Wessels Peter H, Twijnstra Albert, Kessels Alfons G H, Krijne-Kubat Bela, Theunissen Paul H, Ummelen Monique I J, Ramaekers Frans C S, Hopman Anton H
Department of Neurology, University Hospital Maastricht, Maastricht, Netherlands.
Genes Chromosomes Cancer. 2002 Mar;33(3):279-84. doi: 10.1002/gcc.10029.
The clinical course of astrocytoma grade 2 (A2) is highly variable and is not reflected by morphological characteristics. Earlier studies using small series of A2 cases suggest that in situ hybridization (ISH) with chromosome-specific DNA probes allows for frequent detection of aneusomy 1, trisomy 7, and monosomy 10. The role of trisomy 7 in astrocytoma carcinogenesis is disputed, however, because of its presence in non-neoplastic brain tissue, as detected by karyotyping. Our objective was to investigate whether there was a correlation between chromosomal aberrations and survival in a series of 47 cases of A2. All cases were evaluated for numerical aberrations of chromosomes 1, 7, and 10 by ISH. Chromosomal aberrations were detected in 68% of cases of A2. Trisomy/polysomy 7 was seen in 31 cases (66%), 22 of which (47%) had a high percentage of this numerical aberration. Only 11 of these 22 cases also showed aneusomy for 1 or 10. No cells or only a few cells with aberrations were detected in non-neoplastic control samples. Using Kaplan-Meier analysis, trisomy/polysomy 7 correlated significantly with shorter survival. Hence, as determined by ISH, trisomy/polysomy 7 is absent in non-neoplastic brain tissue and is frequently detected in A2, correlating with the malignant progression of the disease.
2级星形细胞瘤（A2）的临床病程高度可变，且无法通过形态学特征反映出来。早期对少量A2病例的研究表明，使用染色体特异性DNA探针进行原位杂交（ISH）能够频繁检测到1号染色体非整倍体、7号染色体三体和10号染色体单体。然而，7号染色体三体在星形细胞瘤致癌过程中的作用存在争议，因为通过核型分析在非肿瘤性脑组织中也检测到了它的存在。我们的目的是研究在47例A2病例中染色体畸变与生存之间是否存在相关性。所有病例均通过ISH评估1号、7号和10号染色体的数目畸变。在68%的A2病例中检测到了染色体畸变。31例（66%）出现了7号染色体三体/多体，其中22例（47%）该数目畸变的比例较高。这22例中只有11例还显示出1号或10号染色体非整倍体。在非肿瘤性对照样本中未检测到有畸变的细胞或仅有少数有畸变的细胞。使用Kaplan-Meier分析，7号染色体三体/多体与较短的生存期显著相关。因此，通过ISH确定，7号染色体三体/多体在非肿瘤性脑组织中不存在，而在A2中经常被检测到，与疾病的恶性进展相关。
