Department 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.
Department of Pathology, Xiangya Hospital, Central South University, Changsha 410008, China.
Hum Pathol. 2019 Apr;86:38-48. doi: 10.1016/j.humpath.2018.08.038. Epub 2018 Nov 26.
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.
多形性黄色星形细胞瘤（PXA）是一种罕见的中枢神经系统肿瘤，主要发生在儿童和年轻成年人中。对 295 个癌症相关基因进行下一代测序，以研究 13 例 PXA 的分子谱。我们发现 BRAF V600E（5/13；38%）、FANCA/D2/I/M（5/13；38%）、PRKDC（4/13；31%）、NF1（3/13；23%）和 NOTCH2/3/4（3/13；23%）改变是最常见的体细胞基因突变。然而，在神经胶质瘤中经常存在的 PTEN 或 EGFR 突变未被检测到。KRAS 突变在这些肿瘤中是首次报道。所有病例均存在微卫星稳定性。由于 FANCA 和 BRAF 的突变以及 CDKN2A/B 的拷贝数变异在 PXA 中比在神经胶质瘤中更为常见，因此它们可能用于区分这两种肿瘤。MAPK 通路参与 PXA 的发病机制，可能是治疗的有效靶点。
