Leone P E, Bello M J, Mendiola M, Kusak M E, De Campos J M, Vaquero J, Sarasa J L, Pestana A, Rey J A
Instituto de Investigaciones Biomedicas (CSIC), Madrid, Spain.
Int J Mol Med. 1998 May;1(5):889-92. doi: 10.3892/ijmm.1.5.889.
Schwannomas are common benign tumours of schwann cell origin, frequently found in patients with neurofibromatosis type 2 (NF2). Inactivation of the NF2 tumour suppressor gene appears to be a molecular event responsible for the development of up to 60% of cases, but no data are available on other superimposed secondary or alternative molecular abnormalities in those schwannomas lacking NF2 gene inactivation. We analysed 23 sporadic schwannomas for mutations in the NF2 gene and for the allelic status at 1p, 14q and 22q, as alterations of these genomic regions appear to be related to tumour progression in meningiomas, another NF2-associated neoplasm. Nine samples displayed allelic losses for markers on chromosome 22, and deletions at 1p were detected in two. No case showed losses for 14q. Three tumours displayed NF2 gene mutations, at exons 2, 7 and 12. Our results confirm that inactivation of the NF2 gene is a primary event in schwannoma development, and provide data suggesting that allelic loss at 1p may contribute to the pathogenesis of a small subgroup of this histological tumour type.
施万细胞瘤是常见的源自施万细胞的良性肿瘤，在2型神经纤维瘤病（NF2）患者中经常发现。NF2肿瘤抑制基因的失活似乎是高达60%病例发生发展的分子事件，但对于那些缺乏NF2基因失活的施万细胞瘤中其他叠加的继发性或替代性分子异常情况，尚无相关数据。我们分析了23例散发性施万细胞瘤的NF2基因突变情况以及1p、14q和22q的等位基因状态，因为这些基因组区域的改变似乎与另一种NF2相关肿瘤——脑膜瘤的肿瘤进展有关。9个样本显示22号染色体上标记的等位基因缺失，2个样本检测到1p缺失。未发现14q缺失的病例。3个肿瘤在第2、7和12外显子处显示NF2基因突变。我们的结果证实NF2基因失活是施万细胞瘤发生发展的主要事件，并提供数据表明1p等位基因缺失可能在这一组织学肿瘤类型的一小亚组发病机制中起作用。
