印度头颈癌患者中 PIK3CA H1047R 体细胞突变的发生率及其影响

IF 4.4 2区 生物学 Q1 Agricultural and Biological Sciences Saudi Journal of Biological Sciences Pub Date : 2024-05-27 DOI:10.1016/j.sjbs.2024.104029
Arjita Ghosh , Anbalagan Moorthy
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引用次数: 0

摘要

是包括头颈部鳞状细胞癌(HNSCC)在内的多种癌症突变基因之一。H1047R 是一种热点体细胞突变,在多种癌症中发生率最高。本研究筛选了印度 HNSCC 患者中 H1047R 突变的分布情况,并分析了其对疾病进展和治疗反应的影响。从 HNSCC 患者(n = 48)的肿瘤活检组织中提取基因组 DNA,并使用聚合酶链式反应耦合限制性片段长度多态性(PCR-RFLP)技术筛查突变。计算了患者的总生存期(OS)和无进展生存期(PFS),以研究该突变对生存期和治疗反应的影响。结果显示,无论患者的标准如何,25 名患者(52%)携带杂合型突变(His/Arg),其余患者(48%)为野生型(His/His)。突变患者的平均OS为20.451个月(SE ± 1.710个月),而野生型患者的平均OS为26.31个月(SE ± 2.431)。突变患者的 PFS 为 18.612 个月(SE ± 2.072),野生型人群为 26.31 个月(SE ± 2.431)。这些观察结果表明,H1047R突变的印度HNSCC患者预后较差。
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Prevalence and effect of PIK3CA H1047R somatic mutation among Indian head and neck cancer patients

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.

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来源期刊
CiteScore
9.30
自引率
4.50%
发文量
551
审稿时长
34 days
期刊介绍: Saudi Journal of Biological Sciences is an English language, peer-reviewed scholarly publication in the area of biological sciences. Saudi Journal of Biological Sciences publishes original papers, reviews and short communications on, but not limited to: • Biology, Ecology and Ecosystems, Environmental and Biodiversity • Conservation • Microbiology • Physiology • Genetics and Epidemiology Saudi Journal of Biological Sciences is the official publication of the Saudi Society for Biological Sciences and is published by King Saud University in collaboration with Elsevier and is edited by an international group of eminent researchers.
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