Almeida P S R, Manoel W J, Reis A A S, Silva E R, Martins E, Paiva M V O, Fraga A C, Saddi V A
Departamento de Biologia, Programa de Mestrado em Genética, Universidade Católica de Goiás, Goiânia, GO, Brasil.
Genet Mol Res. 2008;7(4):1344-52. doi: 10.4238/vol7-4gmr497.
Soft tissue sarcomas (STS) are tumors of mesodermal origin, comprising about 1% of all adult neoplasms. Management of such tumors is an important medical challenge. TP53 codon 72 polymorphism results in either the arginine or proline form of the p53 protein; several studies have investigated whether codon 72 polymorphisms are risk and prognostic factors for cancer. We investigated p53 codon 72 polymorphism (Arg72Pro) frequencies with respect to the susceptibility and the clinical outcome of patients with STS. A series of 100 STS were genotyped for the p53 Arg72Pro polymorphism using polymerase chain reaction. Genotype frequencies were compared to a group of 85 healthy donors (controls). Possible associations between polymorphic genotypes, clinicopathological factors and survival of STS patients were also investigated. Genotypic frequencies obtained for STS patients did not significantly differ from that obtained for controls. In the STS group, p53 codon 72 polymorphic variants were not significantly associated with gender, age, tumor size, clinical stage, tumor grade, histology, or nodal or distant metastasis. The five-year overall survival rate for the STS group was 48%; it was significantly affected by tumor grade, clinical stage, and nodal and distant metastasis. Soft tissue sarcoma patients with the Pro/Pro variant had a reduced survival rate (30%), when compared to the p53 Arg/Arg (45%) and the p53 Arg/Pro groups (55%). However, the differences between these groups were not significant (P = 0.44).
软组织肉瘤(STS)是中胚层起源的肿瘤,约占所有成人肿瘤的1%。此类肿瘤的治疗是一项重大医学挑战。TP53基因第72位密码子多态性导致p53蛋白出现精氨酸或脯氨酸形式;多项研究调查了第72位密码子多态性是否为癌症的风险和预后因素。我们针对STS患者的易感性和临床结局,研究了p53基因第72位密码子多态性(Arg72Pro)的频率。采用聚合酶链反应对100例STS进行p53 Arg72Pro多态性基因分型。将基因型频率与一组85名健康供体(对照)进行比较。还研究了多态基因型、临床病理因素与STS患者生存之间的可能关联。STS患者获得的基因型频率与对照组获得的频率无显著差异。在STS组中,p53基因第72位密码子多态性变体与性别、年龄、肿瘤大小、临床分期、肿瘤分级、组织学或淋巴结及远处转移均无显著关联。STS组的五年总生存率为48%;它受肿瘤分级、临床分期以及淋巴结和远处转移的显著影响。与p53 Arg/Arg组(45%)和p53 Arg/Pro组(55%)相比,具有Pro/Pro变体的软组织肉瘤患者生存率降低(30%)。然而,这些组之间的差异不显著(P = 0.44)。