da Costa Andrade Valéria Cristina, Parise Orlando, Hors Cora Pereira, de Melo Martins Poliana Cristina, Silva Alexandre Pacheco, Garicochea Bernardo
Laboratory of Molecular Genetics, Sao Paulo, Brazil.
Exp Mol Pathol. 2007 Feb;82(1):53-7. doi: 10.1016/j.yexmp.2006.05.003. Epub 2006 Nov 3.
The increased expression of the fibroblast growth factor receptor 4 (FGFR4) has been identified in many human cancers. Recently, a single nucleotide polymorphism changing the sense codon 388 from glycine to arginine was identified in the FGFR4 gene. The FGFR4 Arg(388) allele was found to be associated with a poor prognosis for positive node breast cancer, high-grade soft-tissue sarcoma, colon carcinoma, and head and neck squamous cell carcinoma (HNSCC).
We decided to verify the impact of the FGFR4 Arg(388) allele on survival as well as its association with histoclinical data in 75 cases of HNSCC. The FGFR4 Arg(388) allele was detected by PCR-RFLP and DNA sequencing.
The FGFR4 Arg(388) allele was detected in 42.5% of the tumors (37% heterozygous Gly/Arg and 5.5% homozygous Arg/Arg). The presence of at least one Arg allele was significantly correlated with reduced overall survival after 24 months of follow-up. The cases involving the Arg allele presented an increased mortality risk of 2.2 if compared to the non-carrier cases.
The FGFR4 Arg(388) allele is associated with a shortened survival.
在许多人类癌症中已发现成纤维细胞生长因子受体4（FGFR4）的表达增加。最近，在FGFR4基因中鉴定出一个单核苷酸多态性，该多态性将第388位有义密码子由甘氨酸变为精氨酸。发现FGFR4 Arg（388）等位基因与阳性淋巴结乳腺癌、高级别软组织肉瘤、结肠癌和头颈部鳞状细胞癌（HNSCC）的不良预后相关。
我们决定在75例HNSCC病例中验证FGFR4 Arg（388）等位基因对生存的影响及其与组织临床数据的关联。通过PCR-RFLP和DNA测序检测FGFR4 Arg（388）等位基因。
在42.5%的肿瘤中检测到FGFR4 Arg（388）等位基因（37%为杂合子Gly/Arg，5.5%为纯合子Arg/Arg）。在随访24个月后，至少存在一个Arg等位基因与总生存率降低显著相关。与非携带者病例相比，携带Arg等位基因的病例死亡风险增加2.2倍。
FGFR4 Arg（388）等位基因与生存期缩短有关。
