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Abstract：
PIK3CA is one among the several mutated genes in cancer, including head and neck squamous cell carcinoma (HNSCC). H1047R is a hotspot somatic mutation in PIK3CA that occurs most frequently in several forms of cancers. Distribution of PIK3CA H1047R mutation in Indian HNSCC patients was screened and its effect on disease progression and response to treatment was analysed in this study. Genomic DNA was extracted from tumour biopsies of HNSCC patients (n = 48) and polymerase chain reaction coupled restriction fragment length polymorphism (PCR-RFLP) technique was used to screen for the mutation. Overall survival (OS) and Progression-free survival (PFS) of the patients were calculated in order to study effect of this mutation on survival and response to treatment respectively. Results showed that irrespective of patients\' criteria, twenty-five patients (52 %) carried a heterozygous form of mutation (His/Arg) and the rest (48 %) were wild type (His/His). The mean OS of the cohort with the mutation was 20.451 months (SE ± 1.710 months) while 26.31 months (SE ± 2.431) was in wild type population. PFS of the patients with the mutation was 18.612 months (SE ± 2.072), and for the wild type population, it was 26.31 months (SE ± 2.431). These observations suggest that Indian HNSCC patients with PIK3CA H1047R mutation have poor prognosis.
摘要：
PIK3CA是癌症中几种突变基因之一，包括头颈部鳞状细胞癌（HNSCC）。H1047R是PIK3CA中的热点体细胞突变，在几种癌症中最常见。本研究筛选了印度HNSCC患者中PIK3CAH1047R突变的分布，并分析了其对疾病进展和治疗反应的影响。从HNSCC患者（n=48）的肿瘤活检中提取基因组DNA，并使用聚合酶链反应偶联限制性片段长度多态性（PCR-RFLP）技术筛选突变。计算患者的总生存期（OS）和无进展生存期（PFS），以分别研究该突变对生存率和对治疗反应的影响。结果显示，无论患者的标准如何，25例患者(52%)携带杂合形式的突变(His/Arg),其余患者(48%)为野生型(His/His).具有突变的队列的平均OS为20.451个月（SE±1.710个月），而野生型人群为26.31个月（SE±2.431）。突变患者的PFS为18.612个月(SE±2.072),对于野生型种群，为26.31个月(SE±2.431)。这些观察结果表明，具有PIK3CAH1047R突变的印度HNSCC患者预后不良。
