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Updated: Aug 14, 2025
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Pan-cancer molecular analysis of EGFR large fragment deletion in the Asian population
Jun Pu1, Huannan Guo2, Ruoying Yu3
1Department of Neurosurgery, Second Hospital of Kunming Medical University, Kunming, China.
Background:
Large fragment deletion (LFD) of EGFR was associated with carcinogenesis in many types of cancers. However, the molecular features of EGFR-LFD have not been studied in the Asian cancer population.
Method:
Here we retrospectively analyzed the targeted sequencing data from a large cancer database.
Results:
EGFR-LFD was detected at a frequency of 0.03% with EGFRvIII being the most frequently observed LFD. TERTp variants were identified in 60% of the cases. TP53 alterations (33%) were mutually exclusive with TERTp variants and coexisted with EGFR-LFD in lung cancer and colorectal cancer. EGFR amplification (67%) and chromosome 10p deletion (53%) were the most focal-level and arm-level CNV in this cohort. EGFR exon2-17 skipping was found in the tumor tissue of one patient after progressing on osimertinib.
Conclusion:
Our study provided valuable insights into the distribution and molecular characteristics of EGFR-LFD, hoping to shed light on the treatment management for EGFR-LFD carriers.
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