An accurate pathological diagnosis continues to be troublesome, particularly due to the overlapping morphological and molecular features between E-GBMs and pleomorphic xanthoastrocytomas (PXAs).…”

Section: Introductionmentioning

confidence: 99%

“…1,4 Diagnostic certainty is, however, paramount for planning treatment and follow-up strategies given their different prognoses, with E-GBMs associating even worse outcomes than classic glioblastomas. 2,5,6 Although exceptional, a location within the ventricular system, where E-GBMs may resemble benign tumors, also makes a correct neuroradiological diagnosis quite challenging. [5][6][7][8][9][10][11][12][13][14] Moreover, the intraventricular location usually poses technical difficulties to achieving gross total surgical removal, a widely recognized major predictor for patient survival.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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

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.

show abstract