Cogen P H, Daneshvar L, Metzger A K, Edwards M S
Department of Neurological Surgery, School of Medicine, University of California, San Francisco 94143.
Genomics. 1990 Oct;8(2):279-85. doi: 10.1016/0888-7543(90)90283-z.
Isochromosome 17q has previously been observed consistently in cytogenetic studies of medulloblastoma, the most common posterior fossa neoplasm in children. We performed a restriction fragment length polymorphism (RFLP) investigation of medulloblastoma which showed a loss of chromosome 17p sequences in 45% of these tumors. This finding was predictive of a poor clinical response to treatment. A contiguous panel of markers permitted mapping of the deletion to 17p12-p13.1, the same chromosomal region for which loss of alleles has been shown in tumor specimens from patients with colon cancer, and the same region to which the p53 gene has been mapped. This suggests that medulloblastoma is associated with a recessive oncogene on chromosome 17p that may be involved in the genesis of several embryologically unrelated neoplasms and that the absence of this gene in tumor tissue has prognostic significance.
17号等臂染色体先前在髓母细胞瘤的细胞遗传学研究中一直被观察到，髓母细胞瘤是儿童中最常见的后颅窝肿瘤。我们对髓母细胞瘤进行了限制性片段长度多态性（RFLP）研究，结果显示45%的这些肿瘤存在17号染色体短臂序列缺失。这一发现预示着对治疗的临床反应较差。一组相邻的标记物允许将缺失定位到17p12 - p13.1，这与结肠癌患者肿瘤标本中显示等位基因缺失的染色体区域相同，也是p53基因所在的区域。这表明髓母细胞瘤与17号染色体短臂上的一个隐性癌基因相关，该基因可能参与了几种胚胎学上无关的肿瘤的发生，并且肿瘤组织中该基因的缺失具有预后意义。
