2024 World Conference on Lung Cancer (WCLC) - ePosters-EP.06F.05 External Quality Assessment Results of Third-party NGS Laboratories in China for the Detection of Rare Mutations in Lung Cancer

EP.06F.05 External Quality Assessment Results of Third-party NGS Laboratories in China for the Detection of Rare Mutations in Lung Cancer

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The document reports on an external quality assessment conducted to evaluate the performance of third-party next-generation sequencing (NGS) laboratories in China concerning the detection of rare mutations in lung cancer. Rare mutations are defined as those with a less than 5% incidence, and their reliable detection is critical due to advancements in targeted drug therapies.<br /><br />Ten standards derived from cell lines, including mutations with approved drugs or those in late development stages like EGFR, MET, HER2, RET, and BRAF variants, were used. Standards were prepared to mimic tissue samples at a 5% mutation frequency and plasma samples at a 1% mutation frequency. Third-party laboratories with NGS capabilities participated by signing informed consent and were required to test these standards. Their results were scored based on the accurate calling and interpretation of mutations.<br /><br />Overall, about 70% of the laboratories passed the assessment, accurately identifying mutations in all mimic samples. However, the study highlighted challenges, as errors were more frequent in detecting amplification and fusion variants, especially in plasma samples. Additionally, only 50% of the labs scored perfectly in interpreting these variants, indicating a need for improved interpretation databases.<br /><br />Participant labs showed the highest error rates in detecting and interpreting MET amplification. Conversely, EGFR and HER2 mutations were identified with high accuracy. The findings underscore the necessity for regular participation in such quality assessments to enhance diagnostic precision, suggesting that improving databases for variant interpretation could further reduce errors.<br /><br />The study involved multiple prestigious institutions across China, emphasizing the collaborative effort to enhance NGS diagnostic capabilities in identifying rare lung cancer mutations.

Asset Subtitle

Qianlan Yao

Meta Tag

Speaker Qianlan Yao

Topic Pathology and Biomarkers

Keywords

quality assessment

next-generation sequencing

lung cancer

rare mutations

targeted drug therapies

EGFR

MET amplification

HER2

diagnostic precision

China