Kikuchi T, Rempel S A, Rutz H P, de Tribolet N, Mulligan L, Cavenee W K, Jothy S, Leduy L, Van Meir E G
Laboratoire de Génétique et Biologie des Tumeurs, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Cancer Res. 1993 Mar 1;53(5):957-61.
The term "Turcot's syndrome" has been used to describe approximatively 55 patients with an association of colonic polyposis and primary neuroepithelial tumors of the central nervous system. The p53 tumor suppressor gene is a possible candidate underlying the syndrome because (a) mutations in the p53 gene are ubiquitous in human cancer, including colon carcinoma and gliomas, and (b) somatic or germ line mutations of the p53 tumor suppressor gene cause the Li-Fraumeni syndrome, which is characterized by the association of breast and soft tissue tumors. We determined the DNA sequence of the conserved regions of the p53 gene (exons 5 to 9) in the tumor tissues and lymphocytes of two patients with glioma-polyposis and found that mutations did occur as independent tumor-specific alterations but did not involve the germ line of these patients, suggesting that p53 may play a role in progression but not initiation of the disease.
术语“Turcot综合征”已被用于描述约55例患有结肠息肉病与中枢神经系统原发性神经上皮肿瘤相关联的患者。p53肿瘤抑制基因可能是该综合征的潜在候选基因，原因如下：(a)p53基因的突变在人类癌症中普遍存在，包括结肠癌和神经胶质瘤；(b)p53肿瘤抑制基因的体细胞或种系突变会导致李-佛美尼综合征，其特征为乳腺癌和软组织肿瘤相关联。我们测定了两名患有神经胶质瘤-息肉病患者的肿瘤组织和淋巴细胞中p53基因保守区域（外显子5至9）的DNA序列，发现突变确实作为独立的肿瘤特异性改变发生，但不涉及这些患者的种系，这表明p53可能在疾病进展中起作用，但在疾病起始过程中不起作用。
