PDF(Pubmed)
Abstract：
EGFR amplification in gliomas is commonly defined by an EGFR/CEP7 ratio of ≥2. In testing performed at a major reference laboratory, a small subset of patients had ≥5 copies of both EGFR and CEP7 yet were not amplified by the EGFR/CEP7 ratio and were designated high polysomy cases. To determine whether these tumors are more closely related to traditionally defined EGFR-amplified or nonamplified gliomas, a retrospective search identified 22 out of 1143 (1.9%) gliomas with an average of ≥5 copies/cell of EGFR and CEP7 with an EGFR/CEP7 ratio of <2 displaying high polysomy. Of these cases, 4 had insufficient clinicopathologic data to include in additional analysis, 15 were glioblastomas, 2 were IDH-mutant astrocytomas, and 1 was a high-grade glial neoplasm, NOS. Next-generation sequencing available on 3 cases demonstrated one with a TERT promoter mutation, TP53 mutations in all cases, and no EGFR mutations or amplifications, which most closely matched the nonamplified cases. The median overall survival times were 42.86, 66.07, and 41.14 weeks for amplified, highly polysomic, and nonamplified, respectively, and were not significantly different (p = 0.3410). High chromosome 7 polysomic gliomas are rare but our data suggest that they may be biologically similar to nonamplified gliomas.
摘要：
神经胶质瘤中的EGFR扩增通常定义为EGFR/CEP7比值≥2。在主要参考实验室进行的测试中，一小部分患者有≥5个EGFR和CEP7拷贝,但未通过EGFR/CEP7比值扩增,并被指定为高度多体病例.为了确定这些肿瘤是否与传统定义的EGFR扩增或非扩增的神经胶质瘤更密切相关，一项回顾性研究发现,在1143例(1.9%)神经胶质瘤中,EGFR和CEP7的平均拷贝/细胞≥5个,EGFR/CEP7比值<2,表现出高多体.在这些案件中,4名患者的临床病理数据不足以纳入额外分析，15个是胶质母细胞瘤，2个是IDH突变型星形细胞瘤，1是高级别神经胶质肿瘤，NOS.可用于3例的下一代测序显示一个具有TERT启动子突变，TP53突变在所有情况下，没有EGFR突变或扩增，最接近非扩增病例。放大后的中位总生存时间为42.86、66.07和41.14周，高度多生体，和非扩增，分别,并且没有显着差异（p=0.3410）。高7号染色体多体神经胶质瘤很少见，但我们的数据表明它们可能与非扩增性神经胶质瘤在生物学上相似。
