Clinical-pathological study of 28 glial and mixed neuronal-glial tumors diagnosed within the first year of life

星形细胞瘤 间变性星形细胞瘤 神经节胶质瘤 病理 多形性黄色星形细胞瘤 毛细胞星形细胞瘤 室管膜瘤 室管膜下巨细胞星形细胞瘤 医学 胶质瘤 间变性 IDH1 免疫组织化学 生物 癫痫 癌症研究 突变 生物化学 精神科 基因
作者
Anna Maria Buccoliero,Chiara Caporalini,Selene Moscardi,Barbara Spacca,Mirko Scagnet,Francesca Castiglione,Iacopo Sardi,Laura Giunti,Lorenzo Genitori
出处
期刊:Clinical Neuropathology [Dustri-Verlag Dr. Karl Feistle]
卷期号:41 (01): 25-34
标识
DOI:10.5414/np301405
摘要

Our purpose was to investigate the incidence of gliomas and neuronal-glial tumors, their outcome, and H3.3K27M, BRAFV600E, and IDH status in children within 1 year of age affected by CNS tumor. We collected 28 consecutive gliomas and mixed tumors. Immunohistochemistry and/or molecular analyses were performed on formalin-fixed/paraffin-embedded specimens. 24 (86%) tumors were supratentorial. 15 (54%) tumors were astrocytomas (5 glioblastomas, 1 anaplastic astrocytoma, 1 pilocytic astrocytoma, 3 pilomixoid astrocytomas, 2 subependymal giant cell astrocytomas, 3 astrocytomas not otherwise specified (NOS)), 4 (14%) were anaplastic ependymomas, and 9 (32%) were mixed tumors (5 gangliogliomas, 2 gangliocytomas, 2 desmoplastic infantile gangliogliomas (DIGs)). Alive patients were: 4 (67%) affected by high-grade astrocytoma (mean follow-up 64 months), 4 (67%) affected by low-grade astrocytoma (mean follow-up 83 months), 2 (67%) affected by astrocytoma NOS (mean follow-up 60 months), 1 (25%) affected by anaplastic ependymoma (follow-up 12 months), and 9 (100%) affected by mixed tumors (mean follow-up 74 months). H3.3K27M and IDH were not-mutated in any tumor (100%). BRAFV600E mutation was documented in 6 (21%) tumors (4 gangliogliomas, 1 gangliocytoma, and 1 astrocytoma NOS resulted as anaplastic pleomorphic xanthoastrocytoma 8 years later). Gliomas and mixed tumors diagnosed within 1 year of age are morphologically heterogeneous. Moreover, analogously to those affecting older children, they are IDH1-2 and H3.3K27M (when located outside midline) not-mutated while BRAFV600E mutation is typical of gangliogliomas/gangliocytomas and pleomorphic xanthoastrocytomas. High-grade astrocytomas have a more favorable prognosis compared with the same lesions occurring later in life while ependymomas have a poorer outcome.

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