多形性黄色星形细胞瘤
神经纤维瘤病
突触素
ATRX公司
癌症研究
病理
神经纤维蛋白1
纽恩
生物
医学
免疫组织化学
胶质瘤
星形细胞瘤
突变
基因
遗传学
作者
Masayuki Shintaku,Tetsuo Hashiba,Masahiro Nonaka,Akio Asai,Koji Tsuta
摘要
A 45-year-old woman with neurofibromatosis type 1 (NF1) developed a tumor in the left frontal lobe that showed features of giant cell glioblastoma (GC-GB). In addition to the typical GC-GB features, the tumor showed lipogenic differentiation, with many atypical lipoblasts and mature adipocytes. Tumor cells, including the lipogenic cells, were immunoreactive for GFAP, S-100 protein, ATRX, and p53. They were negative for IDH1-R132H, BRAF V600E, synaptophysin, NeuN, p16, mismatch repair proteins, and CD34. The patient is free from recurrence at approximately two years postoperatively. This is the fifth reported case of NF1-associated GC-GB (the second adult case). NF1 gene mutation might have played a role in the pathogenesis of lipogenic differentiation of GC-GB. The differential diagnosis of lipidized GC-GB from gliosarcoma or anaplastic pleomorphic xanthoastrocytoma is briefly discussed.
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