Whilst not disagreeing with much of the factual content in the recently published
letter by O'Sullivan et al. [
[1]
], we feel that their article fails to consider relevance in a wider clinical context
whilst making unjustifiable comments/recommendations on the basis of a single (n = 1)
and also atypical case report.- O'Sullivan H.
- d'Arienzo P.D.
- Yousaf N.
- Cui W.
- Popat S.
Inadequacy of PCR genotyping in advanced non-small cell lung cancer: EGFR L747_A755delinsSS
exon 19 deletion is not detected by the real-time PCR IdyllaTM EGFR mutation test but is detected by ctDNA next generation sequencing and responds
to osimertinib.
Eur J Cancer. 2022; 166: 38-40
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References
- Inadequacy of PCR genotyping in advanced non-small cell lung cancer: EGFR L747_A755delinsSS exon 19 deletion is not detected by the real-time PCR IdyllaTM EGFR mutation test but is detected by ctDNA next generation sequencing and responds to osimertinib.Eur J Cancer. 2022; 166: 38-40
- Prevalence and breakdown of EGFR exon 20 driver mutations in routine NHS lung cancer diagnostic testing.J Clin Pathol. 2022; 75: 209-210
- Analysis of a large cohort of non-small cell lung cancers submitted for somatic variant analysis demonstrates that targeted next-generation sequencing is fit for purpose as a molecular diagnostic assay in routine practice.J Clin Pathol. 2018; 71: 1001-1006
- Performance evaluation of the Biocartis Idylla EGFR Mutation Test using pre-extracted DNA from a cohort of highly characterised mutation positive samples.J Clin Pathol. 2022; 75: 241-249
- Integration of rapid PCR testing as an adjunct to NGS in diagnostic pathology services within the UK: evidence from a case series of non-squamous, non-small cell lung cancer (NSCLC) patients with follow-up.J Clin Pathol. 2021; : 207987
- Is the current strategy for stratifying patients for targeted therapy use in NSCLC really logical and sustainable? Results from a retrospective study suggest otherwise.Lung Cancer. 2019; 127 (2019): S22
Article info
Publication history
Published online: August 04, 2022
Accepted:
June 17,
2022
Received in revised form:
June 6,
2022
Received:
May 3,
2022
Identification
Copyright
© 2022 Elsevier Ltd. All rights reserved.
ScienceDirect
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- Inadequacy of PCR genotyping in advanced non-small cell lung cancer: EGFR L747_A755delinsSS exon 19 deletion is not detected by the real-time PCR Idylla™ EGFR mutation test but is detected by ctDNA next generation sequencing and responds to osimertinibEuropean Journal of CancerVol. 166
- PreviewActivating alterations in EGFR occur in 5–60% of non–-small cell lung cancer (NSCLC), contingent on ethnicity. Exon 19 deletions and exon 21 L858R mutations account for approximately 85% of tier 1 EGFR variants [1,2]. EGFR tyrosine kinase inhibitors are the recommended first-line treatment, yielding durable responses [3].
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- Response to letter entitled: Re: ‘Inadequacy of PCR genotyping in advanced non-small cell lung cancer: EGFR L747_A755delinsSS exon 19 deletion is not detected by the real-time PCR IdyllaTM EGFR mutation test but is detected by ctDNA NGS and responds to osimertinib': Not looking backEuropean Journal of CancerVol. 174
- PreviewWe thank Bennett et al. for their correspondence, in which they suggest that our case report [1] may cause undue alarm in non-small cell lung cancer (NSCLC) patients who have been genotyped by polymerase chain reaction (PCR)-based assays alone. Our intention is not to cause unwarranted concern but to stress to clinicians the limitations of PCR-based genotyping. Indeed, when PCR-based assays do identify an actionable genetic alteration, their benefit is proven. However, the issue is when such assays are reported as “negative” and the inability to differentiate false negatives from true negatives.
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