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Clin Chim Acta. 2016 Jun 1;457:106-11. doi: 10.1016/j.cca.2016.04.003. Epub 2016 Apr 9.

A comparative study of EGFR oncogenic mutations in matching tissue and plasma samples from patients with advanced non-small cell lung carcinoma.

Author information

1
Department of Pathology, The Affiliated Cancer Hospital of Zhengzhou University, China; School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China.
2
Department of Molecular Pathology, The Affiliated Cancer Hospital to Zhengzhou University, China.
3
Department of Scientific Research and Foreign Affairs, The Affiliated Cancer Hospital of Zhengzhou University, China.
4
Berry Genomics, Beijing 100015, China.
5
Department of Haematology, The Affiliated Cancer Hospital of Zhengzhou University China. Electronic address: sypdoc@sina.com.
6
Department of Molecular Pathology, The Affiliated Cancer Hospital to Zhengzhou University, China. Electronic address: yongjunguo@hotmail.com.

Abstract

BACKGROUND:

Plasma based EGFR mutation analysis is emerging as a viable alternative to tumour tissue genotyping for patients with non-small cell lung carcinoma (NSCLC). The purpose of the study was to determine the degree of concordance between EGFR genotypes derived from matching tissue and blood samples.

METHODS:

EGFR activating mutations L858R, exon 19 deletions, G719A/C/S and L861Q as well as resistance mutations T790M and exon 20 insertions were co-analysed in 61 matching tissue and blood biopsies collected from NCSLC patients. Tissue and plasma genotyping was performed by amplification refractory mutation system PCR (ARMS-PCR) and circulating single molecule amplification and re-sequencing technology (cSMART), respectively.

RESULTS:

Of the 61 paired samples, 44 (72.1%) were fully concordant, 2 (3.3%) were partially concordant and 15 (24.6%) were discordant for EGFR genotypes. The discordance was bidirectional with tissue and plasma failing to reveal the equivalent mutation in eight and nine cases, respectively. Benchmarking against ARMS-PCR tissue biopsy results as the gold standard, the sensitivity and concordance rates for plasma mutation detection by cSMART assay were 72.7% and 90.2% (L858R), 72.7% and 86.9% (exon 19 deletions) and 100% and 98.4% (T790M).

CONCLUSIONS:

The cSMART assay was highly reliable and accurate for plasma EGFR genotyping. Based on discordance trends, tumour heterogeneity was suspected to be the major factor preventing a concordant diagnosis in matching samples.

KEYWORDS:

Amplification refractory mutation system PCR; Circulating single molecule amplification and re-sequencing technology; Epithelial growth factor receptor; Non-small cell lung carcinoma; Oncogenic mutations

PMID:
27071701
DOI:
10.1016/j.cca.2016.04.003
[Indexed for MEDLINE]

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