Gupta Meenakshi, Djalilvand Azita, Brat Daniel J
Department of Pathology and Laboratory Medicine and the Winship Cancer Institute, Emory University School of Medicine, Atlanta, GA 30322, USA.
Am J Clin Pathol. 2005 Nov;124(5):755-68. doi: 10.1309/6JNX-4PA6-0TQ5-U5VG.
Diffuse gliomas are the most common brain tumors and include astrocytomas, oligodendrogliomas, and oligoastrocytomas. Their correct pathologic diagnosis requires the ability to distinguish astrocytic from oligodendroglial differentiation in histologic sections, a challenging feat even for the most experienced neuropathologist. Interobserver variability in the diagnosis of diffuse gliomas has been high owing to subjective diagnostic criteria, overlapping morphologic features, and variations in training and practice among pathologists. A select, albeit imperfect, group of molecular and immunohistochemical tests are available to assist in diagnosis of these lesions. Combined loss of chromosomes 1p and 19q is a genetic signature of oligodendrogliomas, whereas gains of chromosome 7 in the setting of intact 1p/19q are more typical of astrocytomas. Detection of amplified epidermal growth factor receptor favors the diagnosis of high-grade astrocytomas over anaplastic oligodendroglioma, which is especially relevant for small cell astrocytomas. Strong nuclear staining for p53 often reflects TP53 mutation and is typical of low-grade astrocytomas. The Olig family of transcription factors has not demonstrated their diagnostic usefulness. Diffuse gliomas remain a diagnostic challenge, and new markers are needed for proper classification and directed therapies.
弥漫性胶质瘤是最常见的脑肿瘤,包括星形细胞瘤、少突胶质细胞瘤和少突星形细胞瘤。其正确的病理诊断需要在组织学切片中区分星形细胞和少突胶质细胞分化的能力,即使对于最有经验的神经病理学家来说,这也是一项具有挑战性的任务。由于主观诊断标准、形态学特征重叠以及病理学家之间培训和实践的差异,弥漫性胶质瘤诊断中的观察者间变异性一直很高。有一组虽不完美但可供选择的分子和免疫组化检测方法可用于辅助诊断这些病变。1号染色体短臂(1p)和19号染色体长臂(19q)联合缺失是少突胶质细胞瘤的遗传特征,而在1p/19q完整的情况下7号染色体增加更常见于星形细胞瘤。检测表皮生长因子受体扩增有利于诊断高级别星形细胞瘤而非间变性少突胶质细胞瘤,这对于小细胞星形细胞瘤尤为重要。p53强核染色常反映TP53突变,是低级别星形细胞瘤的典型表现。转录因子Olig家族尚未显示出其诊断价值。弥漫性胶质瘤仍然是一个诊断难题,需要新的标志物来进行正确分类和指导治疗。