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.
Highlights
In the target therapy era, every single molecular pathology laboratory must take note of the newly available therapeutic strategies to provide a useful clinical report for correct clinical management
The quality test finished with the redaction of a report containing the recommendation to consider the efficacy of therapy with tyrosine kinase inhibitors (TKI)
The detection of some uncommon Epidermal growth factor receptor (EGFR) mutations should entail the mutation characterization, especially for the rare exon 20 insertions, of which are not classifiable as “resistant.” this experience allows reflecting on the quality program design, mandatory actions for the laboratory, and routine activity in the oncologic multidisciplinary team
Summary
In the target therapy era, every single molecular pathology laboratory must take note of the newly available therapeutic strategies to provide a useful clinical report for correct clinical management. This concept is important in lung staging. The laboratory should solve the single critical technical aspects, but this is not a unique challenge This quality round highlighted points like the term choosing for clinical reports and the sequential steps of the setting’s procedure. 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 laboratory performed a validation sequencing of EGFR exon 20 with the help of the Sanger method
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