Malignant transformation of pleomorphic xanthoastrocytoma and differential diagnosis: case report

BMC Neurology

Table 2 Genetic comparison among the different disease entities

	GBM (wild type)	E-GBM	PXA	APXA	Present case (1st resection)	Present case (2nd resection)
1p/19q	NA	NA	NA	NA	Intact	1p; intact, 19q; deletion
BRAF V600E	7.7~9.1% [6, 10]	16.6~93% [11, 13, 14]	63~75% [1, 7]	46.2~57% [1, 3]	Positive (MAF, 16%)	Positive (MAF, 49%)
CDKN2A/B homozygous deletion	NA	79% [11]	60~83% [2, 8]	93% [7]	Intact	Positive
TERT promoter mutation	54% [11]	71% [11]	4% [11]	23% [11]	Negative	Negative

GBM glioblastoma, E-GBM epithelioid glioblastoma, PXA pleomorphic xanthoastrocytoma, APXA anaplastic PXA, MAF mutant allele frequency, NA not available

ISSN: 1471-2377