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Updated: Feb 1, 2026
Molecular Evolution of the Tre Recombinase
Published on: May 29, 2008
Molecular features of pleomorphic xanthoastrocytoma
Han Zou1, Yumei Duan2, Dongliang Wei3
1Department of Eight-Grade Clinical Medicine, Xiangya Medical School, Central South University, Changsha 410008, China; Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha 410008, China.
Abstract:
Pleomorphic xanthoastrocytoma (PXA) is a rare central nervous system tumor occurring mostly in children and young adults. Next-generation sequencing of 295 cancer-related genes was used to investigate the molecular profiles of 13 cases of PXA. We found that BRAF V600E (5/13; 38%), FANCA/D2/I/M (5/13; 38%), PRKDC (4/13; 31%), NF1 (3/13; 23%), and NOTCH2/3/4 (3/13; 23%) alterations were the most frequent somatic gene mutations. However, neither PTEN nor EGFR mutation, which is frequently present in glioblastoma, was detected. The KRAS mutation in PXA is reported for the first time in these tumors. Microsatellite stability was present in all cases. Because mutations of FANCA and BRAF and copy number variations of CDKN2A/B are more frequent in PXA than in glioblastoma, they might be used to distinguish the 2 tumors. The MAPK pathway is involved in the pathogenesis of PXA and may be an effective target for treatment.
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