Abstract:
Objective The relationship among X-ray repair cross-complementing group 4 (XRCC4) gene mutations, clinical staging, and radio-therapeutic efficacy in patients with nasopharyngeal carcinoma (NPC) was determined.
Methods The XRCC4 gene mutations were determined using denaturing high performance liquid chromatography in 68 NPC patients. Clinical data including gender, age, histological type, tumor stage (T staging), and survival of patients were collected. The correlations among XRCC4 gene mutation, clinical stages of the disease, local recurrence, distant metastasis, and disease-related death were investigated.
Results Mutations in section 8 of the XRCC4 gene exon were detected in 27 NPC cases, with a mutation rate of 39.7% (27/68). The median follow-up period was 98 (6 to 106) months. The gene exon mutation was related to the T staging. The mutation rates were higher in the locally advanced NPC patients (T3 to T4) than in the early NPC patients (T1 and T2) (χ2 = 4.686, P=0.03). No correlation was observed among the XRCC4 gene exon mutation, nodal staging (N stage), clinical stage, local recurrence, distant metastasis, and disease-related death. The T, N, and clinical stages were the independent prognostic factors for local recurrence, distant metastasis, and disease-specific death, respectively. The XRCC4 gene mutation had no effect on the survival rate.
Conclusion XRCC4 gene exon 8 mutation exists in NPC. This mutation has no relation with the prognosis of the disease but is well correlated with the T stage, which implies its probable involvement in selected stages of nasopharyngeal carcinoma pathogenesis.
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