CC BY 4.0 · Glob Med Genet
DOI: 10.1055/s-0041-1732481
Original Article

Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response

Alessandro Pancrazzi
1  Department of Laboratory Medicine, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy
,
Agostino Ognibene
1  Department of Laboratory Medicine, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy
,
Alice Moncada
1  Department of Laboratory Medicine, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy
,
Valerio Torre
2  Department of Oncology, Pathological Anatomy Laboratory, San Donato Hospital, Arezzo, Italy
› Author Affiliations

Abstract

Background The quality programs can be considered to be a valuable tool for global and individual growth. Each result, obtained by a single laboratory, contributes to define the standardization of the response. In the case of the uncommon epidermal growth factor receptor (EGFR) mutations, the molecular result is sometimes difficult to interpret in terms of biological significance and therapy choosing. The standardization effort in the diagnostic lung setting also consists of active quality program participation.

Materials and Methods The quality control analysis, which is defined as a clinical case, was performed by the extraction of DNA from FFPE sections and by RT-PCR on the EGFR (exons 19, 20, 21), BRAF, and KRAS genes. The laboratory performed a validation sequencing of EGFR exon 20 with the help of the Sanger method.

Results The laboratory reported positivity for EGFR exon 20 insertions and negative results for BRAF and KRAS. The quality test finished with the redaction of a report containing the recommendation to consider the efficacy of therapy with tyrosine kinase inhibitors (TKI). This specific interpretation has determined poor performance judgment by the quality provider, which explained why most of these mutations are TKI-resistant.

Conclusions This experience provides an opportunity to reflect on the critical aspects of this diagnostic setting. The detection of some uncommon EGFR mutations should entail the mutation characterization, especially for the rare exon 20 insertions, of which are not classifiable as “resistant.” Moreover, this experience allows reflecting on the quality program design, mandatory actions for the laboratory, and routine activity in the oncologic multidisciplinary team.



Publication History

Received: 24 May 2021

Accepted: 15 June 2021

Publication Date:
22 July 2021 (online)

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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