Cogen P H, Daneshvar L, Bowcock A M, Metzger A K, Cavalli-Sforza L L
Department of Neurological Surgery, School of Medicine, University of California, San Francisco.
Cancer Genet Cytogenet. 1991 Jun;53(2):271-7. doi: 10.1016/0165-4608(91)90104-3.
Monosomy of chromosome 22 in meningioma was the first consistent cytogenetic anomaly reported for a solid tumor. Although most meningiomas are isolated sporadic lesions, multiple and familial occurrences have been reported, usually in cases of documented neurofibromatosis 2 (NF2). Previous reports have placed the NF2 locus on chromosome 22, flanked by the markers D22S1 and D22S28. We report a restriction fragment-length polymorphism study of 16 meningiomas conducted using chromosome 22 probes. None of the patients had clinical findings or a family history of NF2, although two of them eventually developed multiple intracranial meningiomas. Detectable loss of chromosome 22 sequences was observed in 50% of informative patients. Deletion mapping of tumors with preserved sequences showed that the loss of chromosome 22 DNA overlapped the region previously linked to NF2, but also included a sequence distal to the NF2 locus. These results suggest that the oncogenesis of human meningioma involves inactivation of a chromosome 22 locus that may be in close proximity to the gene for NF2.
22号染色体单体性是在实体瘤中报道的首个一致的细胞遗传学异常。尽管大多数脑膜瘤是孤立的散发性病变,但也有关于多发和家族性病例的报道,通常见于已确诊为2型神经纤维瘤病(NF2)的患者。先前的报告已将NF2基因座定位于22号染色体,两侧为标记D22S1和D22S28。我们报告了一项使用22号染色体探针进行的16例脑膜瘤的限制性片段长度多态性研究。尽管其中两名患者最终发展为多发颅内脑膜瘤,但所有患者均无NF2的临床症状或家族史。在50%的信息丰富的患者中观察到22号染色体序列的可检测性缺失。对保留序列的肿瘤进行缺失图谱分析表明,22号染色体DNA的缺失与先前与NF2相关的区域重叠,但也包括NF2基因座远端的一个序列。这些结果表明,人类脑膜瘤的肿瘤发生涉及22号染色体上一个可能与NF2基因紧密相邻的基因座的失活。