Gessi Marco, Gielen Gerrit H, Denkhaus Dorota, Antonelli Manila, Giangaspero Felice, Zur Mühlen Anja, Japp Anna Sophia, Pietsch Torsten
Institute of Neuropathology, University of Bonn Medical Center, Sigmund-Freud-Straße 25, 53127, Bonn, Germany,
Virchows Arch. 2015 Jul;467(1):105-9. doi: 10.1007/s00428-015-1774-z. Epub 2015 Apr 21.
Glioblastoma, the most common primary brain tumor in adults, may rarely show among unusual histological patterns lipoblast/adipocyte-like features. The genetic features of such cases are not yet well characterized, and molecular data are available for only few cases. In order to further expand our knowledge about their molecular profile, we analyzed four cases of glioblastoma with adipocyte-like features. Multiplex ligation-dependent probe amplification (MLPA) revealed loss of PTEN and MDM2 amplification in two cases while another case was characterized by CDKN2A deletion. Conversely, we did not find any evidence of EGFR amplification, BRAF (V600E) or IDH1/2 mutations. Our results, along with data published in previous studies, showed that glioblastoma with lipoblast/adipocyte-like cytology present a heterogeneous genetic background and therefore seem to represent more a rare phenotypic variant than a specific tumor subtype.
胶质母细胞瘤是成人中最常见的原发性脑肿瘤,在不常见的组织学模式中可能很少表现出脂肪母细胞/脂肪细胞样特征。此类病例的基因特征尚未得到充分表征,仅有少数病例有分子数据。为了进一步扩展我们对其分子谱的认识,我们分析了4例具有脂肪细胞样特征的胶质母细胞瘤。多重连接依赖探针扩增(MLPA)显示2例存在PTEN缺失和MDM2扩增,而另1例的特征是CDKN2A缺失。相反,我们未发现任何表皮生长因子受体(EGFR)扩增、BRAF(V600E)或异柠檬酸脱氢酶1/2(IDH1/2)突变的证据。我们的结果与先前研究发表的数据一起表明,具有脂肪母细胞/脂肪细胞样细胞学特征的胶质母细胞瘤呈现出异质性的基因背景,因此似乎更多地代表一种罕见的表型变异,而非一种特定的肿瘤亚型。