关键词: EGFR mutation Pyrosequencing Real Time PCR S768I intratumoral heterogeneity

来  源:   DOI:10.1016/j.rmcr.2023.101871   PDF(Pubmed)

Abstract:
UNASSIGNED: We herein report the case of a patient with advanced lung adenocarcinoma who presented a heterogeneous distribution of EGFR mutation.
UNASSIGNED: A 74-year-old Moroccan male former smoker was diagnosed with advanced lung adenocarcinoma, harboring S768I exon 20 substitution mutation confirmed by Real Time PCR and Pyrosequencing, but not detected by direct sequencing despite 70% of tumor cells. The present report describes a case of minor histologic intratumoral heterogeneity with heterogeneous distribution of EGFR mutation.
UNASSIGNED: Both sensitivity and specificity of molecular methods can provide evidence of intratumoral heterogeneity, which may explain the mismatch between the validation of oncology biomarkers and predicting therapeutic response to targeted therapy.
摘要:
我们在此报告一例晚期肺腺癌患者,其EGFR突变呈异质性分布。
一名74岁的摩洛哥男性前吸烟者被诊断为晚期肺腺癌,通过实时PCR和焦磷酸测序确认的S768I外显子20置换突变,但未通过直接测序检测到,尽管70%的肿瘤细胞。本报告描述了一个轻微的组织学肿瘤内异质性与EGFR突变的异质性分布。
分子方法的敏感性和特异性都可以提供肿瘤内异质性的证据,这可能解释了肿瘤学生物标志物的验证与预测靶向治疗的治疗反应之间的不匹配。
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